# 42 - 280 Congenital Heart Disease in the Adult

### 280 Congenital Heart Disease in the Adult

There is a paucity of evidence to inform practice guidelines for 
surgical and/or transcatheter valve intervention in patients with 
multiple or mixed valve disease. When there is a clear, dominant 
lesion, as for example in a patient with severe AS and mild AR, 
indications for intervention are straightforward and follow those 
recommended for patients with AS (Chap. 272). In other patients, 
however, there is less clarity, and decisions regarding intervention 
should be based on several considerations, including those related 
to lesion severity, ventricular remodeling, functional capacity, and 
PA pressures. In this regard, it is important to realize that patients 
with multiple and/or mixed valve disease may develop limiting 
symptoms or signs of physiologic impairment even with moderate 
valve lesions.
Concomitant aortic and mitral valve replacement surgery is 
associated with a significantly higher perioperative mortality risk 
than replacement of either valve alone; therefore, operation should 
be carefully considered. Double valve replacement surgery is usu­
ally performed for treatment of severe (unrepairable) valve disease 
at both locations and for the combination of severe disease at one 
location with moderate disease at the other to avoid the hazards of 
reoperation in the intermediate to late term for progressive disease 
of the unoperated valve. In addition, the presence of a prosthesis 
in the aortic position significantly restricts surgical exposure of the 
native mitral valve. The need for double valve replacement may also 
impact the decision regarding the type of prosthesis (i.e., mechani­
cal vs tissue). In selected patients, TAVI for severe AS followed by 
edge-to-edge clip repair for severe MR can be accomplished during 
the same procedure.
Tricuspid valve repair for moderate or severe secondary (func­
tional) TR at the time of left-sided valve surgery is now common­
place, particularly if there is dilation of the tricuspid annulus 
(>40 mm). The addition of tricuspid valve repair, consisting usu­
ally of insertion of an annuloplasty ring, adds little time or com­
plexity to the procedure and is well tolerated, but may be associated 
with an excess risk of heart block and the need for a permanent 
pacemaker. Reoperation for repair (or replacement) of progres­
sive TR years after initial surgery for left-sided valve disease, on 
the other hand, is associated with a relatively high perioperative 
mortality risk. Mitral valve repair or replacement for moderate 
or severe secondary MR at time of AVR for AS can usually be 
undertaken with acceptable risk for perioperative death or major 
complication.
The presence of moderate or severe MR in patients with rheu­
matic MS is a contraindication to percutaneous mitral balloon 
commissurotomy (PMBC). TAVI can be performed for mixed AS 
and AR when the anatomic findings related to annulus size, coro­
nary height, and the distribution of calcium are favorable. Trans­
catheter management of both severe AS and severe primary or 
secondary MR (with deployment of an edge-to-edge clip) has been 
undertaken with increasing frequency in appropriately selected 
patients with prohibitive or high surgical risk. Further advances in 
transcatheter treatments for multiple and mixed valve disease are 
anticipated.
■
■FURTHER READING
Alaour B et al: Combined significant aortic stenosis and mitral regur­
gitation: Challenges in timing and type of intervention. Can J Cardiol 
40:235, 2024.
Egbe AC et al: Outcomes in moderate mixed aortic valve disease: Is it 
time for a paradigm shift? J Am Coll Cardiol 67:2321, 2016.
Gammie JS et al: Concomitant tricuspid repair in patients with 
degenerative mitral regurgitation. N Engl J Med 286:327, 

2022.
Otto CM et al: 2020 AHA/ACC guidelines for management of 
patients with valvular heart disease. A report of the American Heart 
Association Joint Commission on Clinical Practice Guidelines. 
Circulation 143:e72, 2021.

Anne Marie Valente, Michael J. Landzberg

Congenital Heart Disease 

in the Adult
CHAPTER 280
■
■PREVALENCE
The number of adults with congenital heart disease (CHD) living 
in the United States is estimated to be at least 1.4 million. It is now 
projected that >10% of adults living with CHD in Europe will be over 
60 years old by 2030. The majority of adults with CHD were diagnosed 
in childhood, although a substantial percentage may have CHD first 
recognized as adults. Lifelong follow-up in coordination with, or 
directly by, clinicians with expertise in adult congenital heart disease 
(ACHD) is recommended. In this chapter, we will review the cur­
rent field of ACHD, with an introduction to CHD nomenclature and 
cardiac development. This is followed by a summary of the more com­
mon CHD lesions that may be diagnosed in adulthood. Lastly, some of 
the common repaired CHD lesions that are encountered in adults are 
discussed. Throughout the chapter, to aid in the understanding of con­
genital cardiac anatomy and physiology, we include figures displaying 
the passage of blood flow between blood vessels and cardiac chambers 
in various disorders (Fig. 280-1).
Congenital Heart Disease in the Adult 
■
■THE CHANGING LANDSCAPE OF ADULT CHD
A Relatively New Subspecialty in Cardiovascular Disease 

Over the past two decades, the field of caring for adults with CHD has 
blossomed, and several nationwide initiatives have been initiated to 
standardize care. The American College of Cardiology and American 
Heart Association developed guidelines for the care of adults with CHD, 
first published in 2008 and revised in 2018, which emphasize the need 
for collaboration among primary care practitioners, cardiologists, and 
ACHD subspecialty cardiologists. The body of medical knowledge and 
competencies attendant with ACHD combined with skill acquisition in 
coordination of complex care over a patient’s medical lifetime led in 2015 
to ACHD board certification examinations by the American Board of 
Medical Subspecialties, as well as the establishment of requirements for 
advanced fellowship training in ACHD care by the Accreditation Coun­
cil for Graduate Medical Education. In temporal association, the Adult 
Congenital Heart Association (ACHA) developed a process for ACHD 
care program accreditation based on standardization of infrastructural 
components felt requisite to achieve quality outcomes for ACHD.
■
■SPECIAL CONSIDERATIONS FOR THE ACHD 
PATIENT
Due to the need for lifelong care, it is essential that pediatric cardiology 
programs partner with ACHD programs to provide successful transi­
tion of patients. However, gaps in care are common during transition, 
much of which may be due to disparities in social determinants of 
health, such as race, ethnicity, socioeconomic status, access to insur­
ance, and residence in geographically remote locations. Additionally, 
adults with CHD may not recognize subtle changes in their exercise 
capacity, some of which are associated with worse survival; by the time 
symptoms are recognized, irreversible physiologic changes may have 
occurred. ACHD patients are, therefore, advised to undergo regular 
evaluations for surveillance of anatomic, hemodynamic, and electro­
physiologic sequelae that may be present. In addition, specific situa­
tions may arise in which it is prudent to review care in consultation 
with an ACHD specialist, several of which are outlined below.
Noncardiac Surgery 
Nearly all adults with CHD can be classi­
fied with stage A (harboring risk) or greater degrees of heart failure. 
As such, adults with CHD may demonstrate limited hemodynamic 
reserve to altered myocardial perfusion or loading conditions and may 
have subclinical organ dysfunction that is not recognized by standard 
laboratory assessment. Comprehensive, multispecialty assessment and 
care strategy review are recommended in advance of invasive or

Normal Heart
Pulmonary
artery
PART 6
Disorders of the Cardiovascular System
Aorta
Right
pulmonary
veins 
Left
pulmonary
veins 
Left
atrium
Superior
vena cava
Right
atrium
Mitral
valve
Pulmonary
valve
Left
ventricle
Right
ventricle
Inferior
vena cava
Aortic valve
Tricuspid valve
FIGURE 280-1  Normal heart. Understanding of congenital cardiac anatomy and physiology is facilitated by use of box 
diagrams, displaying passage of blood flow between blood vessels and cardiac chambers. Labeling (e.g., structure 
names, arrows to denote direction of flow, coloring to represent oxygen saturation, connections or obstructions, 
chamber or vascular pressures, oxygen saturations) can aid in representation. Ao, aorta; IVC, inferior vena cava; LA, left 
atrium; LV, left ventricle; PA, pulmonary artery; PV, pulmonary veins; RA, right atrium; RV, right ventricle; SVC, superior 
vena cava.
operative procedures for adults with CHD. Figure 280-2 illustrates the 
multiorgan considerations that should be considered in adults with 
CHD during perioperative resuscitation and convalescence. Anesthetic 
management requires knowledge of anatomy, physiologic consequence 
of underlying defects, myocardial and vascular performance, presence 
and nature of previous palliative procedures and residual shunts, altera­
tion of venous or arterial pathways within the circulation, and status of 
noncardiovascular organ physiology.
Pregnancy 
Women with CHD should receive counseling regard­
ing both maternal and fetal risks prior to conceiving a pregnancy and 
should be cared for in institutions with experience in treating CHD 
during pregnancy. Preconception evaluation includes detailed medical 
history, with particular attention to the women’s functional capacity, 
which is closely linked to maternal and fetal outcomes. Table 280-1 
lists the World Health Organization classification of risk during preg­
nancy in women with heart disease; women at risk should be strongly 
counseled about the significant risks of morbidity and mortality during 
pregnancy and the postpartum period. Normal physiologic hemody­
namic changes of pregnancy are significant, occur over a relatively 
Hepatic
Neurologic
Congestive hepatopathy
Neurocognitive
dysfunction
Hepatic fibrosis
Stroke
Renal
Mood disorders
(anxiety, depression)
Chronic kidney disease
Malignancy
Endocrine
Long-term exposure
to ionizing radiation
Hepatocellular carcinoma
Diabetes
Hypercholesterolaemia
Obesity
Immune/Infection
Calcium metabolism
and bone density
SBE
Abnormal immune function
Thyroid disorders
FIGURE 280-2  Noncardiac considerations in adults with congenital heart disease (CHD). SBE, subacute bacterial endocarditis. (Modified from J Buber et al: Common 
congenital heart problems in acute and intensive care. Eur Heart J Acute Cardiovasc Care 12:267, 2023.)

condensed period of time, and may 
be compounded in adults with CHD. 
Silversides and colleagues have devel­
oped a weighted-risk score for pregnant 
women with heart disease, based on a 
large registry known as CARPREG  2. 
The highest-weighted risk factors 
(weight of 3 points) include a prior his­
tory of cardiac events or arrhythmias, 
decreased functional status (New York 
Heart Association class ≥III), and pres­
ence of a mechanical heart valve. Risk 
factors that account for 2 points include 
ventricular dysfunction, high-risk leftsided valve disease/left ventricular 
outflow tract obstruction, pulmonary 
hypertension, coronary artery disease, 
and high-risk aortopathy. One point is 
assigned for late pregnancy assessment 
or no prior cardiac intervention. In 
this cohort, 16% of women experienced 
an adverse cardiac outcome, primarily 
heart failure and arrhythmia related. 
The predicted risks for cardiac events 
stratified according to point score were 
as follows: ≤1 point, 5%; 2 points, 10%; 
3 points, 15%; 4 points, 22%; and >4 
points, 41%.
PV
SVC
IVC
RA
LA
Mitral
valve
Tricuspid
valve
RV
LV
Pulmonary
valve 
Aortic
valve
PA
Ao
Prepregnancy medications should 
be reviewed to ensure their safety in 
pregnancy. Alternatives to angiotensinconverting enzyme (ACE) inhibitors, angiotensin receptor blockers, 
direct oral anticoagulants, and endothelin receptor blockers should be 
considered, as these agents are teratogenic and contraindicated during 
pregnancy and should be discontinued. Women requiring anticoagula­
tion must be advised of the challenges of managing anticoagulation 
during pregnancy, and individualized strategies should be developed. 
A fetal echocardiogram between 18 and 22 weeks of gestation is advised 
for patients with CHD. Additionally, both men and women with CHD 
should be counseled regarding the risk of CHD in their offspring.
■
■CONGENITAL TERMINOLOGY, DEVELOPMENT, 
AND GENETICS
Congenital Nomenclature 
One of the challenges in caring for 
adults with CHD is the inconsistent terminology used to describe the 
congenital heart lesions. Several classification systems have been pro­
posed, from the initial descriptions by Maude Abbott, Maurice Lev, and 
Jesse Edwards, to the extensive characterizations by Stella and Richard 
Van Praagh and Robert Anderson. In this chapter, we follow a seg­
mental approach. The heart is composed of several segments that are 
Genetic
Gastrointestinal
Malnutrition
Specific genetic syndromes
associated with CHD
Malabsorption
Haematologic
Airway
Anaemia
Thrombosis
Congenital anomalies
Small airways disease
Coagulopathy
Bleeding diathesis
Pulmonary
Frailty
Restrictive lung disease
Sarcopenia
Obstructive sleep apnoea
Deconditioning
Pulmonary hypertension

TABLE 280-1  Modified World Health Organization (mWHO) Classification of Heart Disease in Pregnancy
 
mWHO I
mWHO II
mWHO II–III
mWHO III
mWHO IV
Small or mild
Pulmonary stenosis
Patent ductus arteriosus
Mitral valve prolapse
Successfully repaired 
simple lesions (atrial or 
ventricular septal defect, 
patent ductus arteriosus, 
anomalous pulmonary 
venous drainage)
Atrial or ventricular 
ectopic beats, isolated
Unoperated atrial or 
ventricular septal defect
Repaired tetralogy of 
Fallot
Most arrythmias
(supraventricular 
arrhythmias)
Turner syndrome without 
aortic dilatation
Diagnosis (if 
otherwise well and 
uncomplicated)
Risk
No detectable increased 
risk of maternal mortality 
and no/mild increased 
risk in morbidity
Small increased risk of 
maternal mortality or 
moderate increase in 
morbidity
Abbreviations: ASI, aortic size index; EF, ejection fraction; HTAD, heritable thoracic aortic disease.
analyzed separately before formulating a comprehensive diagnosis. The 
principal segments are the atria, the ventricles, and the great arteries, 
which are joined together by the atrioventricular canal and the conus 
(infundibulum). In the normal heart, the right ventricle (RV) is rightsided and organized inflow-to-outflow from right to left, while the left 
ventricle (LV) is left-sided and organized inflow-to-outflow from left 
to right. It is important to determine the segmental alignments, that 
is, what drains into what. For example, in the normal heart, the right 
atrium (RA) is aligned with the RV and the LV with the aorta. Finally, 
the segmental connections, the way in which adjacent segments are 
physically linked to each other, are described. For example, in the 
normal heart, the pulmonary artery (PA) is connected to the RV by a 
complete muscular conus (infundibulum), while the aorta is connected 
to the LV by aortic-mitral fibrous continuity (without a complete 
conus). Alignment and connection are different concepts, and both are 
important, especially in complex defects.
Cardiac Development 
The heart starts to form in the third week 
of gestation and is nearly fully formed by 8 weeks’ gestation. Mesoder­
mal precardiac cells migrate to form the cardiac crescents (primary 
heart fields) in anterior lateral plate mesoderm, which are then brought 
together to form a primary linear heart tube by ventral closure of the 
embryo. Cells of the second heart field continue to proliferate outside 
the heart and are added to the heart tube over the course of embryo­
genesis, contributing to the atria, the RV, and outflow tract. Addition­
ally, cardiac neural crest cells migrate into the developing heart in the 
5th–6th weeks and are essential for septation of the outflow, formation 
of the semilunar valves, and patterning of the aortic arches. Once 
formed, the heart tube grows and elongates by addition of cells from 
the second heart field. The ends of the heart tube are relatively fixed 
by the pericardial sac so that as it elongates it must loop (bend), and 
in the vast majority of hearts, the loop falls to the right (D-loop). Fur­
ther elongation pushes the mid-portion of the tube (future ventricles) 

Mild left ventricular 
impairment (EF >45%)
Hypertrophic 
cardiomyopathy
Native or tissue valve 
disease not considered 
WHO I or IV (mild mitral 
stenosis, moderate aortic 
stenosis)
Marfan or other HTAD 
syndrome without aortic 
dilatation
Aorta <45 mm in bicuspid 
aortic valve pathology
Repaired coarctation
Atrioventricular septal 
defect
Moderate left ventricular 
impairment (EF 30–45%)
Previous peripartum 
cardiomyopathy without 
any residual left ventricular 
impairment
Mechanical valve
Systemic right ventricle with 
good or mildly decreased 
ventricular function
Fontan circulation
Fontan circulation with good 
clinical course and without 
associated comorbidities
Unrepaired cyanotic heart 
disease
Other complex heart disease
Moderate mitral stenosis
Severe asymptomatic aortic 
stenosis
Moderate aortic dilatation 

(40–45 mm in Marfan syndrome 
or other HTAD; 45–50 mm in 
bicuspid aortic valve, Turner 
syndrome ASI 20–25 mm/m2, 
tetralogy of Fallot <50 mm)
Ventricular tachycardia
Pulmonary arterial 
hypertension
Severe systemic 
ventricular dysfunction 
(EF <30% or NYHA class 
III–IV)
Previous peripartum 
cardiomyopathy with any 
residual left ventricular 
impairment
Severe mitral stenosis
Severe symptomatic 
aortic stenosis
Systemic right ventricle 
with moderate or severely 
decreased ventricular 
function
Severe aortic dilatation 
(>45 mm in Marfan 
syndrome or other HTAD, 
>50 mm in bicuspid aortic 
valve, Turner syndrome 
ASI >25 mm/m2, tetralogy 
of Fallot >50 mm)
Vascular Ehlers-Danlos
Severe (re)coarctation
Fontan with any 
complication
CHAPTER 280
Congenital Heart Disease in the Adult 
Intermediate increased 
risk of maternal mortality 
or moderate to severe 
increase in morbidity
Significantly increased risk of 
maternal mortality or severe 
morbidity
Extremely high risk of 
maternal mortality or 
severe morbidity
inferior or caudal to the inflow, resulting in the normal relationship 
between the atria and ventricles. Further growth pushes the outflow 
medially and is associated with outflow rotation, both processes essen­
tial for normal alignment of the outflow. Finally, the proximal part of 
the outflow is incorporated in the RV, shortening the outflow in asso­
ciation with further rotation. While this remodeling is occurring, the 
outflow is undergoing septation under the influence of cardiac neural 
crest cells. Septation proceeds from distal to proximal, culminating 
in formation and muscularization of the infundibular, or muscular, 
outflow septum, which inserts onto the superior endocardial cushion 
at the rightward rim of the outflow foramen, walling the aorta into the 
LV via the outflow foramen and the PA directly into the RV.
Genetic Considerations 
CHD is the most commonly occur­
ring birth defect; etiologic contributors are increasingly recognized, 
although often speculated to be multifactorial. Children born with 
trisomy 21 have a 50% chance of having CHD, most commonly defects 
in the atrioventricular canal. Conotruncal defects are associated with 
several chromosomal abnormalities, most notably a deletion at chro­
mosome 22q11 (DiGeorge syndrome). Echocardiographic clues to this 
association in patients with a conotruncal defect include an associated 
right aortic arch or aberrant subclavian artery. Many adults currently 
living with conotruncal defects may not have undergone testing for 
DiGeorge syndrome. This condition is important to recognize because 
a variety of psychiatric disorders and disabilities in cognitive function 
may be present and go untreated. Patients with Noonan syndrome 
commonly have a dysplastic pulmonary valve and have facial and 
lymphatic abnormalities. Several defects in specific genes have been 
associated with Noonan syndrome, most notably PTPN11. Adults with 
Williams syndrome (7q11.23 deletion) commonly have supravalvar 
aortic stenosis and diffuse arteriopathy, with a “cocktail-like” personal­
ity and hypercalcemia. There is a growing importance of genome-wide 
analyses in subjects with CHD.

TABLE 280-2  Congenital Etiologies of Right Heart Dilation
Congenital tricuspid valve disease
  Tricuspid valve dysplasia with regurgitation
  Ebstein anomaly
Congenital pulmonary valve regurgitation
Pulmonary arterial hypertension
Myocardial abnormalities
  Arrhythmogenic RV cardiomyopathy
  Uhl’s anomaly
Shunt lesions
  Partial anomalous pulmonary venous return
  Primum ASD
  Secundum ASD
  Sinus venosus defect
  Coronary sinus septal defect
  Gerbode defect (LV-RA shunt)
  Coronary artery fistula to the RA, CS
  Postoperative residual shunts
PART 6
Disorders of the Cardiovascular System
Abbreviations: ASD, atrial septal defect; CS, coronary sinum; LV, left ventricle; 
RA, right atrium; RV, right ventricle.
■
■SPECIFIC CHD LESIONS
Dilated Right Heart 
There are many congenital etiologies for 
right heart dilation (Table 280-2). These include congenital valvular 
anomalies (such as Ebstein anomaly or pulmonary regurgitation), 
intrinsic RV myocardial anomalies (arrhythmogenic RV dysplasia, 
Uhl’s anomaly), or shunt lesions occurring proximal to the tricuspid 
valve (atrial septal defects or partial anomalous pulmonary veins). 
Cardiac imaging is critical in determining the etiology of right heart 
dilation, and knowledge of the anatomy and physiology of various 
shunt lesions is essential.
Atrial Septal Defect 
One of the most common etiologies of 
right heart dilation is presence of an atrial septal defect (ASD; 
Fig. 280-3A). Intracardiac communications allow blood transmission 
between chambers or spaces based on relative resistance, propulsion, 
and flow patterns. Patients with large ASDs often present in child­
hood; however, many ASDs are not discovered until adult life. The 
physiology of an ASD is predominantly that of a “left-to-right” shunt 
Atrial Septal Defect
SVC
IVC
x
x+y
PA
Ao
Right
PVs
SVC
x
Left
PVs
x
x+y
ASD
y
LA
x
RA
x+y
x
LV
x+y
RV
IVC
A
FIGURE 280-3  A. Atrial septal defect. In the presence of an atrial septal defect, the difference in compliance between the (RA + RV) as compared to the (LA + LV), combined 
with the size of the defect itself, allows for a “shunt” of flow (“y”) of “red” (oxygenated) blood from the left side of the heart to the right side (deoxygenated). Systemic 
venous return of pure deoxygenated blood (“x”) is increased by the oxygenated shunted blood (“y”) to increase volume of blood (“x + y”) in the RA, RV, and total blood flow 
to the lungs. If the volume or the sequelae of the shunted blood are sufficient, RA and RV can dilate (hashed lines), and arrhythmias or shortness of breath (and occasionally 
pulmonary hypertension) can ensue. Ao, aorta; ASD, atrial septal defect; IVC, inferior vena cava; LA, left atrium; LV, left ventricle; PA, pulmonary artery; PV, pulmonary veins; 
RA, right atrium; RV, right ventricle; SVC, superior vena cava. B. Diagrammatic representation of the location of various atrial septal defects. ASD 1, primum atrial septal 
defect; ASD 2, secundum atrial septal defect. (Part B used with permission from Emily Flynn McIntosh, illustrator.)

(flow of pulmonary venous, or oxygenated, blood toward systemic 
venous, or deoxygenated, chambers or vessels). The degree of left-toright shunting determines the amount of right heart volume loading 
and is dictated by the size of the defect as well as the diastolic prop­
erties of the heart. As patients age, several factors, such as diabetes 
mellitus, systemic hypertension, and atherosclerosis, may contribute 
to decreased compliance of the left-sided cardiac chambers and 
contribute to increased left-to-right shunting and symptomatology. 
The classic physical examination finding is a wide, fixed splitting of 
the second heart sound, which is due to prolonged RV ejection and 
increased PA capacitance, which, in turn, delay pulmonary valve 
closure. The surface electrocardiogram (ECG) commonly displays 
an incomplete right bundle branch block. Symptoms, when they 
occur, most commonly include exercise intolerance, arrhythmia, 
and dyspnea with exertion. It is not uncommon for adults to have 
incidentally noted asymptomatic ASD during evaluation of other 
comorbid issues. Right heart dilation, without additional etiology for 
such, in the setting of unrepaired ASD is considered a risk for pro­
gression toward symptomatic right heart failure, atrial arrhythmias, 
and potential development of pulmonary arterial hypertension (if 
such is not already present). Therefore, a patient with an ASD and 
right heart dilation, particularly with symptoms attributable to such, 
should be offered ASD closure. Pulmonary vascular disease leading 
to pulmonary hypertension develops in up to 10% of patients with 
unrepaired ASD, and Eisenmenger syndrome (ES) is a rare complica­
tion (see below). Management of patients with concomitant ASD and 
pulmonary hypertension should be coordinated with both ACHD 
and pulmonary hypertension experts.
Figure 280-3B illustrates the locations of various ASDs. The most 
common type of an ASD is a secundum ASD, which is a defect, or true 
deficiency in the atrial septum, in the region of the fossa ovalis. This 
should be differentiated from a patent foramen ovale (PFO), which is 
persistence of patency of the flap valve of the fossa ovalis (not associ­
ated with right-sided cardiac dilation) and persists in up to 25% of 
adults. Secundum ASDs can often be closed with occluder devices 
placed percutaneously. However, certain anatomic determinants make 
percutaneous closure less favorable, including large defects, inade­
quate tissue rims surrounding the defect, and concomitance of anom­
alous draining pulmonary veins. A primum ASD is a deficiency of the 
atrioventricular (AV) canal portion of the atrial septum; primum ASD 
is always associated with abnormal development of the AV valves, 
PV
ASD
y
RA
LA
x+y
x
Sinus
venosus
defect
ASD 1°
RV
LV
x+y
x
x+y
x
PA
Ao
ASD 2°
B

most commonly resulting in a cleft in the mitral 
valve. A coronary sinus defect is rare and involves 
an opening between the coronary sinus and the 
left atrium. A sinus venosus defect is not a defect 
in the atrial septum but, rather, a defect between 
either the right superior vena caval–atrial junc­
tion and the right upper pulmonary vein(s) or, 
less commonly, the inferior vena caval–atrial 
junction and the right lower pulmonary veins. 
Surgical closure is required for primum ASDs, 
sinus venosus defects, and coronary sinus septal 
defects.
APV
APV
Right
PVs
Partial Anomalous Pulmonary Venous 
Return 
Partial anomalous pulmonary venous 
return (PAPVR) is occasionally discovered in 
adults with right heart dilation or incidentally on 
cross-sectional imaging (Fig. 280-4). There are 
several possible anomalous connections, with the 
most common being a left upper pulmonary vein 
to an ascending vertical vein into the innominate 
vein or the right upper pulmonary vein draining 
to the superior vena cava. In the latter case, care­
ful attention should be paid to ensure that there 
is not an associated sinus venosus defect. Con­
comitant pulmonary hypertension can occur but 
is uncommon. Symptomatology may be absent, 
and a decision to repair isolated PAPVR should 
include variance in anatomy, lung ventilation 
and perfusion, hemodynamic response to shunt, 
symptoms, and surgical experience.
FIGURE 280-4  Partial anomalous pulmonary venous return. In the presence of an anomalously draining 
pulmonary vein (typically to a systemic vein such as the left innominate vein, SVC, or rarely IVC), an 
obligate “shunt” of flow (“y”) of “red” (oxygenated) blood from the affected pulmonary vein to the right 
heart (deoxygenated) ensues. Systemic venous return of pure deoxygenated blood (“x”) is increased by 
the oxygenated shunted blood (“y”) to increase volume of blood (“x + y”) in the SVC, RA, RV, and total blood 
flow to the lungs. If the volume or the sequelae of the shunted blood are sufficient, RA and RV can dilate 
(hashed lines), or shortness of breath can ensue. Ao, aorta; APV, anomalous pulmonary vein; IVC, inferior 
vena cava; LA, left atrium; LV, left ventricle; PA, pulmonary arteries; PV, pulmonary veins; RA, right atrium; 
RV, right ventricle; SVC, superior vena cava.
Ebstein Anomaly 
Ebstein anomaly (Fig. 280-5) is the result of 
embryologic failure of delamination, or “peeling away,” of the tricuspid 
valve leaflets from the ventricular myocardium, resulting in adher­
ence of the valve leaflets to the underlying myocardium. This results 
in a wide variety of abnormalities, including apical and posterior 
Ebstein Malformation
SVC
IVC
PA
Ao
Right
PVs 
x+y
x+z
x+z
x
SVC
Left
PVs
x
LA
PFO
x+z
z
RA
x+y
x+z
y
LV
RV
x+y
IVC
FIGURE 280-5  Ebstein malformation. In the presence of Ebstein anomaly, the tricuspid valve leaflets can 
be redundant, fenestrated, and sail-like (typically seen in the anterior leaflet*) or adherent to the underlying 
myocardium with apical displacement of the nonadherent components (typically the septal and posterior 
leaflets). Location and degree of leaflet coaptation are variable and account for varying degrees of tricuspid 
regurgitation, shift of the functional tricuspid valve anterior from the anatomic annulus into the right 
ventricle, “atrialization” of the right ventricle, and most commonly angulation of the tricuspid valve into the 
RV outflow tract. RA and RV dilation (hashed lines) can occur due to the effects of combined volume from 
systemic venous return (“x”) and tricuspid regurgitant flow (“y”). PFO is frequent; worsening compliance and 
elevation of pressure in the RA as compared to the LA can lead to increasing “right-to-left” (deoxygenated 
to oxygenated) shunt and cyanosis. RV myocardial function may be abnormal. Ao, aorta; IVC, inferior vena 
cava; LA, left atrium; LV, left ventricle; PA, pulmonary arteries; PFO, patent foramen ovale; PV, pulmonary 
veins; RA, right atrium; RV, right ventricle; SVC, superior vena cava; *, anterior tricuspid valve leaflet.

Partial Anomalous
Pulmonary Venous Return
PV
SVC
CHAPTER 280
y
x
IVC
x
x+y
y
RA
LA
PA
Ao
x+y
x
x
x+y
Left
PVs
SVC
Congenital Heart Disease in the Adult 
LA
RV
LV
x
x+y
x
RA
x+y
x
x+y
x
x+y
LV
PA
Ao
RV
IVC
displacement of the dilated tricuspid valve annulus, dilation of the 
“atrialized” portion of the RV, and fenestrations, redundancy, and 
tethering typically of the anterior leaflet of the tricuspid valve. The 
malformed tricuspid valve is usually regurgitant but may occasionally 
be stenotic. The clinical presentation of Ebstein anomaly in the adult 
depends on several factors, including the extent 
of tricuspid valve leaflet distortion, degree of 
tricuspid regurgitation (TR), right atrial pressure, 
and presence of an atrial level shunt. The physical 
examination of a patient with Ebstein anomaly 
may vary depending on the severity of disease. In 
more severe cases, the first heart sound may be 
split and the second component of the first heart 
sound may have a distinctive snapping quality 
(known as the sail sign, due to the redundancy of 
the anterior tricuspid valve leaflet). Patients with 
significant TR may have prominent “v” waves of 
the jugular venous pulsations; however, this find­
ing is often absent due to abnormal right atrial 
compliance. The ECG is often abnormal, with 
right atrial and ventricular enlargement. Up to 
20% of patients have evidence of ventricular pre­
excitation (Wolff-Parkinson-White pattern). Sur­
gical treatment includes a tricuspid valve repair 
or replacement, closure of any atrial level defects, 
and arrhythmia ablative procedures.
PV
PFO
x
x
z
RA
LA
y
*
RV
LV
x+z
x+y
x+z
x
PA
Ao
Shunt Lesions Causing Left Heart 
Dilation 
Intracardiac shunts or intravascu­
lar passages that occur below the level of the 
tricuspid valve result in left heart dilation. The 
two major types of congenital shunts that result 
in left heart dilation are a ventricular septal 
defect (VSD; Fig. 280-6A) and patent ductus 
arteriosus (PDA; Fig. 280-7).
Ventricular Septal Defects 
VSDs are the 
most common congenital anomaly recognized at

Ventricular Septal Defect
SVC
IVC
x
x+y
PART 6
Disorders of the Cardiovascular System
PA
Ao
Right
PVs
SVC
x
x
x+y
Left
PVs
LA
x+y
RA
x
y
x+y
LV
RV
x
IVC
A
FIGURE 280-6  A. Ventricular septal defect. In the presence of a ventricular septal defect, the difference in pressure and outflow resistance in systole (and the difference in 
compliance in diastole) between the RV and LV, combined with the size of the defect itself, allow for a “shunt” of flow (“y”) of “red” (oxygenated) blood from the left side of 
the heart to the right side (deoxygenated). Systemic venous return of pure deoxygenated blood (“x”) is increased by the oxygenated shunted blood (“y”) to increase volume 
of blood (“x + y”) through the outflow of the RV into the lungs, and in the left atrium and left ventricle. If the volume or the sequelae of the shunted blood are sufficient, LA and 
LV can dilate (hashed lines), and arrhythmias or shortness of breath (and occasionally pulmonary hypertension) can ensue. Ao, aorta; IVC, inferior vena cava; LA, left atrium; 
LV, left ventricle; PA, pulmonary arteries; PV, pulmonary veins; RA, right atrium; RV, right ventricle; SVC, superior vena cava; VSD, ventricular septal defect. B. Diagrammatic 
representation of the location of various ventricular septal defects. AV, atrioventricular. (Part B used with permission from Emily Flynn McIntosh, illustrator.)
birth; however, they account for only ~10% of CHD in the adult, due 
to the high rate of spontaneous closure of small VSDs during the early 
years of life. Large VSDs usually cause symptoms of heart failure and 
poor somatic growth and are most often surgically closed before adult­
hood. Several classification systems for VSDs exist. Figure 280-6B 
illustrates various locations of VSDs; the most common location is in 
the membranous septum (also referred to as perimembranous or outlet 
defects). Muscular defects that persist into adult life are often pressure 
and flow restricted, resulting in no significant hemodynamic conse­
quence. AV canal defects, also referred to as inlet defects, are located 
in the crux of the heart and are associated with abnormalities of the 
AV valve leaflets. Subpulmonary defects, also known as conal septal 
defects, are commonly associated with prolapse of the right coronary 
Patent Ductus Arteriosus
y
Ao
PA
Right
PVs
x
SVC
x
LA
x+y
RA
x
x+y
x
LV
RV
IVC
FIGURE 280-7  Patent ductus arteriosus. In the presence of a patent ductus arteriosus, the difference in pressure and resistance in both systole and diastole between the 
pulmonary arteries and the aorta, combined with the size of the ductus itself, allow for a “shunt” of flow (“y”) of “red” (oxygenated) blood from the aorta to the pulmonary 
arteries (deoxygenated). Systemic venous return of pure deoxygenated blood (“x”) is increased by the oxygenated shunted blood (“y”) to increase volume of blood (“x + y”) 
in the lungs, the left atrium, the left ventricle, and out the aortic valve. If the volume or the sequelae of the shunted blood are sufficient, LA and LV can dilate (hashed lines), 
and arrhythmias or shortness of breath (and occasionally pulmonary hypertension) can ensue. Ao, aorta; IVC, inferior vena cava; LA, left atrium; LV, left ventricle; PA, 
pulmonary arteries; PDA, patent ductus arteriosus; PV, pulmonary veins; RA, right atrium; RV, right ventricle; SVC, superior vena cava.

PV
RA
LA
x
x+y
Subpulmonary
RV
LV
Membranous
x+y
y
x
VSD
x
x+y
AV canal
type
PA
Ao
Muscular
B
cusp and aortic insufficiency. The outcome for adults with small VSDs 
without evidence of ventricular dilation or pulmonary hypertension is 
generally excellent.
Patent Ductus Arteriosus 
A PDA courses between the aortic 
isthmus and the origin of one of the branch PAs. Small PDAs are often 
silent to auscultation and do not cause hemodynamic changes. The 
classic murmur is heard best just below the left clavicle and typically 
extends from systole past the second heart sound into diastole, reflect­
ing flow turbulence and gradient between the aorta and the PAs (result­
ing in left-to-right shunting). Large PDAs will lead to left heart dilation 
and may lead to chronically elevated pulmonary vascular resistance, 
including the potential for ES.
PV
SVC
PDA
IVC
x
x+y
RA
LA
x
x+y
Left
PVs
RV
LV
x
x+y
x
x+y
y
PDA
x
x+y
PA
Ao

■
■MODERATE AND COMPLEX CHD
Tetralogy of Fallot 
Tetralogy of Fallot (TOF) is the most common 
form of cyanotic CHD, occurring in 0.5 per 1000 live births. It involves 
anterior deviation of the conal septum, resulting in RV outflow tract 
(RVOT) obstruction, a VSD, RV hypertrophy, and an overriding aorta 
(Fig. 280-8A, B). There is a large spectrum of severity of disease in 
TOF, from patients who have only mild pulmonary stenosis to those 
with complete pulmonary atresia (TOF/PA). Current surgical strategies 
involve primary repair in infancy (Fig. 280-8C); however, many adults 
Tetralogy of Fallot (unrepaired)
PV
SVC
IVC
x
x-y
RA
LA
x
x-y
Right
PVs
 
SVC
RV
LV
x
x-y
x
y
RVH
#
*
VSD
RA
x
x-y
x
x
PA
Ao
IVC
A
Tetralogy of Fallot (repaired)
PA
Ao
Right
PVs
x
SVC
x
x
x
x+y
RA
y
x
x+y
LV
RV
IVC
C
FIGURE 280-8  A. Tetralogy of Fallot involves anterior and superior malalignment of a bar of tissue (conal septum) (see *in part B, which presents a cut-away view through 
the anterior surface of the RV, into the RV outflow), partially obstructing the right ventricular outflow (under the pulmonary valve, i.e., “subpulmonary stenosis”; labeled as 
1), and leaving a gap in the interventricular septum (VSD). The pulmonary valve annulus is typically hypoplastic. Outflow obstruction prevents regression of right ventricular 
hypertrophy (#), which was present in utero. The difference in pressure and outflow resistance in systole (and the difference in compliance in diastole) between the 
obstructed RV and the LV allows for a “shunt” of flow (“y”) of “blue” (deoxygenated) blood from the right side of the heart to the left side (oxygenated). Systemic venous 
return of pure deoxygenated blood (“x”) is decreased by the shunted blood (“y”), leading to a total decrease in the volume of blood (“x – y”) passing beyond into the lungs. 
The deoxygenated shunted blood (“y”) mixes with fully oxygenated blood in the LV, contributing to systemic arterial cyanosis. C. Tetralogy of Fallot—repaired. After modern 
repair of tetralogy of Fallot, VSD has been patched closed, and outflow tract obstruction has been surgically removed, frequently at the expense of a patch enlarging 
the pulmonary valve annulus at the expense of sacrificing the integrity of the pulmonary valve (causing pulmonary regurgitation). The pulmonary regurgitant volume 
(“y”) is added to systemic venous return (“x”), contributing to RV chamber enlargement (hashed lines) and may be associated with tricuspid annular dilation and valve 
regurgitation, resulting in RA enlargement. Ao, aorta; IVC, inferior vena cava; LA, left atrium; LV, left ventricle; PA, pulmonary arteries; PV, pulmonary veins; RA, right atrium; 
RV, right ventricle; RVH, right ventricular hypertrophy; SVC, superior vena cava; VSD, ventricular septal defect.

may have first undergone palliative procedures (Blalock-Taussig, Potts, 
Waterston shunts) prior to a complete repair. The goal of surgical repair 
is to alleviate the pulmonary stenosis and close the VSD. Up to 10% 
of patients with TOF have an anomalous coronary artery, most com­
monly, an anomalous left anterior descending coronary artery from the 
right coronary cusp. Patients with an anomalous coronary as well as 
those with TOF/PA may require an RV-to-PA conduit.

CHAPTER 280
Adults with repaired TOF often have hemodynamic sequelae that 
may require reintervention in adulthood (Table 280-3). Pulmonary 
Congenital Heart Disease in the Adult 
Conal Anatomy
PA
Ao
x-y
Left
PVs
LA
*
x-y
VSD
*

x-y

LV
y
x-y
RV
x
#
B
PV
SVC
IVC
x
x
RA
LA
x+y
x
Left
PVs
RV
LV
x+y
x
LA
x
VSD
patch
VSD
patch
x+y
x
x
PA
Ao

TABLE 280-3  Potential Sequelae of Repaired Tetralogy of Fallot
Right atrial dilation
Right ventricular dilation
Right ventricular dysfunction
Right ventricular outflow tract obstruction
Pulmonary regurgitation
Branch pulmonary artery stenosis
Tricuspid regurgitation
Residual ventricular septal defect
Left ventricular dysfunction
Aortic root dilation
Atrial arrhythmias
Ventricular arrhythmias
Sudden cardiac death
PART 6
Disorders of the Cardiovascular System
regurgitation is common following TOF repair and is usually associ­
ated with RV dilation. Accurate quantification of RV size, function, 
and mass is particularly important in adults after repair of TOF, as RV 
dilation, dysfunction, and hypertrophy are associated with adverse out­
comes in these patients. Patients may also have residual RVOT obstruc­
tion, which may occur beneath the pulmonary valve, at the valve level, 
above the valve, or in the branch PAs. Cardiac magnetic resonance 
imaging is routinely used in the surveillance of these patients. Left ven­
tricular dysfunction is present in at least 20% of adults with repaired 
TOF, particularly those who were repaired later in life, had prior pal­
liative shunts, or have concomitant RV dysfunction.
As patients age with repaired TOF, both atrial and ventricular 
arrhythmias occur with increasing frequency. A QRS duration on a 
D-loop Transposition
PA
Ao
Right
PVs
SVC
LA
RA
RV
IVC
A
FIGURE 280-9  A. Transposition of the great arteries. When the great arteries are transposed, the aorta arises from the RV, and the pulmonary artery arises from the LV, 
leaving deoxygenated blood circulating from systemic veins to systemic arteries in separated fashion from oxygenated blood, which circulates from pulmonary veins to 
pulmonary arteries. Without interchamber or intravascular communications, this circulation is incompatible with life. Presence of an atrial septal defect (ASD), depicted 
here, ventricular septal defect (VSD), or patent ductus arteriosus (PDA) allows for some interchamber or intravascular mixing and, at best, partial relief of cyanosis and 
sustenance of life, at the expense of increased pulmonary blood flow. B. Atrial switch. Atrial level switch procedures (Mustard and Senning) were the first standardized 
surgeries to alter the natural course of complex congenital heart disease, utilizing intracardiac rerouting via a “baffle” to redirect blood flow. The atrial switch simulates 
inverted trousers, with each “pants leg” (*) attaching to either the SVC or the IVC, transporting deoxygenated blood through the interior of the trousers to the “waist of 
the trousers” and directing blood through the mitral valve to the LV and out the PA. Surgical removal of the atrial septum allows pulmonary venous return to traverse from 
posterior left atrium through the space between the pants legs of the baffle, through the tricuspid valve to the RV (serving as the “systemic ventricle,” i.e., that pumps to 
the systemic arterial circulation), through the aorta. Non-infrequent sequelae include sinus node dysfunction, atrial arrhythmias, systolic dysfunction of the RV, tricuspid 
regurgitation (from RV to LA), leaks in the baffle material allowing shunting of blood, and obstruction of the systemic or pulmonary venous baffles. C. Arterial switch. The 
arterial switch operation allowed both anatomic and physiologic correction for D-loop transposition of the great arteries. Successful surgical switching of the PA and the 
Ao above the level of the native roots (hashed lines) necessitated ability to transfer coronary artery origins contained within a button of tissue (*) back to the neo-aorta 
(now supported by the LV). Deoxygenated blood flow from SVC and IVC passes from RA to RV to PA, and oxygenated blood passes from PV to LA to LV to Ao. Uncommon 
sequelae include obstruction at any of the surgical sites (supravalvar PA or Ao stenosis, coronary orifice obstruction) or more distal obstructions due to tension placed on 
the PA, Ao, or coronary arteries. Ao, aorta; IVC, inferior vena cava; LA, left atrium; LV, left ventricle; PA, pulmonary arteries; PV, pulmonary veins; RA, right atrium; RV, right 
ventricle; SVC, superior vena cava.

resting ECG of 180 ms or more has been associated with increased risk 
of ventricular tachycardia and sudden death in this patient popula­
tion. In one prospective follow-up study of 144 adults with repaired 
TOF, there was a 72% survival at 40 years, but only a 25% cumula­
tive event-free survival. These events include need for reintervention 
(most commonly pulmonary valve replacement [PVR]), symptomatic 
arrhythmias, and heart failure.
The most common reintervention in a repaired TOF patient is a PVR. 
However, optimal timing of PVR in asymptomatic patients with repaired 
TOF remains unclear. Traditionally, PVR has been accomplished with a 
surgical procedure; however, percutaneous implantation of pulmonary 
valves is becoming increasingly utilized in clinical practice.
Patients with repaired TOF may also undergo interventions includ­
ing closure of residual VSDs, dilation and/or stenting of the RVOT or 
branch PAs, and tricuspid valve repair. Patients with clinically signifi­
cant arrhythmias may benefit from catheter ablation.
Transposition of the Great Arteries 
Transposition of the great 
arteries (TGA) is defined by the great arteries arising from the opposite 
side of the ventricular septum than normal; as such, the aorta arises 
from the RV and the PA from the LV. The more common form of TGA, 
known as D-loop TGA, involves AV concordance and ventriculararterial discordance, resulting in a physiology that allows two circuits 
to be in parallel rather than in series (Fig. 280-9A) and intense cyano­
sis shortly after birth. This physiology is not compatible with long-term 
survival without surgical intervention. Patients with TGA may be born 
with additional congenital defects (most commonly a VSD).
The surgical repairs for D-loop TGA have evolved over time. In the 
late 1950s through the 1970s, the atrial switch procedure (Mustard, 
Senning procedures) was performed (Fig. 280-9B). These atrial switch 
PV
SVC
ASD
IVC
RA
LA
Left
PVs
RV
LV
Ao
PA
LV

Atrial Switch
PA
Ao
Right
PVs
SVC
RA
RV
IVC
B
Arterial Switch
neo
Ao
Right
PVs
neo
PA
LA
SVC
oo
oo
*
*
RA
RV
IVC
C
FIGURE 280-9  (Continued)
procedures relieved the cyanosis but left the patient with a systemic RV. 
Despite moderate-term survival over decades, there are multiple longterm sequelae that may present following the atrial switch procedure. 
The most worrisome complication is that of systemic RV dysfunc­
tion. The prevalence of RV dysfunction in this population is not well 
defined. Limited study has failed to reveal medical therapies effective 
for systemic RV dysfunction.
A subset of patients with D-loop TGA, VSD, and PS may have 
undergone a Rastelli procedure. This intervention involves placing an 
RV-to-PA conduit and routing the LV to the aorta through the VSD, 
which results in relief of cyanosis and the benefit of a systemic LV.
In the 1980s, the arterial switch operation (ASO; Fig. 280-9C) 
became the surgical procedure of choice for D-loop TGA. This pro­
cedure involves transecting the great arteries above the sinuses and 
placing the PAs anteriorly to come into alignment with the RV, result­
ing in draping of the branch PAs over the ascending aorta. A coronary 
artery translocation is performed. The ASO has resulted in substantial 
long-term survival.
The potential long-term sequelae of the various surgical procedures 
for D-loop TGA are listed in Table 280-4.

PV
LA
CHAPTER 280
SVC
IVC
Left
PVs
RV
LV
LA
Congenital Heart Disease in the Adult 
Ao
PA
LV
PV
SVC
IVC
RA
LA
Left
PVs
RV
LV
neo
PA
neo
Ao
LV
The less common form of TGA, known as L-loop TGA (physiologi­
cally corrected or “congenitally corrected” TGA; Fig. 280-10), may not 
require surgical intervention but is presented here in relation to other 
forms of TGA. L-loop TGA involves both AV discordance (RA allow­
ing passage of deoxygenated systemic venous return to the LV, and 
TABLE 280-4  Long-Term Sequelae of D-Loop TGA Surgery
ATRIAL SWITCH
ARTERIAL SWITCH
RASTELLI PROCEDURE
Systemic venous baffle
Arterial anastomosis 
stenosis
Subaortic stenosis
Pulmonary venous baffle
Branch PA stenosis
RV-PA conduit obstruction
RV (systemic) dysfunction Neo-aortic root dilation
Pulmonary regurgitation
Tricuspid regurgitation
Neo-aortic regurgitation
Ventricular dysfunction
Baffle leaks
Coronary artery stenosis
 
LVOT obstruction (PS)
LV dysfunction
 
Abbreviations: LV, left ventricle; LVOT, left ventricular outflow tract; PA, pulmonary 
artery; PS, pulmonary stenosis; RV, right ventricle; TGA, transposition of the great 
arteries.

Congenitally (L-loop transposition)
Corrected TGA
PART 6
Disorders of the Cardiovascular System
PA
Ao
Right
PVs
SVC
LA
RA
LV
IVC
FIGURE 280-10  Congenitally corrected transposition of the great arteries. Physiologically corrected transposition of the great arteries (also known as congenitally 
corrected transposition of the great arteries) is characterized by atrioventricular discordance and ventriculoarterial discordance. Systemic venous blood passes from the 
right atrium (RA) through the mitral valve into the morphologic left ventricle (LV) to the pulmonary artery (PA). Oxygenated blood then returns to the lungs to the left atrium 
(LA) through the tricuspid valve into the morphologic right ventricle (RV) and then out the aorta (Ao). IVC, inferior vena cava; PV, pulmonary veins; SVC, superior vena cava.
conversely, the left atrium conducting oxygenated pulmonary venous 
blood to the RV) as well as ventriculoarterial discordance (connections 
of LV to PA, RV to aorta). This results in normal arterial oxygen satu­
ration, yet an RV associated with the aorta. Patients with L-loop TGA 
commonly have associated congenital anomalies, including dextrocar­
dia, ASDs, a dysplastic tricuspid valve, and pulmonary stenosis. Con­
duction disturbances are common, and complete heart block occurs in 
up to 30% of patients. Those patients without associated defects may 
not present until later in life, most commonly with heart failure, TR, or 
newly recognized conduction disease.
Coarctation of the Aorta 
Adults with coarctation of the aorta 
(Fig. 280-11) typically have a shelf-like obstruction at the level of 
the descending aorta that passes just posterior to the junction of the 
main and left PA; obstruction less commonly involves the transverse 
aortic arch. On physical examination, the lower extremity blood pres­
sure and pulses are lower than (and delayed in timing, in contrast to) 
the upper extremity values, unless significant aortic collaterals have 
developed. A continuous murmur over the scapula may be present due 
to the collateral blood flow. Significant coarctation increases afterload 
to all proximal structures in the path of oxygenated blood, from LV 
and coronary arteries to ascending and transverse aorta, to cerebral 
and arm vessels and proximal descending aorta. Bicuspid aortic valve 
(typically with right-left commissural fusion) is a common association. 
In women with short stature, webbed neck, lymphedema, and primary 
amenorrhea, a concomitant diagnosis of Turner syndrome should be 
considered, the presence of which indicates greater degree of, and 
risks from, sequelae from seemingly similar anatomy and physiology. 
Patients who have undergone surgical repair in general have a good 
prognosis; however, they remain at risk for systemic hypertension, 
premature atherosclerosis, LV failure, and aortic aneurysm, dissection, 
and recurrent coarctation.
Single Ventricle 
The term single ventricle heart disease is impre­
cise but useful in some settings, as it refers to congenital heart condi­
tions in which one ventricle or its valves preclude surgical creation 
of a biventricular circulation. Common congenital diagnoses in this 
category include tricuspid atresia, double inlet LV, and hypoplastic 
left heart syndrome. Most patients with single ventricle physiology 
undergo a series of surgeries culminating in a Fontan procedure 
(Fig. 280-12A, B). Since its initial use for tricuspid valve atresia in 

PV
SVC
IVC
RA
LA
Left
PVs
LV
RV
PA
Ao
RV
1971, multiple modifications of this procedure have occurred, with 
common features of near complete separation of the pulmonary and 
systemic circulations. The Fontan procedure utilizes the single ventri­
cle to pump pulmonary venous (oxygenated) blood through the aorta 
to the body and allows for “passive” flow of systemic venous return 
of deoxygenated blood through surgically created connections to the 
lungs. Patients who have undergone a Fontan procedure are at risk 
for multiple comorbidities in adulthood, including atrial arrhythmias, 
heart failure, renal and hepatic dysfunction, and both venous and arte­
rial thrombosis and embolism.
Coarctation of the Aorta:
Sequelae/Associations

PA
*

LA
Ao

RA

LV

RV
FIGURE 280-11  Aortic coarctation (*). Bicuspid aortic valve (1) is most common 
concomitant lesion. Sequelae from aortic coarctation (unrepaired or repaired) 
include systemic arterial hypertension, ascending (2) or descending (3) aortic 
enlargement or aneurysm formation, left ventricular (LV) hypertrophy (4), LV diastolic 
and systolic heart failure, accelerated coronary (5) or cerebral (6) atherosclerosis, 
cerebral aneurysm formation, and recurrence of coarctation after repair. Ao, aorta; 
PA, pulmonary arteries.

Fontan
PA
Ao
RA
LA
SVC
RA
*
LV
RV
IVC
A
Atriopulmonary
Fontan
Classic Fontan
Extracardiac
Fontan
Lateral tunnel
Fontan
B
FIGURE 280-12  A. Fontan surgery creates a unique circulation in which deoxygenated blood is directed to the PAs from the SVC and IVC in a fashion that bypasses any 
pumping chamber. The SVC and IVC are connected (*) via either an internal “tunnel” or an extracardiac conduit that guides flow to the PA. Pulmonary venous (oxygenated) 
return courses from PV to LA to LV to aorta. In contrast to physiology in normal adults (where pressure is generated by an RV to propel blood flow from a lower pressure RA 
to a higher pressure LA), in Fontan circulation, by definition, due to the absence of a pumping chamber to the PA, RA pressure is greater than LA pressure, permitting flow 
through the lungs. Ao, aorta; IVC, inferior vena cava; LA, left atrium; LV, left ventricle; PA, pulmonary arteries; PV, pulmonary veins; SVC, superior vena cava; *, Fontan baffle. 
B. Diagrammatic representation of the location of various types of Fontan operations. (Part B used with permission from Emily Flynn McIntosh, illustrator.)

PV
SVC
Extracardiac conduit
CHAPTER 280
IVC
LA
*
*
LV
Congenital Heart Disease in the Adult 
PA
Ao