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Congenital Heart Disease in the Adult

Chapter 280 | Part 6: Disorders of the Cardiovascular System · Part 6 – Cardiovascular Disorders · Chapter 280

Key Clinical Points

  1. Approximately 1.4 million adults with congenital heart disease (CHD) reside in the US; >10% of European CHD patients will be over 60 years old by 2030.
  2. Lifelong follow-up with Adult Congenital Heart Disease (ACHD) specialists is required to monitor anatomic, hemodynamic, and physiologic sequelae.
  3. The mWHO classification system (I–IV) is the standard for stratifying pregnancy risk in patients with CHD.
  4. ASD closure is indicated for patients with right heart dilation and symptoms attributable to the shunt; less favorable if defects are large, have inadequate tissue rims, or involve anomalous pulmonary veins.
  5. Ebstein anomaly features tricuspid valve displacement, 'sail sign' of the anterior leaflet, and potential Wolff-Parkinson-White patterns on ECG.
  6. PDA presents with a distinct murmur heard best just below the left clavicle, extending from systole past the second heart sound into diastole.
  7. VSD closure is generally excellent for small defects without ventricular dilation or pulmonary hypertension; large VSDs typically require surgical intervention before adulthood.
  8. TOF reintervention often involves pulmonary valve replacement (PVR) to address pulmonary regurgitation and right ventricular dilation.
  9. Pregnancy in CHD patients requires preconception counseling and avoidance of ACE inhibitors, ARBs, DOACs, and endothelin receptor blockers.
  10. Transition of care from pediatric to adult programs is a critical gap often influenced by social determinants of health.

DEFINITION & OVERVIEW

• Definition:

Congenital heart disease (CHD) in the adult refers to structural heart defects present at birth that persist into adulthood.

• Complexity of Multi-valve Disease: ◦ Limited evidence exists for surgical/transcatheter intervention in patients with multiple or mixed valve disease. ◦ Decision logic: Based on lesion severity, ventricular remodeling, functional capacity, and PA pressures. ◦ Risk factor: Concomitant aortic and mitral valve replacement surgery is associated with significantly higher perioperative mortality than single-valve replacement. ◦ Strategy: Double valve replacement is typically reserved for severe (unrepairable) disease at both locations or a combination of severe disease at one site and moderate disease at the other to avoid reoperation risks.

• Surgical & Interventional Considerations: ◦ Prosthesis in aortic position restricts surgical exposure of adjacent structures. ◦ Tricuspid valve repair: Now common for moderate or severe secondary (functional) TR, particularly if tricuspid annulus >40 mm; adds little complexity but may risk heart block requiring a permanent pacemaker. ◦ TAVI: Can be performed for mixed AS and AR when anatomical findings (annulus size, coronary height, calcium distribution) are favorable. ◦ PMBC: Presence of moderate or severe MR in patients with rheumatic MS is a contraindication to percutaneous mitral balloon commissurotomy (PMBC).

• mWHO Classification System: ◦ Used to stratify pregnancy risk from I (no increased risk) to IV (extremely high risk of maternal mortality). ◦ mWHO I: No detectable increased risk of maternal mortality; no/mild increased risk in morbidity. ◦ mWHO II: Small increased risk of maternal mortality or moderate increase in morbidity. Includes: unoperated ASD, repaired TOF, most arrhythmias (supraventricular), Turner syndrome without aortic dilation. ◦ mWHO III: Intermediate increased risk of maternal mortality or moderate to severe increase in morbidity. Includes: Moderate LV impairment (EF 30–45%), Pulmonary arterial hypertension, Severe asymptomatic aortic stenosis. ◦ mWHO IV: Significantly increased risk of maternal mortality or severe morbidity. Includes: Severe systemic ventricular dysfunction (EF <30% or NYHA class III–IV), Severe symptomatic aortic stenosis, Fontan with any complication.

EPIDEMIOLOGY

• Prevalence: ◦ USA: At least 1.4 million adults with CHD. ◦ Europe: >10% of adults with CHD will be over 60 years old by 2030.

• Clinical Context: ◦ Majority diagnosed in childhood, but a substantial percentage are first recognized as adults. ◦ Requirement: Lifelong follow-up coordinated with ACHD specialists for surveillance of anatomic, hemodynamic, and physiologic sequelae.

ETIOLOGY & PATHOPHYSIOLOGY

• Terminology: ◦ Inconsistent terminology is a challenge; several systems exist (e.g., Maude Abbott, Van Praagh).

• Segmental Approach: ◦ Heart divided into segments: Atria, Ventricles, and Great Arteries. ◦ Key distinction: Alignment (what drains into what) vs. Connection (how adjacent segments are physically linked).

• Genetic & Chromosomal Associations: ◦ Conotruncal defects → 22q11 deletion (DiGeorge syndrome). - Clinical clue: Right aortic arch or aberrant subclavian artery. - Risk: Untreated psychiatric disorders and cognitive disabilities. ◦ Noonan syndrome → PTPN11 mutations; often presents with dysplastic pulmonary valve, facial and lymphatic abnormalities. ◦ Williams syndrome (7q11.23 deletion) → supravalvar aortic stenosis, diffuse arteriopathy, 'cocktail-like' personality, and hypercalcemia.

CLINICAL FEATURES

• General Findings: ◦ Right heart dilation: Common in CHD; caused by valvular anomalies (Ebstein, pulmonary regurgitation), myocardial issues (ARVC, Uhl's), or shunt lesions (ASD, PAPVR). ◦ Physical Exam: Wide, fixed splitting of the second heart sound (due to prolonged RV ejection and increased PA capacitance). ◦ ECG: Often shows an incomplete right bundle branch block. ◦ Symptoms: Exercise intolerance, arrhythmia, dyspnea with exertion.

• Atrial Septal Defect (ASD): ◦ Mechanism: Left-to-right shunt; leads to right heart dilation. ◦ Types: - Secundum - Primum - Sinus venosus ◦ Management: Closure indicated if there is right heart dilation and symptoms attributable to the shunt. Less favorable for large defects, inadequate tissue rims, or anomalous pulmonary veins.

• Ebstein Anomaly: ◦ Pathology: Tricuspid valve displacement, 'atrialized' RV, and tricuspid regurgitation (TR). ◦ Clinical signs: - "Sail sign" (distinctive feature of the anterior leaflet). - Potential for Wolff-Parkinson-White pattern on ECG.

• Ventricular Septal Defect (VSD): ◦ Distinction: Small defects without ventricular dilation or pulmonary hypertension have excellent outcomes; large VSDs usually require surgical closure before adulthood.

• Patent Ductus Arteriosus (PDA): ◦ Anatomy: Connects aortic isthmus to branch pulmonary arteries. ◦ Clinical finding: Murmur heard best just below the left clavicle; extends from systole past S2 into diastole.

• Tetralogy of Fallot (TOF): ◦ Components: RVOT obstruction, VSD, RV hypertrophy, and overriding aorta. ◦ Management: - Primary repair in infancy is standard. - Common reinterventions: Pulmonary valve replacement (PVR) for pulmonary regurgitation; tricuspid valve repair; catheter ablation for clinically significant arrhythmias.

DIFFERENTIAL DIAGNOSIS

• Right Heart Dilation Etiologies (Table 280-2): ◦ Tricuspid valve disease: Ebstein anomaly, tricuspid valve dysplasia. ◦ Myocardial abnormalities: Arrhythmogenic RV cardiomyopathy, Uhl's anomaly. ◦ Shunt lesions: Partial anomalous pulmonary venous return (PAPVR), Primum ASD, Secundum ASD, Sinus venosus defect, Gerbode defect (LV-RA shunt), Coronary sinus septal defect, Coronary artery fistula to the RA/CS, Postoperative residual shunts.

DIAGNOSTIC APPROACH

• Clinical Assessment: 1. Initial evaluation → Identify primary lesion and associated hemodynamic impacts. 2. Imaging: Echocardiography to assess valve morphology, chamber size, and shunt volume. 3. Specialized Review: Referral to ACHD specialists for complex cases or before invasive procedures.

MANAGEMENT & TREATMENT

  1. Surgical/Interventional Management: • Tricuspid Valve Repair: Indicated for moderate/severe secondary TR, especially if tricuspid annulus >40 mm. • ASD Closure: Recommended for patients with right heart dilation and symptoms attributable to the shunt. • TAVI: Option for severe AS in patients with favorable anatomy (annulus size, coronary height, calcium distribution). • TOF Reintervention:
  2. Pulmonary valve replacement (PVR) for pulmonary regurgitation.
  3. Closure of residual VSDs.
  4. Tricuspid valve repair.

  5. Catheter ablation for clinically significant arrhythmias.

  6. Medical Management & Pregnancy: • Preconception Counseling: Required for all women with CHD. • Medication Restrictions: Avoid ACE inhibitors, ARBs, DOACs, and endothelin receptor blockers during pregnancy. • Monitoring: Regular evaluation for atrial arrhythmias, heart failure progression, and pulmonary hypertension.

COMPLICATIONS & PROGNOSIS

• Tetralogy of Fallot (TOF) Sequelae (Table 3): ◦ Right Ventricle: Dilation, dysfunction, and outflow tract obstruction. ◦ Pulmonary Circulation: Pulmonary regurgitation, branch pulmonary artery stenosis. ◦ Other: Tricuspid regurgitation, residual VSD, aortic root dilation, atrial/ventricular arrhythmias, sudden cardiac death.

• D-Loop TGA Surgery Sequelae (Table 4): ◦ Atrial Switch: Risk of systemic venous baffle issues, RV dysfunction, tricuspid regurgitation, and baffle leaks; LVOT obstruction (PS). ◦ Arterial Switch: Risk of neo-aortic root dilation, coronary artery stenosis, and LV dysfunction.

SPECIAL CONSIDERATIONS

• Pregnancy: ◦ Use mWHO classification to determine risk level. ◦ High-risk conditions (mWHO III/IV) include pulmonary arterial hypertension and severe systolic dysfunction.

• Transition of Care: ◦ Critical gap between pediatric and adult programs often due to social determinants of health. ◦ Standardized care via ACHD board certification and accreditation standards.

KEY PEARLS & CLINICAL TRAPS

• ASD vs. PFO: Secundum ASD is a true defect; PFO is not associated with right heart dilation. • Ebstein's "Sail Sign": Distinctive appearance of the anterior tricuspid leaflet. • PDA Murmur: Unique timing (systole through S2 into diastole) and location (below left clavicle). • TGA Surgery: Atrial switch results in a systemic RV; Arterial switch allows for a native-like physiology but carries risks of neo-aortic dilation.

Reference Tables

TABLE 280-1 Modified World Health Organization (mWHO) Classification of Heart Disease in Pregnancy Diagnosis (if…

Harrison's 22e, p.2069

mWHO I mWHO II mWHO II–III mWHO III mWHO IV
Diagnosis (if
otherwise well and
uncomplicated)		 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		 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
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		 Intermediate increased
risk of maternal mortality
or moderate to severe
increase in morbidity		 Significantly increased risk of
maternal mortality or severe
morbidity

TABLE 280-2 Congenital Etiologies of Right Heart Dilation Congenital tricuspid valve disease

Harrison's 22e, p.2070

  • 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

TABLE 280-3 Potential Sequelae of Repaired Tetralogy of Fallot Right atrial dilation Right ventricular dilation Right…

Harrison's 22e, p.2074

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
RV LV

TABLE 280-4 Long-Term Sequelae of D-Loop TGA Surgery

Harrison's 22e, p.2075

ATRIAL SWITCH ARTERIAL SWITCH RASTELLI PROCEDURE
Systemic venous baffle Arterial anastomosis
stenosis		 Subaortic stenosis
Branch PA stenosis
RV (systemic) dysfunction Neo-aortic root dilation Pulmonary regurgitation
Neo-aortic regurgitation
Baffle leaks Coronary artery stenosis
LV dysfunction