Congenital heart disease (CHD) is a term used to describe a malformation of the heart or great vessels present since birth. In adults with congenital heart disease (ACHD), one must consider not only the original CHD anatomy, but also the type of surgical repair(s), as well as understand the natural history of both the underlying anatomy and surgical palliation.

The overall profile of CHD in the United States has shifted strikingly in the last decade whereby there has been an increase in those living with CHD, and now greater proportion of adults versus children (Figure 17-1). This observation foreshadows the future growth of the ACHD population in the United States. In fact, by current estimates, the number of adults living with CHD is substantial. Canadian data reported that 40,000 ACHD patients comprised 66% of CHD care nationally in Canada in 2010 (Figure 17-2).² If these data are extrapolated and applied to the U.S. population, the number of potential ACHD patients seeking care in 2010 is on the order of 1.5 million. Not only have overall numbers of ACHD patients increased, but there has also been a marked jump in adults with severe forms of CHD. In adults the overall prevalence of severe CHD increased 85% versus 22% for children.³ For the first time ever, data were released in late 2014 showing that patients who received their care at a specialized ACHD center had an independent reduction in mortality.⁴ This shift in mortality benefit occurred after the release of national consensus guidelines, indicating that both expert opinion and evidence-based medicine in ACHD had an impact on overall survival. With increasing numbers of adults surviving CHD, there is a substantial need for better understanding of CHD in the adult population as they continue to age.⁵ Ultimately, this calls for better understanding and recognition of CHD, surgical repair(s), and late sequelae related to underlying anatomy and palliation. Here we review the most common ACHD lesions that present to adult cardiology clinics, along with exam findings, special testing, and considerations for expected management in the setting of underlying anatomy and prior surgical repair. Several practice management guidelines are outlined as part of this review.^6-11

ATRIAL SEPTAL DEFECT

Overview

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  Secundum atrial septal defect (ASD): Defect of the fossa ovalis due to enlarged ostium secundum or inadequate septal tissue. It is the most common type of ASD (75%), and occurs more frequently in women (Figure 17-3).

  
  
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  Primum ASD: Defect in the lower atrial septum due to lack of septum primum and endocardial cushion fusion. Primum defects account for 15% of overall ASDs and are commonly associated with trisomy 21, atrioventricular septal defects (AVSDs), and cleft mitral valve (Figure 17-3).

  
  
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  Sinus venosus ASD: Defect at the level of the superior vena cava (SVC) or inferior vena cava (IVC) as they enter the right atrium at the intra-atrial septum. Typically occurs as a result of unroofing of a pulmonary vein as it passes behind the right atrium en route to the left atrium. This defect accounts for 10% of ASDs and is highly associated with partial anomalous venous return (PAPVR) (Figure 17-3).

  
  
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  Unroofed coronary sinus: The least common type of ASD (1%); associated with persistent left superior vena cava (L-SVC) (Figure 17-3).

Associated Defects and Physiology

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  Associated defects: Valvular pulmonic stenosis (PS), mitral valve prolapse

  
  
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  Physiology:

  
  
  
  
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    Typically there is a left-to-right shunt at the level of the ASD due to the increased compliance of the right ventricle as compared to the left ventricle.

    
    
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    Late findings include right heart (atrium/RA and ventricle/RV) enlargement due to overcirculation at the level of the shunt. The volume load and resultant chamber enlargement can precipitate atrial arrhythmias, which increase in frequency with age.

    
    
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    About 10% of patients with an ASD develop pulmonary hypertension (HTN). This has been reported in unrepaired defects and also late after ASD closure.

Clinical Findings, Diagnosis, and Management

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  Clinical presentation: Most patients are asymptomatic; however, symptoms can range from dyspnea on exertion, fatigue, palpitations due to arrhythmias, or in rare cases, hypoxia and cyanosis from Eisenmenger syndrome (ES, see further).

  
  
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  Examination findings: Fixed split S₂, loud P₂ (if pulmonary HTN present), soft systolic murmur may be heard due to increased flow across the PV. Rarely, a large shunt may produce a diastolic rumble.

  
  
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  Electrocardiogram: Incomplete right bundle-branch block (rSR’) (Figure 17-4) and atrioventricular block (AVB). Right axis deviation can be seen in an ASD where right heart chamber enlargement is present; however, in the case of a primum defect left axis deviation is almost always present.

  
  
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  Chest x-ray: Enlarged right heart and increased pulmonary vasculature.

  
  
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  Echocardiogram: Echo “drop-out” at the interatrial septum may be seen in adults with adequate image quality (Figure 17-5). Saline contrast bubble study may be used to confirm the presence of an interatrial shunt when 2-dimensional and color Doppler evaluation are inconclusive. Transesophageal echocardiogram (TEE) is particularly useful for evaluation of sinus venosus and coronary sinus defects.

  
  
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  Advanced imaging: Cardiac computed tomography (CT) and magnetic resonance imaging (MRI) are typically not required for diagnosis unless there are inconclusive echocardiogram results.

  
  
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  Cardiac catheterization: Generally not required for diagnosis, but useful to evaluate pulmonary vascular resistance, pulmonary to systemic flow, and for coronary evaluation in patients considered for closure.

  
  
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  Management:

  
  
  
  
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    Closure indicated: Evidence of RA or RV enlargement (± symptoms) if pulmonary to systemic flow (Qp:Qs) is >1.5, ASD >10 mm on echo, presence of paradoxical embolism, platypnea-othodeoxia, those undergoing other cardiac surgery, and in patients with pulmonary HTN only if pulmonary vascular resistance is <2/3 systemic resistance or who are responsive to test occlusion or pulmonary vasodilators. Catheter-based closure is indicated in secundum defects if size permits. Remainder of ASD types are closed surgically.

    
    
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    Closure contraindicated: Irreversible severe pulmonary arterial HTN with a bidirectional or right-to-left shunt.

    
    
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    Atrial arrhythmias: Rate and rhythm control strategies are reasonable with anticoagulation if the patient meets clinical criteria for high risk of stroke.

VENTRICULAR SEPTAL DEFECT

Overview

Ventricular septal defects (VSDs) are the most common CHD in infants (0.5%-5%) with the majority (80%) closing spontaneously.

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  Type 1 (subpulmonary, infundibular, supracristal, conal, doubly committed juxta-arterial): Accounts for ∼6% of VSDs (33% in Asian populations) and is located near the RV outflow tract. Frequently causes aortic insufficiency (Figures 17-3 and 17-6A).

  
  
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  Type 2 (perimembranous, conoventricular): The most common type of VSD (80%) located in the membranous portion of the LV septum (Figures 17-3 and 17-6B). May be associated with aortic insufficiency. Can frequently be seen with a “septal aneurysm,” which is the result of partial closure of the defect by tricuspid leaflet tissue (Figure 17-6). Can rarely be a cause of a Gerbode defect (connection between RA and LV).

  
  
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  Type 3 (AV canal type, inlet): Accounts for 5% to 8% of VSDs and is commonly associated with trisomy 21. Defect occurs in the lower RV adjacent to the tricuspid valve (Figures 17-3 and 17-6C).

  
  
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  Type 4 (muscular): In infants this type of VSD accounts for 20% of VSDs, but less common in adults. Can occur in the central, apical, or marginal portions of the septum. The usual course is spontaneous closure (Figures 17-3 and 17-6D).

Associated Defects and Physiology

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  Associated defects: Frequently seen with other types of CHD, in particular tetralogy of Fallot (ToF) and transposition of the great arteries.

  
  
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  Physiology:

  
  
  
  
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    In the usual situation blood flows from the higher pressure LV to the RV across the VSD. This can lead to LV volume overload and left heart chamber enlargement. Over time, if uncorrected, a large shunt may reverse such that flow is from RV to LV when pulmonary vascular remodeling and pulmonary HTN develop (a condition called Eisenmenger syndrome [ES]).

    
    
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    Size of VSD and physiology (non-ES):

    
    
    
    
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      Small: <1/3 size of aortic annulus with no LV volume overload or pulmonary HTN (small net left-to-right shunt)

      
      
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      Moderate: 1/3 to 2/3 size of aortic annulus with mild-moderate LV volume overload and no/mild pulmonary HTN (moderate left-to-right shunt; Qp:Qs 1.5-1.9)

      
      
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      Large: 2/3 size of aortic diameter and large left-to-right shunt. Pulmonary HTN is typical and the LV is volume overloaded (Qp:Qs usually >2.0)

Clinical Findings, Diagnosis, and Management

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  Clinical presentation: Varies from asymptomatic murmur to HF.

  
  
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  Examination findings: Harsh loud holosystolic murmur. Murmur can become quieter over time if RV pressure approaches LV pressure.

  
  
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  Electrocardiogram: May show LA and LV enlargement. If right ventricular hypertrophy (RVH) is seen, consider ES.

  
  
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  Chest x-ray: Cardiomegaly will be evident if the defect is moderate or large in size. Increased pulmonary vascular markings.

  
  
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  Echocardiogram: This is the preferred study for diagnosis including evaluation of anatomy but also physiologic shunt (Figure 17-7).

  
  
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  Advanced imaging: May be helpful if there is concern about concomitant CHD.

  
  
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  Catheterization: The most accurate way to assess shunt flow and pulmonary vascular resistance (Figure 17-8).

  
  
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  Management:

  
  
  
  
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    Closure indicated: Evidence of LV volume overload (with Qp:Qs >2) OR history of endocarditis are absolute indications for closure. It is reasonable to consider closure if pulmonary HTN is present and pulmonary pressures are <2/3 systemic pressure and pulmonary vascular resistance is <2/3 systemic vascular resistance (if Qp:Qs is >1.5). It is also reasonable to consider closure if the shunt Qp:Qs is >1.5 and there is diastolic dysfunction present. Catheter-based closures can be considered with type 4 defects where there is significant left heart enlargement and the VSD is remote from the tricuspid valve.

    
    
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    Closure contraindicated: Closure is not indicated if there is severe, irreversible pulmonary HTN.

ATRIOVENTRICULAR SEPTAL DEFECT

Overview

Atrioventricular septal defect (AVSD) is also known as “AV canal defect/AVCD,” “endocardial cushion defect,” or “common atrioventricular canal/CAVC” (Figure 17-9). This defect is the result of fusion abnormalities between the septum primum and endocardial cushions, and presents in 3 broad variations:

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  Complete AVSD: Combination of primum ASD, type 3 VSD, and common atrioventricular (AV) valve.

  
  
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  Incomplete AVSD: Primum ASD, no VSD, and cleft anterior mitral leaflet.

  
  
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  Partial AVSD: Cleft anterior mitral leaflet.

Associated Defects and Physiology

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  Associated defects: About 30% of AVSD occurs in patients with trisomy 21 (although partial AVSD is NOT associated with trisomy 21). Other common associated lesions are ToF, conotruncal anomalies, subaortic stenosis, and heterotaxy syndromes.

  
  
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  Physiology: The unrestricted septal defects allow deoxygenated and oxygenated blood from the right and left sides of the heart to mix. As a result, children present cyanotic. Over time, if unrepaired, unrestricted pulmonary blood flow leads to increase pulmonary vascular resistance and ES. Adults presenting with an unrepaired AVCD are typically in this stage (ES).

Clinical Findings, Diagnosis, and Management

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  Clinical presentation: Children are typically cyanotic, and so it is common to undergo repair in childhood. Adults that present with an unrepaired defect typically have findings consistent with ES (HF, cyanosis, arrhythmia).

  
  
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  Examination findings: In those repaired, there may be a soft systolic murmur of mitral regurgitation. In the unrepaired patient, the exam is more significant, reflecting underlying Eisenmenger physiology (acrocyanosis) (Figure 17-10).

  
  
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  Electrocardiogram: Signs of chamber enlargement. In an unrepaired adult, most typically this is RVH. AV node dysfunction is common late after surgery, and so frequent monitoring for conduction system disease is recommended.

  
  
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  Chest x-ray: Unrepaired patients typically have cardiomegaly.

  
  
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  Echocardiogram: The study of choice to diagnose and evaluate shunt physiology (Figure 17-11).

  
  
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  Advanced imaging: Typically only helpful to evaluate for associated lesions or if echo images are suboptimal.

  
  
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  Catheterization: May be used to evaluate shunt flow and pulmonary artery pressure when considering surgery/reoperation.

  
  
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  Management: Initial repair is completed in infancy. However, reoperation is often required in the adult population and can be considered reasonable if:

  
  
  
  
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    Left-sided AV valve regurgitation or stenosis leads to symptoms, arrhythmias, or there is increase in left heart size or reduction in function.

    
    
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    LV outflow tract obstruction if the mean/peak gradients are >50/70 mm Hg or lower gradients with concomitant mitral regurgitation or aortic insufficiency.

    
    
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    Residual AS or VSD with a significant left-to-right shunt (see ASD and VSD above).

Overview

The patent ductus arteriosis (PDA) is a persistent connection between the proximal descending aorta and the roof of the pulmonary artery.

Associated Defects and Physiology

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  Associated defects: Associated with multiple conditions including ASD, VSD, maternal rubella infection, fetal valproate syndrome, and other chromosomal abnormalities.

  
  
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  Physiology: The patent ductus permits left-to-right shunting of blood from the aorta to the pulmonary bed. If left unrepaired, this may cause LA and LV dilatation and volume overload. Large PDAs with unrestricted flow may result in Eisenmenger physiology (Figure 17-12).

Clinical Findings, Diagnosis, and Management

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  Clinical presentation: Varies with the size of the PDA. May range from asymptomatic to dyspnea, fatigue, or cyanosis (with ES).

  
  
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  Examination findings: Classically, a continuous machinery-type murmur is described below the left clavicle. In large lesions, there may be a widened pulse pressure. Differential cyanosis and clubbing (between hands and feet) (Figure 17-12B) can be seen when the shunt becomes right-to-left and deoxygenated blood is preferentially directed to the lower extremities.

  
  
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  Electrocardiogram: May be normal or with LA or LV enlargement. If pulmonary HTN is present as in ES, then RVH may also be seen.

  
  
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  Chest x-ray: Normal to cardiomegaly.

  
  
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  Echocardiogram: Echo is reasonable to evaluate the size of the PDA, net shunt direction, and to estimate pulmonary artery pressures.

  
  
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  Advanced imaging: May be used if not visible on standard echo images.

  
  
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  Catheterization: Preferred method of determining degree of shunt present and direction of shunt in hemodynamically significant lesions (Figures 17-12C and D).

  
  
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  Management: Small defects with no evidence of overcirculation can be followed every 3 years.

  
  
  
  
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    Closure indicated: Consider closure when there is LA or LV enlargement, prior endocarditis, pulmonary HTN is present with net left-to-right shunt, patient is asymptomatic but PDA is small and can be closed via catheter.

    
    
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    Closure contraindicated: No closure if there is evidence of pulmonary arterial HTN and net right-to-left shunt.

PARTIAL ANOMALOUS PULMONARY VENOUS RETURN

Overview

In PAPVR, one or more of the pulmonary veins drains to the systemic venous system or RA. Although the systemic venous connection can occur at any level, some typical forms include right upper pulmonary vein to RA, left sided pulmonary vein to the innominate vein, right-sided pulmonary vein to the SVC or IVC.

Associated Defects and Physiology

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  Associated defects: Anomalous veins can be associated with pulmonary sequestration and aortopulmonary collaterals (AP collaterals) to the lungs. Although the defect is typically isolated, it may be seen infrequently with other types of CHD. It is common in cases of polysplenia-type heterotaxy.

  
  
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  Physiology: Similar to an ASD, this leads to left-to-right shunting of blood. If ES develops, however, this will not result in reversal of the shunt.

Clinical Findings, Diagnosis, and Management

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  Clinical presentation: Most patients are asymptomatic; however, with larger shunts (>1 anomalous vein), there may be dyspnea on exertion, exercise intolerance, and if RV is significantly involved, there could be signs of right HF.

  
  
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  Examination findings: Physical findings are highly variable. The examination may be completely normal if the shunt is small. If the shunt is large, then there may be evidence of RV enlargement and an RV heave may be appreciated. If severe tricuspid regurgitation (TR) is present or RV failure, there may be peripheral edema, liver congestion, and elevated jugular venous distention.

  
  
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  Electrocardiogram: Usually unremarkable, but with right heart enlargement/dysfunction, there may be RVH.

  
  
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  Chest x-ray: Right heart enlargement and increased pulmonary vascular markings. Scimitar syndrome is the case where PAPVR returns to the IVC, hepatic veins, or subdiaphragmatic veins (Figure 17-13).

  
  
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  Echocardiogram: RA and RV enlargement. Occasionally the anomalous vein can be identified. This is more common on transesophageal imaging.

  
  
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  Advanced imaging: Frequently required to identify the anatomy of pulmonary venous drainage (Figure 17-14).

  
  
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  Catheterization: Important to quantify the degree of shunt, location, and determine whether or not pulmonary HTN is present.

  
  
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  Management:

  
  
  
  
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    Surgical repair is indicated if the shunt is significant (see ASD management) similar to management of ASD. Post repair, about 10% of patients can develop pulmonary venous stenosis at the anastomosis site. This is highly variable based upon center and surgeon experience.

TOTAL ANOMALOUS PULMONARY VENOUS RETURN

Overview

Total anomalous pulmonary venous return (TAPVR) is failure of the pulmonary venous confluence to fuse with the posterior wall of the left atrium. Typically this confluence is behind the RA and a decompressing vein drains to the systemic venous system (SVC, IVC, etc.).

Associated Defects and Physiology

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  Associated defects: If there is partial fusion of the pulmonary venous confluence, a residual perforated membrane between this confluence and the left atrium results in cor triatriatum (Figure 17-15). Asplenia-type heterotaxy is seen with TAPVR in ∼90% of patients.

  
  
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  Physiology: Because all 4 of the pulmonary veins drain to the systemic venous system (and RA, RV), these patients are dependent on shunts at the atrial, ventricular, or PDA level. Repair must be completed in childhood, as most cases are incompatible with life if there is not sufficient mixing of deoxygenated and oxygenated blood.

Clinical Findings, Diagnosis, and Management

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  Clinical presentation: This condition is nearly 100% identified at or prior to birth. Patients without any pulmonary vein obstruction and adequate shunting present with cyanosis, whereas those with pulmonary vein anastomotic stenosis or insufficiency shunt, typically present in cardiogenic shock. Adult patients present late after repair, and it would be highly unusual to survive to adulthood and present without repair.

  
  
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  Examination findings: There may be no symptoms late after repair. If there is obstruction at the repair site then there may be findings consistent with pulmonary HTN.

  
  
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  Electrocardiogram: Repaired patient ECG will be normal.

  
  
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  Chest x-ray: Repaired patient will be normal.

  
  
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  Echocardiogram: Repaired patient will be normal, unless there is stenosis at the anastomosis, then there may be right heart enlargement and/or dysfunction.

  
  
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  Advanced imaging: Can be used to identify the anastomosis/prior surgical repair site.

  
  
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  Catheterization: Most frequently used to determine if there is pulmonary vein stenosis post repair.

  
  
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  Management: The majority of adults will have received surgical repair in childhood. Postoperatively they are followed to monitor for stenosis of the pulmonary veins/anastomosis. A workup for this should be undertaken if there is poor exercise tolerance or pulmonary HTN. Percutaneous stenting or surgery may be undertaken to treat stenosis in a repaired patient.

BICUSPID AORTIC VALVE

Overview

A bicuspid aortic valve (BAV) is an aortic valve with 2 leaflets or cusps, instead of the usual 3 (Figure 17-16). This may occur due to the congenital presence of only 2 cusps, or secondary to a raphe between 2 of the 3 cusps (failure to delaminate). BAV is the most common congenital cardiac malformation, present in 1 in 80 adults. Men are affected more than women, with a male vs female prevalence ratio of 4 to 1. The condition is heritable (autosomal dominant with reduced penetrance). Left coronary cusp and noncoronary cusp fusion is rare, and so typically BAV is classified as either type 1 or type 2.

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  Type 1: Fusion of the right and left coronary cusps (80%)

  
  
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  Type 2: Fusion of the right and noncoronary cusps

Associated Defects and Physiology

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  Associated defects: 10% of patients also have coarctation of the aorta (CoA). Other associations include subaortic stenosis, parachute mitral valve, VSD, PDA. There is at least 1 study that suggests BAV patients have increased risk of cerebral aneurysms (up to 10%).¹²

  
  
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  Physiology: Right-noncoronary cusp fusion is associated with higher risk of developing aortic stenosis and regurgitation. The tissue of the aorta is abnormal in patients with a BAV, and is similar to the cystic medial necrosis of Marfan syndrome (MFS), which increases risk of aortic dilation and dissection, although is felt to do so to less of a degree than typical connective tissue diseases such as MFS.

Clinical Findings, Diagnosis, and Management

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  Clinical presentation: Two-thirds of patients develop symptoms of aortic stenosis (AS) by the fifth decade (ie, angina, dyspnea, syncope). Consider this diagnosis in a young (40- to 60-year-old) patient with AS. Patients with calcific AS typically present after age 70 years.

  
  
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  Examination findings: Patients typically have a systolic ejection sound due to valve opening, which usually disappears by the fourth decade due to calcification. In the presence of associated AS, they may have a crescendo-decrescendo midsystolic murmur at the upper sternal border with radiation to the neck. With more significant AS, the murmur peaks later and peripheral pulses are diminished and delayed (pulsus parvus et tardus).

  
  
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  Electrocardiogram: There may be signs of LV hypertrophy, left atrial enlargement, or ST-T repolarization.

  
  
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  Chest x-ray: The chest x-ray is typically normal, although may show cardiomegaly if LV hypertrophy or dilation is present, or signs of calcification of the valve if the patient has developed AS.

  
  
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  Echocardiogram: TTE is used to qualify the lesion (anatomy of cusp fusion), to quantify degree of AS or aortic insufficiency if present, and to assess the aortic root. May require TEE if difficult to visualize via transthoracic (Figure 17-17).

  
  
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  Advanced imaging: MRI or CT may be useful to evaluate the thoracic aorta, particularly if concomitant aortopathy is present.

  
  
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  Catheterization: Cardiac catheterization is recommended if there is discordance between patient symptoms and diagnostic imaging studies. However, if symptoms and surface echocardiogram findings are concordant, cardiac catheterization is not required for diagnosis of this condition or evaluation of the degree of stenosis (AS)/regurgitation (AR).

  
  
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  Management:

  
  
  
  
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    Medical therapy: Beta blockers are indicated for patients with BAV and aortic dilatation (class IIa indication). Statins can be used to delay valve sclerosis (class IIb indication). Angiotensin II receptor blockers (ARBs) are currently under study to determine if they reduce rates of aortic dilatation. Endocarditis prophylaxis is not required unless there has been replacement of the valve.

    
    
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    Serial imaging: TTE should be done yearly (as well as ECG) for AS when mean Doppler gradient >30 mm Hg or peak gradient >50 mm Hg, and every 2 years if gradients are less (with ECG) (class I indication). The aorta should be imaged with CT or MRI annually if >40 mm, or every 2 years if <40 mm; however, some studies indicate that imaging can be as infrequent as every 5 years if the aorta is normal in size.

    
    
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    Invasive therapies:

    
    
    
    
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      Balloon valvuloplasty: In older adults, this can be considered as a bridge to aortic valve replacement (class IIb indication), but is otherwise generally contraindicated. It is, however, indicated in the following groups of young adults or adolescents:

      
      
      
      
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        Class I indications: No calcification of the valve and no AR AND the patient has symptoms (angina, dyspnea, syncope) AND peak-to-peak gradient >50 mm Hg; ST or T wave abnormalities with rest or exercise AND peak-to-peak gradient >60 mm Hg.

        
        
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        Class IIa indications: Peak-to-peak gradient >50 mm Hg in preparation for pregnancy or activity in competitive sport.

      
      
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      Surgical repair/replacement: Indications are similar to those for AS or AR with a normal valve:

      
      
      
      
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        Class I indications: Patient with severe AS and symptoms or with LV dysfunction (LVEF <50%); adolescent/young adult with severe AR, symptoms, and LVEF <50% or LV end-diastolic diameter (LVEDD) >4 standard deviations above normal; at the time of ascending aorta repair when the ascending aorta is >5.0 cm or dilatation ≥5 mm/year.

        
        
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        Class IIa indications: Asymptomatic patient with severe AR, normal LVEF, but severe LV dilatation (LVEDD >75 mm; or LV end-systolic diameter >55 mm).

        
        
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        Several class IIb indications exist, but are not discussed further here.