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Ashley EA, Niebauer J. Cardiology Explained. London: Remedica; 2004.

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Cardiology Explained.

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Chapter 14Adult congenital heart disease

Congenital abnormalities of the heart and cardiovascular system are reported in almost 1% of live births (see Figure 1) and about half of these children need medical or surgical help during infancy. In the first decade, a further 25% require surgery to maintain or improve their life. Only 10% survive to adolescence without surgery. Of these 10%, however, many live a normal life for years before their abnormality is discovered.

Figure 1. The relative incidence of common congenital heart defects.

Figure 1

The relative incidence of common congenital heart defects. ASD: atrial septal defect; PDA: patent ductus arteriosus; TGA: transposition of the great arteries; VSD: ventricular septal defect.

Recognizing adult congenital heart disease

There are a few signs that should alert generalists to the possibility of congenital heart disease:

  • murmurs, especially continuous – there are few degenerative diseases that produce continuous murmurs
  • cyanosis, clubbing – unless there is coexistent lung disease, a patient with a murmur and cyanosis should be referred for echocardiography
  • right bundle branch block (RBBB) – this occurs in 1% of the middle-aged population without disease. When combined with a murmur, the patient should be referred for echocardiography

In most cases, suspicion of congenital heart disease leads to a cardiology referral. However, an awareness of the possible diagnoses will help your referral.

Ventricular septal defect

Ventricular septal defect (VSD) (see Figures 2 and 3) is the most common congenital heart defect. Symptoms depend on the size of the defect and the age of the patient. Small VSDs are usually asymptomatic and compatible with a normal life (in fact, about 40% close spontaneously in early childhood). Large VSDs cause cardiac failure in the second or third month after birth. If a large shunt does not produce symptoms during infancy, there is usually little disturbance until late adolescence or early adult life when the patient develops high pulmonary vascular resistance, breathlessness, fatigue, and cyanosis. There is progression to effort syncope, recurrent hemoptysis, and heart failure.

Figure 2. Ventricular septal defect.

Figure 2

Ventricular septal defect.

Figure 3. Atrial septal defect.

Figure 3

Atrial septal defect.

Recognizing VSD

In VSD patients, the apex beat may be hyperdynamic and there could be a systolic thrill. The classic sign is a loud pansystolic murmur, often accompanied by a mid diastolic murmur at the apex (due to high flow through the mitral valve) (see Table 1). In patients with raised pulmonary vascular resistance, right ventricular hypertrophy (RVH) is evident and the pulmonary second sound might be accentuated, followed by the early diastolic murmur of pulmonary regurgitation.

Table 1. Characteristics of atrial septal defect and ventricular septal defect. Note the wide, fixed splitting of the second heart sound in atrial septal defect.

Table 1

Characteristics of atrial septal defect and ventricular septal defect. Note the wide, fixed splitting of the second heart sound in atrial septal defect.

With small VSDs, the electrocardiogram (ECG) is normal. With larger ones, there is evidence of biventricular enlargement (tall R waves and deep S waves in leads V1–V6), especially when pulmonary vascular resistance is high. Similarly, with a small defect the chest x-ray (CXR) is normal, but with a large shunt there is cardiomegaly and prominence of the pulmonary vessels.

Large shunts should be closed surgically. However, if pulmonary hypertension has developed, surgery is usually contraindicated as closing it may worsen the pulmonary hypertension.

The main complication of VSD is infective endocarditis. Vegetations may appear at the tricuspid valve, opposite or around the defect, or on the aortic valve. In certain lesions, aortic incompetence may develop due to loss of support of the valve.

The prognosis for adults with uncomplicated VSD is good. Few patients have defects large enough to cause serious hemodynamic problems, but all are exposed to the risk of infective endocarditis.

Atrial septal defect

Three types of atrial septal defect (ASD) can occur:

  • ostium secundum is the most common type (70%). It can be large, but usually does not affect the atrioventricular valves (see Figures 3 and 4)
  • ostium primum – the hole is situated close to the atrioventricular valves and can be associated with an atrioventricular septal defect
  • sinus venosus is a defect situated near the entrance of the superior vena cava (SVC) or inferior vena cava to the right atrium. It is unusual and is often associated with partial anomalous pulmonary venous drainage (usually drainage of the right upper lobe into the SVC)

Figure 4. Atrial septal defect (ASD) shown by (a) transesophageal echocardiography, and (b) transesophageal Doppler.

Figure 4

Atrial septal defect (ASD) shown by (a) transesophageal echocardiography, and (b) transesophageal Doppler.

Pathophysiology

The shunt of blood from the left atrium to the right atrium results in:

  • increased volume load and dilatation of the right atrium and right ventricle (RV)
  • increased pulmonary blood flow and enlargement of the pulmonary arteries
  • increase in size of the pulmonary veins
  • reduced filling of the left ventricle (LV) and aorta

Over time, the aorta and LV shrink, and pulmonary vascular resistance increases and causes Eisenmenger syndrome (see below).

Recognizing ASD

Most patients with secundum ASD remain asymptomatic throughout their thirties, but visit their doctor in middle-age with the onset of breathlessness and fatigue (note the nonspecific signs). Symptoms are usually progressive and worsened by the development of atrial arrhythmias. Patients with primum ASD tend to present earlier and with more severe symptoms.

The classic sign of ASD is wide, fixed splitting of the second heart sound, together with a systolic murmur due to high flow across the pulmonary valve (see Table 1). Primum ASD may be accompanied by mitral regurgitation.

ECG might indicate RBBB and either RVH and right axis deviation (secundum) or left axis deviation (primum) (see Table 1). CXR may show cardiomegaly with a prominent pulmonary trunk.

Management

ASDs that are large enough to give clear physical signs should be closed. Closure of an ostium secundum defect is relatively easy and carries a low mortality rate. Correction of an ostium primum defect, with its associated anomalies, is more difficult and carries a higher mortality rate. More recently, percutaneous device closure of small and moderate size ASDs has been possible. In this procedure, a "butterfly" device (eg, the Clamshell occluder, the Starflex occluder, or the Amplatzer occluder) is manipulated noninvasively into the heart and "opened", whereupon it grasps the defect on either side and closes it (see Figures 5 and 6).

Figure 5. The Clamshell occluder for closure of an atrial septal defect.

Figure 5

The Clamshell occluder for closure of an atrial septal defect. IVC: inferior vena cava; LA: left atrium; RA: right atrium.

Figure 6. The Amplatzer occluder (a) before and (b) after deployment.

Figure 6

The Amplatzer occluder (a) before and (b) after deployment.

Primum ASD requires prophylaxis for infective endocarditis, while secundum ASD does not.

Eisenmenger syndrome

This is the name given to reversal in the direction of a cardiac shunt caused by the development of pulmonary hypertension. It applies regardless of whether the shunt is atrial or ventricular. Initial flow is always from high pressure (left) to low pressure (right), but pulmonary pressure can rise above systemic pressure and cause a reversal of flow.

Signs of pulmonary hypertension are RVH, pulmonary systolic click, and loud pulmonary valve closure. CXR shows large main pulmonary arteries and branches with peripheral pruning. After the development of Eisenmenger physiology, only heart–lung transplantation is of value in management.

Bicuspid aortic valve

Bicuspid aortic valves often function normally throughout most of a patient's life. However, fibrosis and calcification ultimately lead to aortic stenosis (see Chapter 9, Valve disease) and an eventual requirement for surgical correction.

Coarctation of the aorta

Coarctation of the aorta is a narrowing of the lumen, usually just distal to the origin of the left subclavian artery (see Figure 7). Most commonly, the patient presents in their twenties or thirties, usually with hypertension. Without surgery, 50% die before the age of 30 years. Potential treatments include resection of the narrowed segment with end-to-end anastomosis, repair involving the subclavian artery, and balloon angioplasty – the role of which remains controversial. Hypertension, which is often the presenting feature, must be aggressively treated both before and after surgery (it commonly persists).

Figure 7. Coarctation of the aorta.

Figure 7

Coarctation of the aorta.

Pulmonary valve stenosis

Patients with mild to moderate pulmonary stenosis usually remain asymptomatic until the onset of atrial flutter/fibrillation or right heart failure, which lead to breathlessness, ascites, peripheral edema, and a visit to the doctor. Fatigue, slight dyspnea, and effort syncope occur with severe narrowing. The physical signs depend on the severity of the obstruction and secondary effects on RV function. In severe stenosis, the arterial pulse is small and the jugular venous pulse exhibits a large "a" wave. On palpation, there is nearly always a systolic thrill in the second left intercostal space and there is a left parasternal heave. An early systolic "ejection" click and a loud ejection murmur are best heard in the second intercostal space. The second sound is normal in mild cases, but in more severe cases it is widely split and the second (pulmonary) element is soft. ECG shows RVH in severe stenosis, while CXR shows a dilated pulmonary trunk with oligemic lung fields. Balloon valvotomy is indicated in severe pulmonary stenosis. Surgical valvotomy is an alternative.

Patent ductus arteriosus

Patent ductus arteriosus (PDA) describes a preservation of the connection between the pulmonary artery and the aorta that exists in the fetus (see Figure 8). Since aortic diastolic pressure is higher than pulmonary artery systolic pressure, there is continuous flow into the pulmonary circulation, creating the characteristic continuous ("machinery") murmur, heard best just below the left clavicle. In hemodynamically insignificant lesions (>50% of cases), patients are asymptomatic. Patients with bigger shunts develop cardiac failure at an age that depends on the severity of the lesion. Eisenmenger syndrome can occur with PDA. Treatment is surgical closure of the duct; this can be carried out percutaneously.

Figure 8. Patent ductus arteriosus (PDA).

Figure 8

Patent ductus arteriosus (PDA).

Fallot's tetralogy

Fallot's tetralogy is one of the causes of cyanotic congenital heart disease. The features derive from an abnormally positioned aorta that "over-rides" the interventricular septum (see Figure 9). This causes:

Figure 9. Fallot's tetralogy with an "over-riding aorta".

Figure 9

Fallot's tetralogy with an "over-riding aorta".

  • perimembranous VSD
  • RV outflow obstruction (pulmonary stenosis)
  • RVH

The chief symptom is cyanosis on exercise. Children typically "squat" for relief of dyspnea after exercise (almost pathognomonic). Chest pain, arrhythmia, and congestive heart failure are more common in adults than in children. Clubbing is common. Surgical correction usually involves resection of the hypertrophied RV infundibulum and VSD closure with incorporation of the aorta into the RV. Adult Fallot's patients often suffer impaired exercise capacity due to poor RV function.

Transposition of the great arteries

In transposition of the great arteries (TGA), the RV connects to the aorta and the LV connects to the pulmonary artery (see Figure 10). The result, following peripartum closure of the foramen ovale, is two parallel circulations – a physiology that is not compatible with life. The neonate would die instantly were it not for the common coexistence of a patent foramen ovale, ASD, VSD, or PDA. In infants, an improvement in symptoms can be achieved by creating a large defect in the atrial septum to allow mixing of the blood between systemic and pulmonary circulations (Rashkind's procedure – see Figure 11). This is performed by passing a balloon catheter into the left atrium via the right atrium. After inflation, the balloon catheter is pulled back forcefully into the right atrium, creating a tear in the septum. This procedure is usually effective in the neonatal period and allows the child to live until the latter part of the first year of life, when the Mustard operation can be performed. This involves rerouting venous return by inserting an intra-atrial baffle. The definitive treatment is the arterial switch operation, in which the arteries are switched back to their appropriate ventricles. The biggest challenge with this procedure is reattaching the coronary arteries, the anatomical organization of which is variable in TGA. In addition, the "low pressure" LV must take on filling of the systemic circulation.

Figure 10. Transposition of the great arteries (right-hand image).

Figure 10

Transposition of the great arteries (right-hand image).

Figure 11. Balloon atrial septostomy – Rashkind's procedure.

Figure 11

Balloon atrial septostomy – Rashkind's procedure. ASD: atrial septal defect.

Ebstein's anomaly

Ebstein's anomaly is the downward displacement of a portion of the tricuspid valve with atrialization of a large part of the RV (see Figure 12). There is often an associated ostium secundum ASD. The atrialized portion of the ventricle hinders rather than helps the forward flow of blood and there is tricuspid regurgitation. Occasionally Ebstein's anomaly is asymptomatic, but it generally presents in childhood or early adulthood with dyspnea, fatigue, signs of tricuspid regurgitation, and right-sided cardiac failure. Patients with Ebstein's anomaly require prophylaxis for endocarditis.

Figure 12. Ebstein's anomaly.

Figure 12

Ebstein's anomaly.

Further reading

  1. Deanfield J, Thaulow E, Warnes C. et al. ; Task Force on the Management of Grown Up Congenital Heart Disease, European Society of Cardiology; ESC Committee for Practice Guidelines. Management of grown up congenital heart disease. Eur Heart J. 2003;24:1035–84. [PubMed: 12868424]
  2. Dent JM. Congenital heart disease and exercise. Clin Sports Med. 2003;22:81–99. [PubMed: 12613088]
  3. Morris PJ, Wood WC, editors. Oxford Textbook of Surgery, 2nd edition. Oxford University Press, 2000.
  4. Report of the British Cardiac Society Working Party. Grown-up congenital heart (GUCH) disease: current needs and provision of service for adolescents and adults with congenital heart disease in the UK. Heart. 2002;88(Suppl. 1):i1–14. [PMC free article: PMC1876264] [PubMed: 12181200]
Copyright © 2004, Remedica.
Bookshelf ID: NBK2212

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