Congenital Heart Disease Treatment

Common Types of Congenital Heart Defects

Atrial Septal Defect (ASD)

A hole in the wall (septum) between the two upper chambers of the heart (atria). Allows blood to flow from the left atrium to the right atrium, increasing the volume load on the right heart. The most common congenital defect presenting in adults. Often asymptomatic until middle age but can cause arrhythmias, right heart enlargement, and eventually pulmonary hypertension if left untreated.

Ventricular Septal Defect (VSD)

A hole in the wall between the two lower chambers (ventricles). The most common congenital heart defect overall. Small VSDs may close spontaneously in childhood. Large VSDs cause a significant shunt, left heart volume overload, and require closure. Moderate VSDs that persist into adulthood require assessment and likely closure to prevent long-term complications.

Patent Ductus Arteriosus (PDA)

The ductus arteriosus is a vessel connecting the aorta to the pulmonary artery that is normal in fetal circulation but should close within days of birth. Persistent PDA allows blood to flow from the aorta into the pulmonary artery, increasing pulmonary blood flow. Small PDAs may be asymptomatic but are at risk of infective endocarditis. Significant PDAs require closure.

Bicuspid Aortic Valve

The aortic valve has two leaflets instead of the normal three. Affects 1 to 2% of the population. Associated with accelerated valve degeneration causing aortic stenosis or regurgitation, and aortic root dilation requiring surveillance. The most common congenital heart anomaly in adults.

Tetralogy of Fallot (TOF)

A combination of four defects: VSD, overriding aorta, pulmonary stenosis, and right ventricular hypertrophy. The most common cyanotic congenital heart defect. Virtually all surviving adults have had surgical repair in childhood and require lifelong cardiology follow-up for residual problems including pulmonary regurgitation, right ventricular dysfunction, and ventricular arrhythmias.

Coarctation of the Aorta

A narrowing of the aorta, usually just beyond the origin of the left subclavian artery. Causes hypertension in the upper body and reduced flow to the lower body. Associated with bicuspid aortic valve. Treated with surgical or balloon-based repair, but blood pressure often remains elevated even after successful treatment.

Pulmonary Stenosis

Narrowing of the pulmonary valve or the area just below or above it, obstructing blood flow from the right ventricle to the lungs. Mild pulmonary stenosis is well tolerated lifelong. Severe stenosis is treated with balloon valvuloplasty or surgery.

Transposition of the Great Arteries (TGA)

The aorta arises from the right ventricle and the pulmonary artery from the left ventricle, reversing normal circulation. Incompatible with life without early surgery. All surviving adults have had complex surgical repair in infancy and require lifelong specialist follow-up.

Symptoms of Congenital Heart Disease in Adults

Adults presenting with previously undiagnosed CHD, or with a known defect that has changed, may experience any of the following:

Breathlessness:

Particularly with exertion, from reduced cardiac output, pulmonary hypertension, or arrhythmia.

Fatigue and reduced exercise tolerance:

Disproportionate tiredness with activity, often attributed incorrectly to deconditioning or other causes.

Palpitations:

Arrhythmias, including atrial flutter, atrial fibrillation, and ventricular tachycardia, are common complications in adult CHD.

Cyanosis:

Bluish discoloration of the lips, fingertips, or toes, indicating reduced oxygen saturation from a right-to-left shunt. More common in complex, unrepaired, or residual defects.

Heart murmur:

Detected on examination, often the first sign of an undiagnosed defect in an asymptomatic adult.

Leg swelling:

From right heart failure, more common in patients with pulmonary hypertension or significant shunt lesions.

Stroke or TIA:

Paradoxical embolism through an ASD or patent foramen ovale (PFO) can cause stroke in young adults without other obvious stroke risk factors.

Diagnosis of Congenital Heart Disease

2D Echocardiography:

Echo with Doppler and color flow mapping is the primary investigation. It identifies structural defects, measures shunt size, assesses chamber function and pressures, and guides intervention planning.

Transoesophageal Echocardiography (TOE):

Provides superior visualization of the atrial septum for ASD and PFO assessment, and guides device closure procedures.

Cardiac MRI:

The gold standard for quantifying shunt size, right ventricular function, and great vessel anatomy. Essential in complex CHD and for follow-up of repaired defects.

CT Angiography:

Provides detailed 3D anatomy of the heart and great vessels. Valuable for surgical planning in complex lesions and for assessing aortic anatomy in bicuspid aortic valve and coarctation.

Cardiac Catheterization:

Measures pressures in all heart chambers and calculates shunt ratios accurately. Essential when pulmonary hypertension is suspected, as pulmonary vascular resistance determines whether a defect is safely closeable.

Genetic Testing:

Relevant when CHD is associated with chromosomal or gene-based syndromes, including Down syndrome (ASD, VSD, AVSD), Turner syndrome (coarctation, bicuspid aortic valve), and 22q11 deletion syndrome (conotruncal defects).

Treatment of Congenital Heart Defects at Germanten

Catheter-Based Defect Closure

Most ASDs and many VSDs and PDAs can now be closed through a catheter-based approach without open-heart surgery. A closure device (most commonly an Amplatzer or equivalent device) is delivered through a catheter via the femoral vein, positioned across the defect under echocardiographic and fluoroscopic guidance, and deployed to occlude the hole. Learn more about our ASD and VSD closure programme.

Surgical Repair

Defects not suitable for catheter-based closure, or those requiring combined procedures (valve repair plus defect closure), are treated surgically. Open repair under cardiopulmonary bypass allows direct visualization and precise correction of complex anatomy. Surgical repair of simple defects such as ASD and VSD carries very low operative mortality at experienced centers.

Arrhythmia Management

Adults with CHD have a significantly higher lifetime risk of arrhythmias than the general population. Atrial flutter and fibrillation are particularly common after atrial-level surgical repairs. Radiofrequency ablation, antiarrhythmic medications, and in selected patients pacemaker or ICD implantation, are used based on the arrhythmia type and underlying anatomy.

Pulmonary Hypertension Management

When a large shunt has been present for years without closure, the pulmonary blood vessels can develop fixed high-pressure disease (Eisenmenger syndrome), at which point defect closure is no longer safe or beneficial. These patients are managed with targeted pulmonary arterial hypertension therapies. The window for safe defect closure emphasizes the importance of early detection and timely intervention.