Adult congenital heart disease (ACHD) is a problem with the heart’s structure and function that occurred at birth. ACHD can describe a number of different problems affecting the heart. It is the most common type of birth defect in the United States (there are over 1 million adults living with a congenital heart defect in this country) and causes more deaths in the first year of life than any other birth defects.

It is often divided into two types: cyanotic (causing a bluish discoloration of the skin and mucous membranes due to not enough oxygen in the blood) and acyanotic.

Cyanotic:

• Ebstein’s anomaly
• Hypoplastic left heart
• Pulmonary atresia
• Tetralogy of Fallot
• Total anomalous pulmonary venous return
• Transposition of the great vessels
• Tricuspid atresia
• Truncus arteriosus

Acyanotic:

• Aortic stenosis
• Bicuspid aortic valve
• Atrial septal defect (ASD)
• Atrioventricular canal (endocardial cushion defect)
• Coarctation of the aorta
• Patent ductus arteriosus (PDA)
• Pulmonic stenosis
• Ventricular septal defect (VSD)

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Signs & Symptoms

Symptoms depend on the condition and in many cases symptoms do not appear right away.

Defects such as coarctation of the aorta may not cause problems for years. Other problems, such as a small VSD, ASD, or PDA may never cause any problems.

In other cases, symptoms such as shortness of breath, a blue tint to the skin, lips, or fingernails, easily tiring with activity, or an abnormal heart rhythm can be signs of a congenital defect.

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Diagnosis

Using a multidisciplinary approach, Deborah Specialty Physicians evaluate both the physical limitations of the disease and psychosocial issues as well as reproductive and genetic issues. Each patient undergoes a detailed diagnostic work-up, which may include the following tests:

• Electrocardiogram (ECG)
• Echocardiogram (transthoracic or transesophageal)
• X-rays
• Exercise stress testing
• Heart rhythm monitoring (Holter, Event monitoring)
• Cardiac MRI
• CT angiography
• Diagnostic cardiac catheterizations and angiography
• Pulmonary angiogram