Congenital heart disease is an abnormality of the heart’s structure and function present at birth. It can describe a number of different conditions affecting the heart. It is the most common type of birth defect in the United States and causes more deaths in the first year of life than any other type of birth defect. Advances in diagnosis and treatment of congenital heart disease, including surgical and interventional catheterization techniques, have saved many lives, and today there are over one million adults living with congenital heart disease in the United States.

Congenital heart disease 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 syndrome
• 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
• Congenital anomalies of the coronary arteries
• Patent ductus arteriosus (PDA)
• Pulmonic stenosis
• Ventricular septal defect (VSD)

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Signs & Symptoms

Depending on the severity, some congenital heart defects cause problems right away at birth, while others may not cause problems until later, and some minor defects may never cause problems at all.

Symptoms depend on the type and severity of the condition. In some cases symptoms may not appear right away or at all. 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 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 (EKG or ECG)
• Echocardiogram
• X-rays
• Exercise stress testing
• Heart rhythm monitoring (Holter, Event monitoring)
• Cardiac MRI
• CT angiography
• Diagnostic cardiac catheterizations and angiography