Congenital Heart Conditions

According to the Adult Congenital Heart Association (ACHA), there are about one million adults living with Congenital Heart Diseases (CHDs) in the U.S.  The majority need ongoing specialized care.  The Emory Adult Congenital Heart Center is one of only a few programs of its kind in the U.S. — and the only one in Georgia — specializing in the diagnosis and treatment of adults with moderate and complex congenital heart defects (CHDs). The program features a multidisciplinary management team that diagnoses adult patients with congenital heart diseases and provides the best care available.

Adult Congenital Heart Disease (CHD) Facts:

  •  Adults with CHDs can have a broad range of concerns, including:
      o Unrepaired congenital defects
      o Heart failure
      o Complications associated with earlier repairs
      o Newly recognized CHDs not found until adulthood
      o Complex arrhythmias
      o Pregnancy issues

Some of the most common conditions that cause congenital heart disease are:

Atrial Septal Defects (ASDs)

An ASD is a hole in the wall that separates the two upper chambers of the heart. There are many different kinds of ASDs, and they can be diagnosed in both children and adults. Some ASDs only require follow-up observation, but many require surgical repair. In some cases, ASDs can be repaired non-surgically using specialized closure devices placed within the heart during a minimally invasive catheterization procedure. Evaluation and treatment of ASDs should be performed by doctors who specialize in congenital heart disease as complications may occur when they are treated incorrectly.

Bicuspid Aortic Valve Disease

The aortic valve typically consists of three leaflets; in bicuspid valve disease, there are only two functional leaflets. This can lead to aortic valve stenosis (stiffening) and regurgitation (reverse blood flow). Many patients with bicuspid valve disease require either valve replacement or replacement of a portion of the aorta because of abnormal enlargement related to the malfunctioning bicuspid valve.

Coarctation of the Aorta

Coarctation of the aorta is obstruction or narrowing of the aorta that typically occurs just beyond the left subclavian artery (the artery that supplies blood to the left arm). This condition can lead to hypertension in both children and adults. It is commonly associated with a bicuspid aortic valve. Even when repaired in childhood, ongoing follow-up as an adult is required to screen for abnormal growth of the aorta, re-narrowing of the aorta and heart valve disease that requires surgery.

Ebstein's Anomaly

This disease covers a number of abnormalities of the tricuspid valve, which separates the upper right and lower right chambers of the heart. Ebstein’s anomaly can result in severe tricuspid valve regurgitation (reverse blood flow), heart rhythm disorders and associated atrial septal defects. The severity of the disease can vary greatly: Some people with Ebstein’s anomaly require heart valve replacement, while others may only develop a mild heart rhythm disorder. Follow-up as an adult in extremely important in both repaired and unrepaired patients.

Pregnancy and Congenital Heart Disease

Women with both repaired and unrepaired congenital heart defects should consult with a number of medical specialists prior to becoming pregnant to help reduce the risk of certain complications. This generally includes pre-pregnancy counseling with a maternal-fetal medicine specialist and an obstetrician who specializes in high-risk pregnancies, as well as regular follow-up with an adult congenital heart disease specialist during pregnancy.

Single Ventricle Defects: The Fontan Procedure

The Fontan procedure is performed in patients who have single ventricle defects, which are some of the most complex heart conditions. The Fontan procedure allows oxygen-poor blood to flow directly to the lungs, bypassing the heart entirely. Follow-up in adult patients is important to screen for heart rhythm disorders, abnormal heart function and heart valve regurgitation (reverse blood flow). Liver injury may also be among the long-term complications. A combination of medical, surgical and interventional procedures may be required to address these problems.

Tetralogy of Fallot

Tetralogy of Fallot is one of the most common congenital heart defects in children. The condition results in low levels of oxygen in the blood, which can cause the skin to appear blue (cyanosis). Tetralogy of Fallot involves four heart malfunctions that occur together: pulmonary stenosis (narrowing of the heart’s pulmonary valve), a ventricular septal defect, an overriding aorta (a defective connection between the aorta and the heart) and right ventricular hypertrophy (thickening of the ventricle wall). Tetralogy of Fallot is commonly repaired in early childhood.

The most common complication in adult congenital heart patients is severe pulmonary valve regurgitation (reverse blood flow), which can require surgical repair. In adult patients, heart rhythm disorders and abnormal heart function may also occur as a result of childhood tetralogy of Fallot.

Transposition of the Great Arteries

In this disease, the positions of the aorta and pulmonary artery are reversed, causing oxygen-rich blood to flow to the lungs and oxygen-poor blood to flow to the body. Transposition of the great arteries requires corrective surgery in the first weeks of life.

Depending on the type of repair performed in childhood, an adult who was born with this condition needs ongoing follow-up to screen for abnormal blood diversion and irregular heart rhythms and to assess left and right heart function.

Ventricular Septal Defects (VSDs)

A VSD is a hole in the wall that separates the two lower chambers of the heart. There are many different kinds of VSDs; some require early surgical repair, while others only require follow-up observation. In rare cases, large uncorrected VSDs can lead to the development of pulmonary hypertension and low oxygen levels in the blood. Follow-up in adulthood is important to screen for residual defects and complications that can result from unrepaired defects.

Complete list of “Simple, Moderately Severe and Complex” Congenital Heart Disease conditions.

Simple Congenital Heart Disease* (Group 1)

Simple CHDs are relatively uncomplicated heart defects that are not associated with other heart conditions. Patients with these conditions may not require treatment in an adult CHD (ACHD) center. These patients can usually be cared for in the general medical community.

Native conditions:
Isolated congenital aortic valve disease
Isolated congenital mitral valve disease (except parachute valve, cleft leaflet)
Isolated patent foramen ovale or small atrial septal defect
Isolated small ventricular septal defect (no associated lesions)
Mild pulmonic stenosis

Repaired conditions:
Previously ligated or occluded ductus arteriosus
Repaired secundum or sinus venosus
Atrial septal defect without residua
Repaired ventricular septal defect without residua

*Adapted from “Care of the Adult with Congenital Heart Disease.” Presented at: the 32nd Bethesda Conference; October 2-3, 2000; Bethesda, MD.

Moderately Severe Congenital Heart Disease* (Group 2)

Moderately severe and complex congenital heart diseases include more serious defects that occur during the heart’s development. These conditions generally require surgical repair and long-term management at an ACHD center such as EACH. These patients should be seen periodically at adult congenital heart disease centers.

Aorto-left ventricular fistulae
Anomalous pulmonary venous drainage (partial or total)
Atrioventricular canal defects (partial or complete)
Coarctation of the aorta
Ebstein’s anomaly
Infundibular right ventricular outflow obstruction of significance
Ostium primum atrial septal defect
Patent ductus arteriosus (not closed)
Pulmonary valve regurgitation (moderate to severe)
Pulmonic valve stenosis (moderate to severe)
Sinus of Valsalva fistula/aneurysm
Sinus venosus atrial septal defect
Subvalvar or supravalvar aortic stenosis (except HOCM†)
Tetralogy of Fallot
Ventricular septal defect with:
    Absent valve or valves
    Aortic regurgitation
    Coarctation of the aorta
    Mitral disease
    Right ventricular outflow tract obstruction
    Straddling tricuspid/mitral valve
    Subaortic stenosis

†HOCM = hypertrophic obstructive cardiomyopathy

*Adapted from “Care of the Adult with Congenital Heart Disease.” Presented at: the 32nd Bethesda Conference; October 2-3, 2000; Bethesda, MD.

Complex Congenital Heart Disease* (Group 3)

These patients should be seen regularly at adult congenital heart disease centers.

Conduits, valved or nonvalved
Cyanotic congenital heart (all forms)
Double-outlet ventricle
Eisenmenger syndrome
Fontan procedure
Mitral atresia
Single ventricle (also called double inlet or outlet, common or primitive)
Pulmonary atresia (all forms)
Pulmonary vascular obstructive diseases
Transposition of the great arteries
Congenitally corrected transposition of the great arteries
Tricuspid atresia
Truncus arteriosus/hemitruncus

Other abnormalities of atrioventricular or ventriculoarterial connection not included above (i.e., crisscross heart, isomerism, heterotaxy syndromes).

*Adapted from “Care of the Adult with Congenital Heart Disease.” Presented at: the 32nd Bethesda Conference; October 2-3, 2000; Bethesda, MD.

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