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Other Birth Defects of the Heart

By

Lee B. Beerman

, MD, Children's Hospital of Pittsburgh of the University of Pittsburgh School of Medicine

Last full review/revision Mar 2021| Content last modified Mar 2021
Click here for the Professional Version

Most of these defects are rare. Some of these include

  • Aortopulmonary window

  • Congenitally corrected transposition of the great arteries

  • Double outlet right ventricle

  • Ebstein anomaly

  • Pulmonary atresia with an intact ventricular septum

  • Single ventricle defects

  • Tricuspid atresia

Surgical repair of the defect is usually needed.

Aortopulmonary window

Doctors make the diagnosis based on what they find on examining the infant and results of imaging tests, usually echocardiography.

Surgical repair of aortopulmonary window should be done as soon as possible after diagnosis.

Congenitally corrected transposition of the great arteries

Congenitally corrected transposition of the great arteries is relatively rare. In this anomaly, the normal connections of the aorta and the pulmonary artery are reversed, but the lower heart chambers (the ventricles) are also reversed, thus "correcting" the circulation so that the oxygen-poor venous blood goes into the lungs and oxygenated blood goes out to the body as it normally should. Most affected infants have other heart abnormalities as well, such as ventricular septal defect Atrial and Ventricular Septal Defects Atrial and ventricular septal defects are holes in the walls (septa) that separate the heart into the left and right sides. Holes can be present in the walls of the heart between the upper heart... read more Atrial and Ventricular Septal Defects , pulmonic stenosis Pulmonary Valve Stenosis in Children Pulmonary valve stenosis is a narrowing of the pulmonary valve (sometimes called the pulmonic valve), which opens to allow blood to flow from the right ventricle to the lungs. The heart valve... read more , and Ebstein anomaly or another defect of the tricuspid valve.

These abnormalities result in a wide range of symptoms. An abnormally slow heart rhythm (called heart block Overview of Heart Block Heart block is a delay in the conduction of electrical current as it passes through the conduction system of the heart, including the atrioventricular node, bundle of His, or both bundle branches... read more ) may develop. In heart block, the electrical signals from the upper chambers of the heart do not travel down to the lower chambers. Heart blocks is treated with a pacemaker.

As affected children reach adulthood, a common concern is the development of worsening function of the muscular wall of the right ventricle, which may cause heart failure Heart Failure (HF) Heart failure is a disorder in which the heart is unable to keep up with the demands of the body, leading to reduced blood flow, back-up (congestion) of blood in the veins and lungs, and/or... read more Heart Failure (HF) .

Double outlet right ventricle

In double outlet right ventricle, both the aorta and the pulmonary artery are connected to the right ventricle and no artery attaches to the left ventricle. Infants with double outlet right ventricle also have a hole between the ventricles (ventricular septal defect Atrial and Ventricular Septal Defects Atrial and ventricular septal defects are holes in the walls (septa) that separate the heart into the left and right sides. Holes can be present in the walls of the heart between the upper heart... read more Atrial and Ventricular Septal Defects ). Oxygen-rich blood in the left ventricle flows through the ventricular septal defect, allowing the oxygen-rich blood to mix with the oxygen-poor blood in the right ventricle before getting pumped out of the heart. Therefore, some oxygen-poor blood is circulated to the body. Symptoms vary depending on the associated abnormalities in the heart such as pulmonic valve stenosis Pulmonary Valve Stenosis in Children Pulmonary valve stenosis is a narrowing of the pulmonary valve (sometimes called the pulmonic valve), which opens to allow blood to flow from the right ventricle to the lungs. The heart valve... read more . Symptoms include rapid breathing, poor feeding, easy tiring, and/or bluish color of the lips, nail beds, and skin (cyanosis). Surgical repair is needed.

Ebstein anomaly

If the abnormal tricuspid valve causes severe symptoms, the valve is surgically repaired.

Pulmonary atresia with intact septum

In pulmonary atresia, the pulmonic (pulmonary) valve does not form properly and does not open, so blood does not flow into the lungs and pick up oxygen. Therefore, oxygen-poor blood is circulated to the body. Pulmonary atresia frequently occurs together with other heart disorders and with abnormalities of the coronary arteries. The symptoms and surgical treatment options depend on what type of other abnormalities are also present.

Single ventricle defects

Single ventricle abnormalities include any complex heart defect in which there is only one functional ventricle. Symptoms depend on the exact abnormality and whether pulmonic valve stenosis Pulmonary Valve Stenosis in Children Pulmonary valve stenosis is a narrowing of the pulmonary valve (sometimes called the pulmonic valve), which opens to allow blood to flow from the right ventricle to the lungs. The heart valve... read more is also present. Most infants have a bluish color of the skin (cyanosis). Infants with severe pulmonic stenosis may be very blue and require a surgical procedure fairly quickly. Infants without pulmonic stenosis have excessive blood flow to their lungs and develop symptoms of heart failure. Surgery is also required.

Tricuspid atresia

Tricuspid atresia is absence of the tricuspid valve accompanied by an underdeveloped right ventricle. Other heart defects are present and may include atrial septal defect Atrial and Ventricular Septal Defects Atrial and ventricular septal defects are holes in the walls (septa) that separate the heart into the left and right sides. Holes can be present in the walls of the heart between the upper heart... read more Atrial and Ventricular Septal Defects , ventricular septal defect Atrial and Ventricular Septal Defects Atrial and ventricular septal defects are holes in the walls (septa) that separate the heart into the left and right sides. Holes can be present in the walls of the heart between the upper heart... read more Atrial and Ventricular Septal Defects , patent ductus arteriosus Patent Ductus Arteriosus In patent ductus arteriosus (PDA), the blood vessel connecting the pulmonary artery and the aorta (ductus arteriosus) fails to close as it usually does shortly after birth. Patent ductus arteriosus... read more Patent Ductus Arteriosus , pulmonic valve stenosis Pulmonary Valve Stenosis in Children Pulmonary valve stenosis is a narrowing of the pulmonary valve (sometimes called the pulmonic valve), which opens to allow blood to flow from the right ventricle to the lungs. The heart valve... read more , and transposition of the great arteries Transposition of the Great Arteries Transposition of the great arteries is a reversal of the normal connections of the aorta and the pulmonary artery with the heart. The aorta and pulmonary artery are reversed, which causes oxygen-poor... read more Transposition of the Great Arteries . Infants have a bluish color of the skin (cyanosis). Other symptoms depend on what other abnormalities are also present. Diagnosis is by echocardiography. Treatment is surgical repair.

More Information

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