Other Birth Defects of the Heart

ByLee B. Beerman, MD, Children's Hospital of Pittsburgh of the University of Pittsburgh School of Medicine
Reviewed/Revised Apr 2023
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Many other heart defects affect children. (See also Overview of Heart Defects.)

Most of these defects are rare. Some of these include

  • Pulmonary atresia with an intact ventricular septum

  • Single ventricle defects

  • Tricuspid atresia

Symptoms of these defects vary, depending on the specific defect and its severity. All of these defects may cause a bluish color to the skin (cyanosis) or an abnormal heart rhythm. Doctors often suspect a heart defect when they hear a heart murmur during an examination with a stethoscope, but usually they do echocardiography (ultrasonography of the heart) to confirm the existence of a defect.

Surgical repair of the defect is usually needed.

Pulmonary Atresia With Intact Septum

In pulmonary atresia, the pulmonic (pulmonary) valve does not form properly, 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 defects include any complex heart defect in which there is only one functional ventricle. Symptoms depend on the exact abnormality and whether pulmonic valve stenosis is also present. Most infants have a bluish color of the skin (cyanosis) because their blood is not receiving enough oxygen. 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 (for example, rapid breathing, poor feeding, easy tiring, excessive sweating). Surgery is required to correct the heart abnormalities. Usually, multiple surgeries are required over several years.

Tricuspid Atresia

Infants with tricuspid atresia are born without a tricuspid valve and have an underdeveloped right ventricle. Other heart defects may be present, including atrial septal defect, ventricular septal defect, patent ductus arteriosus, pulmonic valve stenosis, and transposition of the great arteries. Infants have a bluish color of the skin (cyanosis). Other symptoms depend on what other defects are also present. Diagnosis is by echocardiography. Treatment is surgical repair.

More Information

The following English-language resources may be useful. Please note that THE MANUAL is not responsible for the content of these resources.

  1. American Heart Association: Common Heart Defects: Provides an overview of common birth defects of the heart for parents and caregivers

  2. American Heart Association: Infective Endocarditis: Provides an overview of infective endocarditis, including summarizing antibiotic use, for parents and caregivers

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