Congenital Heart Defects

A congenital heart defect (CHD) is a structural problem of the heart that develops during pregnancy. About one out of 100 babies is born with a congenital heart defect. There are many types of congenital heart defects, ranging from simple to complex. Most are diagnosed and treated early in infancy.

Symptoms of congenital heart defects in infants and children include:

• Cyanosis (a bluish tint to the skin, fingernails, and lips)
• Respiratory distress
• Poor feeding
• Poor weight gain
• Recurrent lung infections
• Less ability to exercise or play actively compared to other children

Many congenital heart diseases in babies have a genetic cause. Some known associations include:

• Chromosome abnormalities, such as Down syndrome, trisomy 18 and trisomy 13, and Turner syndrome
• Microdeletion or microduplication syndromes, such as DiGeorge syndrome
• Single gene defects
• Environmental factors

If you have a congenital heart defect, we recommend you speak with a genetic counselor or genetic specialist before becoming pregnant.

In some cases, congenital heart defects are discovered before a baby is born during a fetal ultrasound. Some types of complex congenital heart defects are apparent shortly after birth. Less severe defects may not be found until the child is older. Some congenital heart defects are discovered after the doctor hears a heart murmur.

Depending on the child’s CHD symptoms or heart murmur, the doctor may order one or more of the following tests to diagnose a congenital heart defect:

• Electrocardiogram
• Echocardiogram (cardiac ultrasound)
• Chest X-ray
• Cardiac magnetic resonance imaging (MRI) or computed tomography (CT)
• Cardiac catheterization
• Blood test for genetic analysis

If your child has been diagnosed with a chromosomal or other genetic abnormality, genetic counseling is helpful to determine the risk of heart defects for other children you may have in the future.

Treatment is based on the specific type of congenital heart defect your child has and the severity of the defect. Some mild heart defects don't need any treatment. Others can be treated with medications, interventional procedures, or surgery.

In some cases, if a congenital heart defect is found prenatally, it’s possible to perform a procedure on the child before they are born.

The outlook for congenital heart defects is increasingly positive, even for the most complex problems. For more details about your child’s heart defect, search for the specific condition or visit our Benderson Family Heart Center page.

The Benderson Family Heart Center specializes in treating the entire spectrum of congenital heart defects before and after birth, and through adulthood in our Boston Adult Congenital Heart (BACH) and Pulmonary Hypertension Program.

Some of the most common CHDs we treat include:

• Atrial septal defect (ASD)
• Atrioventricular canal defect
• Ventricular septal defect (VSD)
• Transposition of the great arteries (TGA)
• Coarctation of the aorta
• Tetralogy of Fallot

See a complete list of all the congenital heart defects we care for.