Congenital heart disease (patient information)

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 * Associate Editor(s)-In-Chief: Keri Shafer, M.D. [mailto:kshafer@bidmc.harvard.edu], Atif Mohammad, M.D., Priyamvada Singh, M.B.B.S.; Assistant Editor(s)-In-Chief: Kristin Feeney, B.S.

Overview
Congenital heart disease refers to a problem with the heart's structure and function due to abnormal heart development before birth.

What are the symptoms of Congenital heart disease?
Symptoms depend on the specific condition. While congenital heart disease is present at birth, the symptoms may not be immediately obvious for e.g. coarctation of the aorta may not cause problems for many years. Also, a small ventricular septal defect (VSD), may never cause any problems, and some people with a VSD have normal physical activity and a normal life span.

What causes Congenital heart disease?
Congenital heart disease is often divided into two types: cyanotic (blue discoloration caused by a relative lack of oxygen) and non-cyanotic. The common causes of congenital heart diseases are:

Cyanotic:
 * Tetralogy of Fallot
 * Transposition of the great vessels
 * Tricuspid atresia
 * Total anomalous pulmonary venous return
 * Truncus arteriosus
 * Hypoplastic left heart
 * Pulmonary atresia
 * Some forms of total anomalous pulmonary venous return
 * Ebstein's anomaly

Non-cyanotic:
 * Ventricular septal defect (VSD)
 * Atrial septal defect (ASD)
 * Patent ductus arteriosus (PDA)
 * Aortic stenosis
 * Pulmonic stenosis
 * Coarctation of the aorta
 * Atrioventricular canal (endocardial cushion defect)

These problems may occur alone or together. The majority of congenital heart diseases occurs as an isolated defect and is not associated with other diseases. However, they can also be a part of various genetic and chromosomal syndromes such as Down syndrome, trisomy 13, Turner syndrome, Marfan syndrome, Noonan syndrome, and DiGeorge syndrome. Drugs such as retinoic acid for acne, chemicals, alcohol, and infections (such as rubella) during pregnancy can contribute to some congenital heart problems.

Who is at highest risk?
Individuals at an increased risk for congenital heart disease include:
 * People with a family history of congenital heart disease
 * Babies born to mothers who:
 * Drink during pregnancy
 * Use recreational drugs
 * Use certain prescriptions and over-the-counter medications dangerous to fetal development
 * Fail to get proper prenatal care

When to seek urgent medical care?
Call your health care provider if you suspect that your child has a heart problem.

Diagnosis

 * The health care provider will take a careful history and perform a complete physical examination primarily focusing on the examination of heart.

Tests:
 * Ultrasound in case of pregnant women
 * Echocardiography (ultrasound of heart) for children and adults

Treatment options
Treatment depends on the specific condition. Some congenital heart diseases can be treated with medication alone, while others require one or more surgeries.

Where to find medical care for Congenital heart disease?
Directions to Hospitals Treating Congenital heart disease

What to expect (Outlook/Prognosis)?
How well a patient does depends on the specific defect.

Possible complications
Complications depend on the specific condition and treatment.

Prevention
Although the cause of many congenital heart diseases are complex, care during pregnancy can greatly influence the outcome of the developing fetus. Expectant mothers should take care to:
 * Avoid alcohol and other drugs during pregnancy. Doctors should be made aware that a woman is pregnant before prescribing any medications for her. A blood test should be done early in the pregnancy to see if the woman is immune to rubella. If the female is not immune, she must avoid any possible exposure to rubella and should be immunized immediately following delivery.
 * Proper control of Diabetes in pregnant females (as diabetes during pregnancy is a risk factor for developing congenital heart disease)
 * Some prescription, over-the-counter medications and street drugs used during pregnancy increase the risk of heart defects.
 * Genetics does appear to play a role in many diseases, and multiple family members may be affected. Talk to your health care provider about screening.
 * Receive good prenatal care. Many congenital defects can be discovered on routine ultrasound examinations performed by an obstetrician. The delivery can then be anticipated and the appropriate medical personnel (such as a pediatric cardiologist, a cardiothoracic surgeon, and a neonatologist) can be present, and ready to help as necessary. Such preparation can mean the difference between life and death for some babies.