Genetic Heart Disorders

Heart disease is often a family matter.

There are certain features of a family history that may be signs of a genetic heart disorder. Some of these include:

  • Sudden cardiac death, unexplained death at a young age, or death by an unexplained accident or drowning
  • Heart failure at a young age (under 50). Signs of heart failure include shortness of breath, fatigue, weakness, difficulty with exercise and “asthma” that doesn’t improve with an inhaler
  • Palpitations or an abnormal heart rhythm at a young age
  • Fainting, black-outs, or seizures that couldn’t be treated with typical seizure medications
  • More than one relative with the same type of heart disease

See your doctor for screening if your family history contains any of the above conditions.

Some heart conditions are known to have a genetic link. They include:

Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cause for sudden cardiac arrest. In ARVD, there is progressive replacement of the normal tissue of the right ventricle by fat and fibrous tissue (scar tissue). This may lead to abnormal electrical activity of the right ventricle and potentially fatal arrhythmias. ARVD may be diagnosed by characteristic abnormalities of the electrocardiogram and by sophisticated imaging tests of the heart.

Up to 80% of individuals with ARVD present with syncope or sudden cardiac death. The remainder frequently present with palpitations or other symptoms due to right ventricular outflow tract tachycardia (a type of monomorphic ventricular tachycardia). Symptoms are usually exercise-related.

Brugada Syndrome

Brugada Syndrome (BS) is a genetic cause of sudden cardiac arrest. Ventricular fibrillation, a lethal arrhythmia, occurs in the lower chambers of the heart, which prevent the ventricles from contracting effectively. Without prompt defibrillation (electrical shock), death may ensue within a few minutes. Brugada syndrome may be diagnosed before such an event through electrocardiogram testing, which will show characteristic abnormalities of BS.

Familial Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy causing heart failure is a progressive condition in which the one or both of the heart’s ventricle muscles becomes weakened after injury and gradually loses its ability to pump enough blood to supply the body’s needs. Many people are unaware of the diagnosis because the symptoms are often mistaken for aging. Heart failure from familial dilated cardiomyopathy starts slowly and gets worse over time. Though most cases of dilated cardiomyopathy occur in a sporadic pattern, dilated cardiomyopathy may be inherited and affect multiple family members.