What Are the Genetic Causes of Hereditary Heart Diseases?

What Are the Genetic Causes of Hereditary Heart Diseases?

Hereditary heart diseases; are caused by an error (mutation) in one or more genes that affect the muscle and vascular structure of the heart and the rhythm (conducting) system. This error may be inherited from one of the parents or may have occurred in the patient for the first time. However, this error can be transferred to the next generation (from the patient to their children).

Symptoms in hereditary heart diseases occur because the blood circulation is not adequately provided. However, some of the patients may not have any complaints.


  • Dizziness
  • Fainting, feeling faint
  • Flutter
  • Difficulty breathing
  • Sudden death

Hereditary cardiovascular diseases

  • Cardiomyopathy
  • Hypertrophic cardiomyopathy
  • Restrictive cardiomyopathy
  • Rasopathy syndromes
  • Muscular dystrophies
  • Arrhythmia
  • Brugada syndrome
  • Long QT syndrome
  • Catecholaminergic polymorphic ventricular tachycardia
  • Progressive heart conduction defects
  • Vascular diseases
  • Familial Thoracic aortic aneurysm
  • Loeys-Dietz syndrome
  • Marfan syndrome
  • Lipid disorders
  • Familial hypercholesterolemia

When are hereditary heart diseases suspected?

  • If someone in your family has an inherited heart disease
  • If you have a family history of heart attack or premature death
  • If a family death is thought to be due to a difficult to explain or faulty gene
  • If the patient had angina or heart attack at a young age


In EKG and ECHO: When findings such as rhythm disturbance, enlargement affecting the heart muscle, enlargement of the vessels (aneurysm) are detected, genetic tests are helpful in diagnosis. Especially if a familial (inherited) cardiovascular disease is suspected, the patient should definitely be evaluated by a medical geneticist and receive genetic counseling.

Benefits of Genetic Testing

  • The diagnosis becomes clear in cases with suspected hereditary heart disease. Thus, it directs the patient's lifestyle and treatment.
  • Family members at risk are identified and provide diagnosis.
  • Provides options for family planning such as pre-IVF diagnosis.