Hereditary Heart Disease

What are hereditary heart diseases?

Hereditary or familial heart diseases are diseases that affect the heart or large arterial vessels that are affected by genetic alterations. These include cardiomyopathies and channelopathies.

The cardiomyopathies group includes dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy, restrictive cardiomyopathy, etc.

Among the channelopathies, we can highlight mainly the long QT syndrome, Brugada syndrome, short QT syndrome… It is estimated that hereditary cardiopathies affect approximately one in 400 people.

The most common heart diseases are:

  • Hypertrophic cardiomyopathy.
  • Dialated cardiomyopathy
  • Arrhythmogenic cardiomyopathy
  • Brugada Syndrome
  • Long QT syndrome
  • Margan’s disease
  • Fabry disease

Prognosis of hereditary heart diseases

Heart diseases can be asymptomatic, without causing any problems or complications. However, heart disease can cause a number of complications that may even lead to sudden death.

Symptoms of hereditary heart diseases

In many cases, inherited heart disease will be asymptomatic. In fact, it is possible for the heart disease to be present for years without showing any symptoms. However, among the main signs that a hereditary heart disease may show are:

  • Arrhythmias
  • Chest pain
  • Palpitations
  • Breathing difficulties
  • Bluish tinge to the skin, lips and/or fingernails
  • Heart failure
  • Rapid fatigue after brief exertion
  • General fatigue
  • Edema

Medical tests for inherited heart disease

In order to make a diagnosis of hereditary heart disease, one of the following tests may be performed in addition to a physical examination:

  • Electrocardiogram
  • Chest X-ray
  • Echocardiogram
  • Transesophageal echocardiogram
  • Stress test
  • Magnetic resonance imaging or computed tomography
  • Cardiac catheterization
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Finally, there are also genetic tests to detect this type of disorder.

Causes of hereditary heart disease

To date, it is not known with certainty what causes these heart diseases. Normally, these anomalies are generated during gestation, and hereditary factors are of great importance. A large number of these disorders are transmitted in dominant patterns, being repeated in several generations of the same family. Others are transmitted in different patterns, due to a combination of genes and environmental factors.

The size of the heart can respond to an alteration or disease of the heart muscle, the most common being dilated cardiomyopathy, which is a function and dilation in the left ventricle, manifesting with progressive heart failure and edema in the legs.

Hypertension also has a genetic origin in many cases, although as it is such a common pathology it is often difficult to know when it is due to heredity or to the lifestyle factors that the person practices. However, if both parents are hypertensive, the child will have twice the chance of suffering from hypertension.

Treatments for hereditary heart disease

  • Hypertrophic cardiomyopathy: the aim of treatment is to reduce and/or alleviate symptoms and prevent sudden death. Treatment will vary from case to case, but the main treatment options will be drugs, septal myectomy, septal ablation and an implantable defibrillator.
  • Dialated cardiomyopathy: depending on its severity, there are several treatment options. The first will be based on drugs, while there are also implantable devices such as pacemakers, defibrillators and ventricular assist devices. In case they do not work, a heart transplant is an option.
  • Arrhythmogenic cardiomyopathy: this is an incurable pathology but symptoms can be controlled with medication.
  • Brugada syndrome: treatment of Brugada syndrome will be based on the patient’s risk of arrhythmia. Normally, the syndrome cannot be treated with drugs, and the main treatment is the implantable cardioverter defibrillator.
  • Long QT Syndrome: there are three ways to treat it, by medication or surgery. The surgical options are denervation of the left cardiac sympathetic nerves or implantation of a cardioverter defibrillator.
  • Margan’s syndrome: its treatment is aortic root repair surgery.
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Which specialist treats hereditary heart disease?

The specialists in charge of treating these pathologies are Cardiologists and Cardiac Surgeons.