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Inherited heart disease

Cardiopatia familiar a Vall d'Hebron

They are inherited diseases affecting the heart and aorta. A range of diseases are included such as myocardiopathies, conduction diseases, and genetic aortopathies.

Description

Myocardiopathies are diseases of the myocardium, the muscular tissue of the heart. There are several types of myocardiopathy: dilated, hypertrophic, non-compaction, arrhythmogenic dysplasia of the right and/or left ventricle and restrictive. Imaging techniques are used for diagnosis. Medical treatment and, where necessary, fitting a resynchronisation defibrillator can avoid complications and improve patients’ quality of life.

Pharmacological provocation tests are important for diagnosis of conduction diseases such as Brugada syndrome, long QT and short QT syndrome and catecholaminergic polymorphic ventricular tachycardia. Treatment is medical and sometimes a defibrillator device may need to be fitted.

Inherited aortopathies, or diseases of the aorta, such as Marfan syndrome, Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome require  imaging techniques to diagnose them accurately.  Medical treatment and elective surgery prevent complications arising.

 

Symptoms

Symptoms of inherited heart disease are:

  • Difficulty breathing, known as “dyspnoea”.
  • Syncope  
  • Thoracic pain  
  • Sudden death  

 

Who do inherited heart diseases affect?

The prevalence of these disorders varies between 1/500 for hypertrophic myocardiopathy, 1/5,000 for conduction disorders and 1/5,000-10,000 for Marfan syndrome. Some of these diseases can therefore be said to be rare.

  

Diagnosis

Diagnosis is reached using:

  • Imaging tests (echocardiogram, MRI, CT scan)
  • Genetic testing
  • 24-Hour Holter electrocardiogram
  • Stress tests
  • Pharmacological provocation tests  
  • Electrophysiological study

 

Typical treatment

Treatment may require aortic surgery, the use of a resynchronisation automatic defibrillator implant or septal ablation.

 

Prevention

Knowing the family medical history is important for all inherited heart diseases. Family screening can detect undiagnosed cases and lead to early treatment, and in some cases, preimplantation diagnosis.

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