What is a Hereditary Heart Disease?

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Hereditary or familial heart diseases are all heart and aortic diseases that may affect more than one member of the same family. They mainly include 3 major groups: channelopathies, cardiomyopathies and aortopathies. Most are rare diseases, with the exception of hypertrophic cardiomyopathy, which affects 1 in 500 people.

Familial Heart Disease Groups

  • Channelopathies: Diseases that affect the electrical activity of the heart and predispose the patient to malignant arrhythmias. These include: 
    • Long QT syndrome 

    • Short QT syndrome 

    • Brugada syndrome 

    • Catecholaminergic polymorphic ventricular tachycardia 

    • Early repolarisation syndrome 

    • Idiopathic ventricular fibrillation 

    • Family history of sudden death 

    • Familial atrial fibrillation 

  • Cardiomyopathy: diseases that affect the structure and function of the heart muscle. 
    • Arrhythmogenic dysplasia 

    • Hypertrophic cardiomyopathy 

    • Noncompaction cardiomyopathy 

    • Familial dilated cardiomyopathy 

    • Familial restrictive cardiomyopathy 

    • Cardiac amyloidosis 

    • Other cardiomyopathies 

  • Aortopathies: diseases that affect the wall of the aorta artery. 
    • Marfan syndrome 

    • Vascular Ehlers–Danlos syndrome 

    • Loeys-Dietz syndrome 

Most of them are rare diseases (prevalence less than one case per 2,500 inhabitants), with the exception of hypertrophic cardiomyopathy (prevalence 1/500), and can occur at all stages of life, from the period fetus to adulthood.

There is a fourth group of patients that is evaluated in the Family Heart Disease Unit and these are the cases of Sudden Unexplained Death (whether in infants, children or young adults), in which an autopsy is performed without a clear cause of death. In this group, the genetic study of the deceased and the clinical-genetic study of their relatives is essential to rule out hereditary disease.

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