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Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death

1
Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Salt, Spain
2
Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain
3
Medical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain
4
Cardiology Service, Hospital Josep Trueta, 17003 Girona, Spain
*
Authors to whom correspondence should be addressed.
Received: 24 November 2017 / Revised: 19 December 2017 / Accepted: 22 December 2017 / Published: 26 December 2017
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Abstract

Sudden cardiac death is defined as an unexpected decease of cardiac origin. In individuals under 35 years old, most of these deaths are due to familial arrhythmogenic syndromes of genetic origin, also known as channelopathies. These familial cardiac syndromes commonly follow an autosomal dominant pattern of inheritance. Diagnosis, however, can be difficult, mainly due to incomplete penetrance and variable expressivity, which are hallmarks in these syndromes. The clinical manifestation of these diseases can range from asymptomatic to syncope but sudden death can sometimes be the first symptom of disease. Early identification of at-risk individuals is crucial to prevent a lethal episode. In this review, we will focus on the genetic basis of channelopathies and the effect of genetic and non-genetic modifiers on their phenotypes. View Full-Text
Keywords: sudden cardiac death; channelopathies; genetics; incomplete penetrance; variable expressivity sudden cardiac death; channelopathies; genetics; incomplete penetrance; variable expressivity
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).
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Coll, M.; Pérez-Serra, A.; Mates, J.; Del Olmo, B.; Puigmulé, M.; Fernandez-Falgueras, A.; Iglesias, A.; Picó, F.; Lopez, L.; Brugada, R.; Campuzano, O. Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death. Biology 2018, 7, 3.

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