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Genetic Etiology and Evaluation of Sudden Cardiac Death

  • Cardiovascular Genomics (C O'Donnell, Section Editor)
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Abstract

A wide range of inherited syndromes can result in ventricular arrhythmias and sudden cardiac death (SCD). The natural histories of inherited arrhythmia syndromes are highly variable and current risk stratification techniques are limited. Thus, the management of these conditions can be difficult and often involves a combination of risk assessment, lifestyle modification, cardiac interventions, counselling, and family screening. Recent advances in high throughput sequencing have enabled routine testing in patients with a high clinical index of suspicion for an inherited arrhythmia condition, and cascade screening in relatives of mutation carriers. Given the complexity in screening and data interpretation that has been introduced by recent genomic advances, individuals with inherited arrhythmia syndromes are encouraged to seek care at specialized centers with cardiovascular genetics expertise. In this review, we discuss the etiologies of SCD syndromes and discuss strategies for the evaluation of patients at risk for SCD with a focus on the role of genetic testing and family screening.

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Elena Dolmatova declares that she has no conflict of interest.

Saagar Mahida declares that he has no conflict of interest.

Patrick T. Ellinor declares that he has no conflict of interest.

Steven A. Lubitz declares that he has no conflict of interest.

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  1. Cardiovascular Research Center, Massachusetts General Hospital, Charlestown, MA, USA

    Elena Dolmatova, Patrick T. Ellinor & Steven A. Lubitz

  2. Leeds General Infirmary, Great George Street, Leeds, UK, LS1 3EX

    Saagar Mahida

  3. Cardiac Arrhythmia Service, Massachusetts General Hospital, 55 Fruit Street, Boston, MA, 02114, USA

    Patrick T. Ellinor & Steven A. Lubitz

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  1. Elena Dolmatova
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  2. Saagar Mahida
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Dolmatova, E., Mahida, S., Ellinor, P.T. et al. Genetic Etiology and Evaluation of Sudden Cardiac Death. Curr Cardiol Rep 15, 389 (2013). https://doi.org/10.1007/s11886-013-0389-8

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