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Recent advances in genetic testing and counseling for inherited arrhythmias

Yuka Mizusawa1

  • 1Department of Clinical and Experimental Cardiology, Academic Medical Center, University of Amsterdam, Room K2-115, Meibergdreef 9, 1105AZ Amsterdam, The Netherlands.

Journal of Arrhythmia
|October 21, 2016
PubMed

Insights

Genetic testing for inherited arrhythmias, like cardiomyopathies and ion channelopathies, is crucial for understanding sudden cardiac death risk. Next-generation sequencing advances reveal complex genetic factors, necessitating expert genetic counseling.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Inherited arrhythmias, cardiomyopathies, and cardiac ion channelopathies are leading causes of sudden cardiac death in adults.
  • Coronary heart disease (CHD) also significantly contributes to sudden cardiac death.
  • Identifying causal genes for inherited arrhythmias has advanced over the past three decades, revealing complex genetic architectures.

Approach:

  • This article reviews the indications for genetic testing in patients with inherited arrhythmias.
  • It explores the benefits and challenges associated with next-generation sequencing (NGS) in this field.
  • The role and necessity of multidisciplinary genetic counseling are discussed in light of complex genetic findings.

Key Points:

  • Next-generation sequencing technologies are instrumental in studying complex genetic traits related to arrhythmias.
  • Genetic testing provides critical insights into the predisposition to sudden cardiac death.
  • Understanding the genetic basis of arrhythmias is evolving, moving beyond simple Mendelian inheritance patterns.

Conclusions:

  • Genetic testing is essential for diagnosing and managing inherited arrhythmias.
  • The complexity of genetic information requires a multidisciplinary approach to genetic counseling.
  • Advances in sequencing technologies continue to enhance our understanding of cardiac disorders and sudden death risk.

Keywords:
ARVD/C, arrhythmogenic right ventricular dysplasia/cardiomyopathyBrS, Brugada syndromeCHD, coronary heart diseaseCPVT, catecholaminergic polymorphic ventricular tachycardiaCardiac ion channelopathiesCardiomyopathiesDCM, dilated cardiomyopathyGWAS, genome wide association studyGenetic counselingGenetic testingHCM, hypertrophic cardiomyopathyHF, heart failureICD, implantable cardioverter defibrillatorInherited arrhythmiasLQTS, long QT syndromeNGS, next generation sequencingSCD, sudden cardiac deathVA, ventricular arrhythmiaVF, ventricular fibrillationWES, whole exome sequencing

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