Abstract

The sudden unexpected death of a child is a devastating event. One of the first questions a family will ask is “Why did this happen?” In some cases, the answer may become obvious during a postmortem examination, but in up to 40% of cases, the postmortem is negative (Bagnall et al, ). In the last 1–2 decades, an improved understanding of the genetic basis of the primary arrhythmia syndromes, the major cause of sudden unexplained death in children with structurally normal hearts, has greatly enhanced our ability to make a postmortem diagnosis (Van Norstrand & Ackerman, ). Establishing an accurate genetic diagnosis can not only answer the parents' question as to why did this happen to my child, but is invaluable for cascade screening of all family members to identify other individuals harbouring the same mutation and who therefore may be at risk of sudden cardiac death. However, even after screening for all of the established genes associated with primary arrhythmia syndromes, up to two thirds of unexplained cardiac deaths will remain unsolved. Such was the case for a family of Sudanese origin with a highly malignant form of exercise‐induced arrhythmias, originally reported by Bhuiyan et al ().

Highlights

  • The sudden unexpected death of a child is a devastating event

  • In the case of the Sudanese family reported in this issue of EMBO Molecular Medicine (Devalla et al, 2016), solving the genetics was made considerably easier by the fact that the condition showed autosomal recessive inheritance and the parents were first cousins

  • Using whole-exome sequencing, Devalla and colleagues identified a homozygous loss-of-function mutation in a novel gene, called trans-2,3-enoyl-CoA reductase-like (TECRL), that was present in all affected family members

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Summary

Introduction

The sudden unexpected death of a child is a devastating event. One of the first questions a family will ask is “Why did this happen?” In some cases, the answer may become obvious during a postmortem examination, but in up to 40% of cases, the postmortem is negative (Bagnall et al, 2016). In the case of the Sudanese family reported in this issue of EMBO Molecular Medicine (Devalla et al, 2016), solving the genetics was made considerably easier by the fact that the condition showed autosomal recessive inheritance and the parents were first cousins.

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