TECRL: connecting sequence to consequence for a new sudden cardiac death gene
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...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Springer Nature
2016-12-01
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| Series: | EMBO Molecular Medicine |
| Online Access: | https://doi.org/10.15252/emmm.201606967 |
| Summary: | 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 (). |
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| ISSN: | 1757-4676 1757-4684 |