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01.05.2009 | Original Article

Contribution of Long-QT Syndrome Genetic Variants in Sudden Infant Death Syndrome

verfasst von: Gilles Millat, Béatrice Kugener, Philippe Chevalier, Mohamed Chahine, Hai Huang, Daniel Malicier, Claire Rodriguez-Lafrasse, Robert Rousson

Erschienen in: Pediatric Cardiology | Ausgabe 4/2009

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Abstract

A cohort of 52 French unrelated infant cases who died unexpectedly before they reached 12 months of age was blindly investigated to better quantify the contribution of long-QT syndrome (LQTS) genetic variants in French cases of sudden infant death syndrome (SIDS). After a standardized autopsy protocol, a blinded molecular screening of the KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes was performed on each case. These postmortem investigations enabled us to reclassify 18 as non-SIDS cases, 32 as SIDS cases, and 2 as suspected SIDS cases. Among the 18 non-SIDS cases, no LQTS mutation was identified. In contrast, our results led to a possible explanation for the death of at least three infants in the SIDS cohort. Half of the LQTS gene variants identified were located on the SCN5A gene. This study confirms that LQTS mutations may represent one of the leading genetic causes of SIDS. If autopsy fails to provide an explanation for an unexplained infant death, medicolegal investigation should be extended with a molecular screening of major LQTS genes. Identification of more LQTS mutations in SIDS cases could provide new insights into the pathophysiology of SIDS and, consequently, reduce the number of unexplained sudden infant deaths.

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Titel: Contribution of Long-QT Syndrome Genetic Variants in Sudden Infant Death Syndrome
verfasst von: Gilles Millat
Béatrice Kugener
Philippe Chevalier
Mohamed Chahine
Hai Huang
Daniel Malicier
Claire Rodriguez-Lafrasse
Robert Rousson
Publikationsdatum: 01.05.2009
Verlag: Springer-Verlag
Erschienen in: Pediatric Cardiology / Ausgabe 4/2009
Print ISSN: 0172-0643
Elektronische ISSN: 1432-1971
DOI: https://doi.org/10.1007/s00246-009-9417-2

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Contribution of Long-QT Syndrome Genetic Variants in Sudden Infant Death Syndrome

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