Unexplained drownings and the cardiac channelopathies: a molecular autopsy series.

Tester, David J.; Medeiros Domingo, Argelia; Will, Melissa L.; Ackerman, Michael J. (2011). Unexplained drownings and the cardiac channelopathies: a molecular autopsy series. Mayo Clinic proceedings, 86(10), pp. 941-947. Elsevier 10.4065/mcp.2011.0373

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OBJECTIVE

To determine the prevalence and spectrum of mutations associated with long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT) in a seemingly unexplained drowning cohort.

PATIENTS AND METHODS

From September 1, 1998, through October 31, 2010, 35 unexplained drowning victims (23 male and 12 female; mean ± SD age, 17±12 years [range, 4-69 years]) were referred for a cardiac channel molecular autopsy. Of these, 28 (20 male and 8 female) drowned while swimming, and 7 (3 male and 4 female) were bathtub submersions. Polymerase chain reaction, denaturing high-performance liquid chromatography, and DNA sequencing were used for a comprehensive mutational analysis of the 3 major LQTS-susceptibility genes (KCNQ1, KCNH2, and SCN5A), and a targeted analysis of the CPVT1-associated, RYR2-encoded cardiac ryanodine receptor was conducted.

RESULTS

Of the 28 victims of swimming-related drowning, 8 (28.6%) were mutation positive, including 2 with KCNQ1 mutations (L273F, AAPdel71-73 plus V524G) and 6 with RYR2 mutations (R414C, I419F, R1013Q, V2321A, R2401H, and V2475F). None of the bathtub victims were mutation positive. Of the 28 victims who drowned while swimming, women were more likely to be mutation positive than men (5/8 [62.5%] vs 3/20 [15%]; P=.02). Although none of the mutation-positive, swimming-related drowning victims had a premortem diagnosis of LQTS or CPVT, a family history of cardiac arrest, family history of prior drowning, or QT prolongation was present in 50%.

CONCLUSION

Nearly 30% of the victims of swimming-related drowning hosted a cardiac channel mutation. Genetic testing should be considered in the postmortem evaluation of an unexplained drowning, especially if a positive personal or family history is elicited.

Item Type:	Journal Article (Original Article)
Division/Institute:	04 Faculty of Medicine > Department of Cardiovascular Disorders (DHGE) > Clinic of Cardiology
UniBE Contributor:	Medeiros Domingo, Argelia
Subjects:	600 Technology > 610 Medicine & health
ISSN:	0025-6196
Publisher:	Elsevier
Language:	English
Submitter:	Argelia Medeiros Domingo
Date Deposited:	20 Jun 2014 11:17
Last Modified:	05 Dec 2022 14:28
Publisher DOI:	10.4065/mcp.2011.0373
PubMed ID:	21964171
URI:	https://boris.unibe.ch/id/eprint/42271