Key result
Postmortem genetic analysis of a 36-year-old man who died suddenly revealed an Arg162Gln substitution in the cardiac troponin I gene (TNNI3), confirming hypertrophic cardiomyopathy.
Population
36-year-old man who collapsed and died while jogging, with mild features of hypertrophic cardiomyopathy and…
Design
Case_report
Authors
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May inform family surveillance after sudden death; leaves open larger validation of TNNI3 variants.
Case Report (n=1)
Postmortem genetic testing in cases of sudden death can identify rare mutations such as TNNI3 in hypertrophic cardiomyopathy, enabling heightened surveillance for surviving family members.
Snyder et al. (2015) conducted a case report in Hypertrophic cardiomyopathy (n=1). Genetic testing (TNNI3 gene mutational analysis) was evaluated on Identification of genetic mutation. Postmortem genetic analysis of a 36-year-old man who died suddenly revealed an Arg162Gln substitution in the cardiac troponin I gene (TNNI3), confirming hypertrophic cardiomyopathy.
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