Triple Gene Variant Linked to Severe Hypertrophic Cardiomyopathy: A Case Report.

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy, caused mainly by variations in sarcomere-related genes like MYH7, MYBPC3, and TTN. Its clinical presentation ranges from asymptomatic to sudden cardiac death, with severity influenced by the number and type of genetic variants. Most variants are single, but multiple variants can occur, increasing severity. A 38-year-old man with HCM, presenting with heart failure and a family history of sudden death, was found to have triple gene variants in TNNI3, TMEM43, and MYBPC3. This case is noteworthy for early onset, multiple variants, and family history.

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Publication Details

Journal
IHJ Cardiovascular Reports
Published
2026-05-01
DOI
https://doi.org/10.1016/j.ihjcvr.2026.05.002
Primary Topic
Cardiomyopathy and Myosin Studies
Type
article
Field-Weighted Citation Impact
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article

Triple Gene Variant Linked to Severe Hypertrophic Cardiomyopathy: A Case Report.

Vineeta Ojha, Ansh Goswami, S D Seth, Satish Kumar et al.
IHJ Cardiovascular Reports
Cardiomyopathy and Myosin Studies
article

Triple Gene Variant Linked to Severe Hypertrophic Cardiomyopathy: A Case Report.

Vineeta Ojha, Ansh Goswami, S D Seth, Satish Kumar, Sudheer Arava
article en

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy, caused mainly by variations in sarcomere-related genes like MYH7, MYBPC3, and TTN. Its clinical presentation ranges from asymptomatic to sudden cardiac death, with severity influenced by the number and type of genetic variants. Most variants are single, but multiple variants can occur, increasing severity. A 38-year-old man with HCM, presenting with heart failure and a family history of sudden death, was found to have triple gene variants in TNNI3, TMEM43, and MYBPC3. This case is noteworthy for early onset, multiple variants, and family history.

IHJ Cardiovascular Reports
All India Institute of Medical Sciences Bhopal (IN), San Diego Cardiac Center (US), All India Institute of Medical Sciences (IN)
Good health and well-being
Openalex Percentile: Top 6%
Cardiomyopathy and Myosin Studies
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