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.
Authors
- Vineeta Ojha (ORCID: https://orcid.org/0000-0003-4371-5615)
- Ansh Goswami
- S D Seth
- Satish Kumar (ORCID: https://orcid.org/0000-0002-1969-4431)
- Sudheer Arava (ORCID: https://orcid.org/0000-0003-0403-5908)
Institutions
- All India Institute of Medical Sciences Bhopal (IN)
- San Diego Cardiac Center (US)
- All India Institute of Medical Sciences (IN)
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
- 0.00