Identification of recurrent MYH7 variant hypertrophic cardiomyopathy patients in Korea: a case series
Our findings provide clinical and population-level evidence supporting the pathogenicity of the p.Tyr134His variant in <i>MYH7</i>, potentially representing a rare Korean-specific founder mutation. However, as functional studies have not yet been performed, the pathogenic mechanism remains unconfirmed. Therefore, while current evidence remains of uncertain significance, further experimental validation may provide additional evidence to reclassify the variant as likely pathogenic.
Authors
- Jang-Won Son
- Sun Hwa Lee
- Go Hun Seo
- YiSik Kim
- Won Chan Jeong (ORCID: https://orcid.org/0009-0008-1931-5957)
- Seung Woo Ryu (ORCID: https://orcid.org/0000-0001-6155-0063)
- Soo Yong Lee (ORCID: https://orcid.org/0000-0002-1140-0910)
- Geu-Ru Hong
- Ji-Won Hwang (ORCID: https://orcid.org/0000-0002-9994-4209)
- Kyu-Yong Ko
- Sang Chol Lee
- Kyung-Hee Kim
- Seokhui Jang
Institutions
- Yonsei University (KR)
- Samsung Medical Center (KR)
- Inje University Ilsan Paik Hospital (KR)
- Sejong Institute (KR)
- Sejong General Hospital (KR)
- Gangnam Severance Hospital (KR)
- Pusan National University Yangsan Hospital (KR)
- Yeungnam University Medical Center (KR)
- Jeonbuk National University (KR)
Publication Details
- Journal
- Cardiovascular Diagnosis and Therapy
- Published
- 2025-12-01
- DOI
- https://doi.org/10.21037/cdt-2025-188
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00