Case report: Severe arrhythmogenic cardiomyopathy in a young girl with compound heterozygous DSG2 and MYBPC3 variants with a 6-year follow-up
This case underscores the genetic heterogeneity and phenotypic variability in inherited cardiomyopathies. It emphasizes the importance of comprehensive genetic testing and close monitoring of affected individuals and their families.
Authors
- Yoshinaga Okugawa (ORCID: https://orcid.org/0000-0002-0417-5559)
- Ikuyo Mochiki (ORCID: https://orcid.org/0000-0001-6361-5641)
- Chika Kasai
- Kaoru Dohi (ORCID: https://orcid.org/0000-0002-5078-6326)
- Kaname Nakatani (ORCID: https://orcid.org/0000-0001-6709-541X)
- Takahito Kitajima (ORCID: https://orcid.org/0000-0003-3760-8514)
- Hirofumi Sawada
- Yoshihide Mitani (ORCID: https://orcid.org/0000-0002-6038-8161)
- Takumi Fujiwara
- Seiko Ohno (ORCID: https://orcid.org/0000-0003-1209-8896)
- Ryuji Okamoto (ORCID: https://orcid.org/0000-0002-8067-398X)
- Noriko Yodoya
- Sachiko Wakita (ORCID: https://orcid.org/0000-0002-2465-0759)
- Masahiro Hirayama (ORCID: https://orcid.org/0000-0002-6850-2782)
- Hiroshi Imai (ORCID: https://orcid.org/0000-0003-0738-3633)
- Ryotaro Hashizume (ORCID: https://orcid.org/0000-0002-9237-029X)
- Hiroyuki Ohashi (ORCID: https://orcid.org/0000-0001-6542-7222)
- Koichi Kato (ORCID: https://orcid.org/0009-0004-9622-0645)
Institutions
- Shiga University of Medical Science (JP)
- Mie University (JP)
- National Cerebral and Cardiovascular Center (JP)
- Mie University Hospital (JP)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-03-06
- DOI
- https://doi.org/10.3389/fgene.2025.1545561
- Citations
- 1
- Primary Topic
- Cardiovascular Effects of Exercise
- Type
- article
- Field-Weighted Citation Impact
- 1.39