Atypical Holt-Oram syndrome: Early-onset sick sinus syndrome in a Japanese family with a novel TBX5 mutation, Q469*
Genetic testing for the <i>TBX5</i> gene, the causal gene for Holt-Oram syndrome, should be considered in patients with a high prevalence of early-onset familial sick sinus syndrome and history of congenital heart disease. Even in atypical cases without obvious abnormalities of the upper extremities, this could enhance the diagnosis of Holt-Oram syndrome and guide individualized management strategies.
Authors
- Minoru Horie (ORCID: https://orcid.org/0000-0002-9029-2339)
- Asuka Nishimura
- Y. Nomura (ORCID: https://orcid.org/0000-0002-9788-2809)
- Masafumi Harada (ORCID: https://orcid.org/0000-0002-2345-9557)
- Seiko Ohno (ORCID: https://orcid.org/0000-0003-1209-8896)
- Hideo Izawa (ORCID: https://orcid.org/0000-0003-2136-2855)
- Yuji Motoike
- Masayuki Koshikawa
- Eiichi Watanabe (ORCID: https://orcid.org/0000-0002-2375-2323)
- Naomasa Makita (ORCID: https://orcid.org/0000-0002-1807-672X)
- Taisuke Ishikawa (ORCID: https://orcid.org/0000-0001-8195-4700)
- Yoshihiro Sobue
- Hiroyuki Naruse (ORCID: https://orcid.org/0000-0003-1291-8743)
Institutions
- Fujita Health University (JP)
- Shiga University of Medical Science (JP)
- National Cerebral and Cardiovascular Center (JP)
- Kagoshima University Hospital (JP)
- Keiyukai Sapporo Hospital (JP)
- Fujita Health University Hospital (JP)
- Toujinkai Hospital (JP)
- Fujita Health University Okazaki Medical Center
- Fujita Health University Bantane Hospital
Publication Details
- Journal
- Journal of Cardiology Cases
- Published
- 2025-04-03
- DOI
- https://doi.org/10.1016/j.jccase.2025.03.003
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Agency for Medical Research and Development
- Japan Society for the Promotion of Science