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Implantation of cardiac defibrillator in an infant with hypertrophic cardiomyopathy and newly identified MYBP3 mutation
- Source :
- Turkish Archives of Pediatrics/Türk Pediatri Arşivi
- Publication Year :
- 2020
- Publisher :
- Kare Publishing, 2020.
-
Abstract
- Hypertrophic cardiomyopathy has the highest incidence rate among genetically inherited cardiac diseases. It develops as a result of mutations in genes in related to the sarcomere protein in cardiac muscle. Generally, this results in asymmetrical hypertrophy. Patients who are symptomatic and have a significantly narrow left ventricular undergo should receive surgical treatment, whereas patients with a sudden cardiac death risk should receive treatment with an implantable cardiac defibrillator. This paper presents an infant with hypertrophic cardiomyopathy who was recently identified as having a mutation that resulted in a deletion-insertion type framework shift in the gene MYBPC3, who had family history of sudden death at a young age, and received myectomy and treatment with an implantable cardiac defibrillator in the same session due to a severely narrowed left ventricular outflow tract.
Details
- Language :
- English
- ISSN :
- 13086278 and 13060015
- Volume :
- 55
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Turkish Archives of Pediatrics/Türk Pediatri Arşivi
- Accession number :
- edsair.pmid..........5022ba0740b68115b17cb9eaca561eac