Implantation of cardiac defibrillator in an infant with hypertrophic cardiomyopathy and newly identified mybp3 mutation Hipertrofik kardiyomiyopati tanılı süt çocuğunda yeni tanımlanan mybp3 mutasyonu ve impantable defibrilatör uygulaması
Turkish Archives of Pediatrics, cilt.55, sa.3, ss.304-308, 2020 (ESCI, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 55 Sayı: 3
- Basım Tarihi: 2020
- Doi Numarası: 10.14744/turkpediatriars.2018.35556
- Dergi Adı: Turkish Archives of Pediatrics
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.304-308
- Anahtar Kelimeler: Hypertrophic cardiomyopathy, implantable cardiacdefibrillator, MYBPC3 gene, new mutation, septal myectomy
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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 cardiom-yopathy 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 mye-ctomy and treatment with an implantable cardiac defibrillator in the same session due to a severely narrowed left ventricular outflow tract.