Alper GÜZELTAŞ, Sertaç HAYDİN, Yakup ERGÜL, Osman GÜVENÇ, Kadri KARAER

Hipertrofik kardiyomiyopati tanılı süt çocuğunda yeni tanımlanan MYBP3 mutasyonu ve impantable defibrilatör uygulaması

Hipertrofik kardiyomiyopati, en sık görülen genetik geçişli kalphastalığıdır. Kalp kasındaki sarkomerin proteini ile ilgili genlerdeki mutasyonlar sonucu ortaya çıkar. Genelde asimetrik olan hipertrofi meydana gelir. Semptomatik olan, önemli sol ventrikül çıkım yolu darlığıolan hastalarda cerrahi tedavi, ani kardiyak ölüm riski olan hastalardaise kardiyak defibrilatör implante edilmelidir. Bu yazıda, ailesindegenç yaşta ani ölüm öyküsü olan ve ciddi sol ventrikül çıkım yolu darlığı nedeni ile aynı seansta septal miyektomi ve implantable kardiyakdefibrilatör uygulaması yapılan, MYBPC3 geninde delesyon-insersiyon tarzında çerçeve kaymasına neden olan yeni mutasyon saptananhipertrofik kardiyomiyopatili süt çocuğu olgu sunuldu.

Implantation of cardiac defibrillator in an infant withhypertrophic cardiomyopathy and newly identifiedMYBP3 mutation

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.

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