Hypertrophic Cardiomyopathy

Abstrak

Hypertrophic cardiomyopathy (HCM) merupakan kelainan jantung primer yang diturunkan secara genetik dengan karakteristik penebalan
abnormal jaringan otot terutama ventrikel kiri tanpa kelainan jantung dan sistemik lainnya.Sekitar 60% kasus HCM diturunkan secara autosomal dominan berupa mutasi gen-gen protein sarkomer jantung. Diagnosis ditegakkan berdasarkan klinis, elektrokardiogram, ekokardiogram, atau cardiac magnetic resonance (CMR). Pemeriksaan genetik dapat dipertimbangkan. Terapi ß-blocker dan penyekat kanal kalsium digunakan untuk mengurangi gejala sulit bernapas, nyeri dada, penurunan aktivitas fisik, atau kelelahan. Intervensi invasif dengan ventricular septal myectomy (Morrow procedure) atau alcohol septal ablation. Evaluasi ulang secara berkala dan konseling genetik juga direkomendasikan termasuk pada pasien tanpa gejala.

Hypertrophic cardiomyopathy (HCM) is a primary cardiac disorder characterised by abnormal hypertrophy of cardiac muscle, usually of the left ventricle, in the absence of other cardiac or systemic conditions. Around 60% HCM patients have an autosomal dominant trait in cardiac sarcomere protein genes mutations. Diagnosis is established by clinical manifestation, electrocardiogram, echocardiogram, or cardiac magnetic resonance (CMR). Genetic test should be considered. Management consists of medications; ß-blocker and calcium channel-blocker are used to treat breathing difficulty, chest pain, decreased activity tolerance or fatigue. Invasive management are ventricular septal myectomy (Morrow procedure) or alcohol septal ablation. Periodic re-evaluation and genetic counseling is recommended, including in asymptomatic patients.