Hypertrophic Cardiomyopathy

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 protein sarkomer jantung. Diagnosis berdasarkan klinis, elektrokardiogram, ekokardiogram, cardiac magnetic resonance (CMR), dan pemeriksaan genetik. Terapi ß-blocker dan penyekat kanal kalsium untuk mengurangi gejala sesak nafas, nyeri dada, penurungan aktivitas fisik. Intervensi invasif dengan ventricular septal myectomy (Morrow procedure) atau alcohol septal ablation. Evaluasi berkala dan konseling genetik juga direkomendasikan termasuk pada pasien tanpa gejala.Hypertrophic cardiomyopathy (HCM) is a primary cardiac disorder characterised by hypertrophy, usually of the left ventricle, in the absence of other 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