肥厚性心肌病變最新診斷及治療

The Latest Diagnosis and Treatment of Hypertrophy Cardiomyopathy

蘇柏學(Po-Hsueh Su) ； 李文煌(Wen-Huang Lee) ； 趙庭興(Ting-Hsing Chao)

《內科學誌》 34卷2期 (2023/04) Pp. 61-71

https://doi.org/10.6314/JIMT.202304_34(2).01

摘要

肥厚性心肌症（hypertrophic cardiomyopathy）是一種遺傳性心臟病，盛行率約千分之2，男性診斷率略高。在臨床上的表現相當多樣性，包括喘、胸痛、心律不整、心臟衰竭及猝死。大部分在有症狀以前可能完全沒有症狀，通常左心室出口通道壓力差（left ventricular outflow tract pressure gradient）夠高才會有症狀，也就是阻塞性肥厚心肌症（hypertrophic obstructive cardiomyopathy）。目前主流的診斷工具包含心電圖、超音波、核磁共症、以及基因分析，需藉由綜合判斷來與其他鑑別診斷做區分。而治療方面，藥物治療包含乙型交感神經阻斷劑、Non-DHP鈣離子阻斷劑和disopyramide皆可改善症狀，目前有新藥Macavatem以及Aficamten，作用於ATPase的抑制，第三期臨床試驗顯示有效性及安全性，期待更多臨床試驗。對藥物治療反應差之阻塞性肥厚心肌症病人，目前有透過心室中隔心肌切除術（septal myectomy）以及經皮冠狀動脈心肌栓塞術（percutaneous transluminal septal myocardial ablation），研究顯示兩種侵入性治療的比較，整體死亡率並沒有統計差異，但酒精心肌栓塞術併發心律不整的機率較高、需要第二次侵入性治療的比率也較高，因此治療指引建議病人在經過藥物治療無效且無法接受心室中隔心肌切除術或切開術，可以考慮接受酒精心肌栓塞術。

關鍵字

肥厚性心肌症（Hypertrophic cardiomyopathy） ； 心肌肌球蛋白的抑制劑（cardiac myosin inhibitors, CMI） ； 心室中隔心肌切除術（Septal myectomy） ； 經皮冠狀動脈心肌栓塞術（Percutaneous transluminal septal myocardial ablation）

並列摘要

Hypertrophy cardiomyopathy (HCM) is a genetic associated cardiac disease with a prevalence rate of 0.2% in the general population. Men are more common than women. Pathophysiologic presentations of this disorder include hyperdynamic systolic contraction, myocardial ischemia, arrhythmia, and heart failure. Most of HCM patients are asymptomatic, only present symptoms when the patients have high pressure gradient of the left ventricular outflow tract (LVOT), which was featured in hypertrophic obstructive cardiomyopathy. Current diagnostic modalities include echocardiography, magnetic resonance imaging and genetic test. Pharmacologic therapy, including beta-adrenergic-blocking agents, non-DHP calcium channel blockers and disopyramide is the first step to relieve symptoms. Mavacamten, an ATPase inhibitor can reduce LVOT obstruction, improve exercise capacity, and decrease New York Heart Association functional class in patients with obstructive hypertrophic cardiomyopathy in a phase 3 trial. Aficamten, another ATPase inhibitor, is on the way to prove its safety and efficacy. When patients have a poor response to medication, they can be treated by invasive procedures such as surgical septal myectomy or percutaneous transluminal septal myocardial ablation (PTSMA). Although there was an absence of evidence to prove which procedure is better, PTSMA has a higher rate of atrial-ventricular block and recurrence. The current guideline suggests patients having symptoms in pharmacological therapy or contraindicated to surgical septal myectomy, should consider PTSMA as the treatment.