Paratz Elizabeth D, Stub Dion, Sutherland Nigel, Gutman Sarah, La Gerche Andre, Mariani Justin, Taylor Andrew, Ellims Andris
Baker Heart and Diabetes Institute, 75 Commercial Rd, Prahran, VIC 3181, Australia; Alfred Hospital, 55 Commercial Rd, Prahran, VIC 3181, Australia; St Vincent's Hospital Melbourne, 41 Victoria Pde, Fitzroy, VIC 3065, Australia; Ambulance Victoria, 375 Manningham Rd, Doncaster, VIC 3108, Australia.
Baker Heart and Diabetes Institute, 75 Commercial Rd, Prahran, VIC 3181, Australia; Alfred Hospital, 55 Commercial Rd, Prahran, VIC 3181, Australia; Ambulance Victoria, 375 Manningham Rd, Doncaster, VIC 3108, Australia; Department of Public Health and Preventive Medicine, Monash University, 553 St Kilda Rd, Melbourne 3004, Australia.
Int J Cardiol. 2024 Jan 15;395:131416. doi: 10.1016/j.ijcard.2023.131416. Epub 2023 Oct 4.
Hypertrophic cardiomyopathy (HCM) is the commonest genetic cardiomyopathy and may result in sudden cardiac death (SCD). Clinical risk stratification scores are utilised to estimate SCD risk and determine potential utility of a primary prevention implantable cardioverter defibrillator (ICD).
Patients with a confirmed diagnosis of HCM from a quaternary HCM service were defined according to clinical characteristics, genetic profiles and cardiac imaging results. European Risk-SCD score and American Heart Association / American College of Cardiology (AHA/ACC) Score were calculated. The primary outcome was cardiac arrest.
380 patients with HCM were followed up for a median of 6.4 years. 18 patients (4.7%) experienced cardiac arrest, with predictive factors being younger age (37.2 vs 54.4 years, p = 0.0041), unexplained syncope (33.3% vs 9.4%, p = 0.007), non-sustained ventricular tachycardia (50.0% vs 12.7%, p < 0.0001), increased septal thickness (21.5 vs 17.5 mm, p = 0.0003), and presence of a sarcomeric gene mutation (100.0% vs 65.8%, p = 0.038). The Risk-SCD and AHA/ACC scores had poor agreement (kappa coefficient 0.38). Risk-SCD score had poor sensitivity (44.4%), classifying 55.6% of patients with cardiac arrest as low-risk but was highly specific (93.7%). AHA/ACC risk score did not discriminate between groups significantly. 20 patients (5.3%) died, with most >60-year-olds having a non-cardiac cause of death (p = 0.0223).
This study highlights limited (38%) agreement between the Risk-SCD and AHA/ACC scores. Most cardiac arrests occurred in ostensibly low or medium-risk patients under both scores. Appropriate ICD selection remains challenging. Incorporating newer risk markers such as HCM genotyping and myocardial fibrosis quantification by cardiac MRI may assist future risk refinement.
肥厚型心肌病（HCM）是最常见的遗传性心肌病，可能导致心源性猝死（SCD）。临床风险分层评分用于评估SCD风险，并确定一级预防植入式心脏复律除颤器（ICD）的潜在效用。
根据临床特征、基因图谱和心脏成像结果，对来自四级HCM服务机构确诊为HCM的患者进行定义。计算欧洲SCD风险评分和美国心脏协会/美国心脏病学会（AHA/ACC）评分。主要结局为心脏骤停。
380例HCM患者中位随访6.4年。18例患者（4.7%）发生心脏骤停，预测因素为年龄较小（37.2岁对54.4岁，p = 0.0041）、不明原因晕厥（33.3%对9.4%，p = 0.007）、非持续性室性心动过速（50.0%对12.7%，p < 0.0001）、室间隔厚度增加（21.5对17.5mm，p = 0.0003）以及存在肌节基因突变（100.0%对65.8%，p = 0.038）。SCD风险评分与AHA/ACC评分一致性较差（kappa系数0.38）。SCD风险评分敏感性较差（44.4%），将55.6%的心脏骤停患者分类为低风险，但特异性较高（93.7%）。AHA/ACC风险评分在各组之间无显著差异。20例患者（5.3%）死亡，大多数60岁以上患者死于非心脏原因（p = 0.0223）。
本研究强调SCD风险评分与AHA/ACC评分之间的一致性有限（38%）。大多数心脏骤停发生在两种评分表面上为低风险或中等风险的患者中。合适的ICD选择仍然具有挑战性。纳入更新的风险标志物，如HCM基因分型和通过心脏MRI定量心肌纤维化，可能有助于未来风险的细化。
