Hartford HealthCare, Heart and Vascular Institute Hartford CT.
Department of Medicine University of Connecticut Farmington CT.
J Am Heart Assoc. 2022 May 3;11(9):e024501. doi: 10.1161/JAHA.121.024501. Epub 2022 Apr 26.
Background Inherited cardiomyopathies (ICs) are relatively rare. General cardiologists have little experience in diagnosing and managing these conditions. International societies have recognized the need for dedicated IC clinics. However, only few reports on such clinics are available. Methods and Results Clinical data of patients referred to our clinic during its first 2 years for a personal or family history of (possible) IC were analyzed. A total of 207 patients from 196 families were seen; 13% of probands had their diagnosis changed. Diagnosis was most commonly altered in patients referred for possible arrhythmogenic dominant right ventricular cardiomyopathy (62.5%). A total of 90% of probands had genetic testing, of whom 27.3% harbored a likely pathogenic or pathogenic variant. Of patients with confirmed hypertrophic cardiomyopathy, 31 (28.7%) were treated for left ventricular outflow tract obstruction, including septal reduction in 13. Patients with either hypertrophic cardiomyopathy or left ventricular noncompaction and a history of atrial fibrillation were started on oral anticoagulation. Oral anticoagulation was also discussed with all patients with hypertrophic cardiomyopathy and apical aneurysm. Patients with a definite diagnosis of arrhythmogenic dominant right ventricular cardiomyopathy were started on β-blockers and given restrictive exercise prescriptions. A total of 17 patients with hypertrophic cardiomyopathy and 5 patients with likely pathogenic or likely variants in arrhythmogenic genes received primary prevention implantable cardioverter-defibrillators. No implantable cardioverter-defibrillators were warranted for arrhythmogenic dominant right ventricular cardiomyopathy. A total of 76 family members from 24 families had cascade screening, 32 of whom carried the familial variant. A total of 21 members from 13 gene-elusive families were evaluated by clinical screening, 3 of whom had positive screening. Conclusions Specialized IC clinics may improve diagnosis, management, and outcomes of patients with (possible) IC and their family members.
遗传性心肌病（ICs）相对少见。一般心内科医生在诊断和处理这些疾病方面经验较少。国际社会已经认识到需要设立专门的 IC 诊所。然而，目前仅有少数关于此类诊所的报告。
分析了我们诊所成立头 2 年因个人或家族（可能）IC 病史就诊的患者的临床数据。共对 196 个家族的 207 名患者进行了评估；13%的先证者的诊断发生了改变。最常见的改变是因可能的致心律失常性右室心肌病（62.5%）而就诊的患者。90%的先证者进行了基因检测，其中 27.3%携带可能致病或致病性变异。在确诊的肥厚型心肌病患者中，有 31 名（28.7%）因左心室流出道梗阻接受治疗，其中 13 名接受了室间隔切除术。有肥厚型心肌病或左心室致密化不全且有房颤病史的患者开始接受口服抗凝治疗。所有肥厚型心肌病和心尖部瘤患者也讨论了口服抗凝治疗。确诊为致心律失常性右室心肌病的患者开始服用β受体阻滞剂，并接受限制运动处方。17 名肥厚型心肌病患者和 5 名致心律失常基因中可能致病性或可能致病性变异患者接受了一级预防植入式心脏复律除颤器治疗。致心律失常性右室心肌病无需植入式心脏复律除颤器。24 个家族的 76 名家族成员接受了级联筛查，其中 32 名携带家族变异。13 个基因缺失家族的 21 名成员接受了临床筛查，其中 3 名筛查结果阳性。
专门的 IC 诊所可改善（可能）IC 患者及其家庭成员的诊断、治疗和预后。
