UZHHOROD NATIONAL UNIVERSITY, UZHHOROD, UKRAINE.
Wiad Lek. 2023;76(11):2531-2534. doi: 10.36740/WLek202311130.
A 25-year-old male with known EDMD was referred for the cardiology consultation due to symptoms of heart failure. Echocardiography showed decrease left ventricular ejection fraction (LVEF) and therapy with ramipril, torsemide and rivaroxaban was initiated. Despite initial improvement, the patient later developed presyncope, bradycardia, irregular heartbeat and worsening of dyspnea. Therefore, implantation of resynchronization pacemaker with the function of implantable cardioverter-defibrillator (CRT-D/P) was performed. Ramipril was substituted by sacubitril/valsartan, and mineralocorticoid receptor antagonist and beta-blocker were initiated. Genetic testing found AD mutation in lamin A/C gene LMNA c.746G>A, p.(Arg249Gln). Upon follow-up, the patient demonstrated resolution of dyspnea and reverse remodeling of the left ventricle with complete restoration of the LVEF.
一位 25 岁的男性已知患有 EDMD，因心力衰竭症状被转介至心内科进行咨询。超声心动图显示左心室射血分数（LVEF）降低，开始使用雷米普利、托塞米和利伐沙班进行治疗。尽管最初有所改善，但患者后来出现晕厥前状态、心动过缓、心律失常和呼吸困难恶化。因此，进行了具有植入式心脏复律除颤器（CRT-D/P）功能的再同步起搏治疗。将雷米普利替换为沙库巴曲缬沙坦，并开始使用盐皮质激素受体拮抗剂和β受体阻滞剂。基因检测发现 lamin A/C 基因 LMNA c.746G>A，p.（Arg249Gln）中的 AD 突变。随访时，患者呼吸困难缓解，左心室逆重构，LVEF 完全恢复。
