Sadiku Flutura, Rutz Tobias, Superti-Furga Andrea, Monney Pierre, Tran Christel
Division of Genetic Medicine, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland.
Service of Cardiology, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Mol Genet Metab Rep. 2025 Apr 11;43:101216. doi: 10.1016/j.ymgmr.2025.101216. eCollection 2025 Jun.
Inherited metabolic diseases (IMDs) can affect the heart, but data on cardiac manifestations in adults are scarce. This study examines the clinical and radiological features of cardiac complications in adults with IMDs.
This retrospective study included adult patients at our metabolic clinic with a biochemical and/or genetic diagnosis of IMD who underwent cardiac investigations. Records were reviewed for clinical features, echocardiograms, electrocardiograms, and treatment. Patients were categorized into three IMD subgroups: disorders of small molecules, complex molecules, and energy production.
Of the 115 adult patients with IMD, 48 underwent cardiac testing (mean age 39.1 ± 14.8 years). Abnormal cardiac findings were reported in 23 of these patients (47.9 %, 14 men). Five (21.7 %) were symptomatic with dyspnea, peripheral edema, or chest pain. Fourteen patients (60.9 %) had heart muscle disease, 6 (26.1 %) had valvular involvement, and 5 (21.7 %) had arrhythmia. Valvular and heart muscle disease predominated in complex and small molecule disorders (3/4 and 7/9 respectively). Energy production disorders showed mixed involvement: heart muscle disease (5/10) and arrhythmia (5/10). Twelve of the 23 patients with abnormal findings (52.2 %) received specific cardiac therapy. All but one patient remained stable under treatment.
In this cohort, cardiac disease was diagnosed in 23 of 115 adults with IMD (20 %), including structural heart defects and arrhythmia. The pattern and severity of cardiac involvement varied between disorders, with arrhythmia mainly associated with energy production disorders. Outcomes were favorable in most cases, likely due to collaboration between metabolic physicians and cardiologists and timely follow-up and treatment.
遗传性代谢疾病（IMD）可累及心脏，但关于成人心脏表现的数据较少。本研究旨在探讨成人IMD患者心脏并发症的临床及影像学特征。
这项回顾性研究纳入了在我们代谢门诊接受心脏检查、经生化和/或基因诊断为IMD的成年患者。查阅记录以了解临床特征、超声心动图、心电图及治疗情况。患者被分为三个IMD亚组：小分子疾病、复合分子疾病和能量产生障碍疾病。
115例成年IMD患者中，48例接受了心脏检查（平均年龄39.1±14.8岁）。其中23例（47.9%，14例男性）报告有心脏异常发现。5例（21.7%）有呼吸困难、外周水肿或胸痛等症状。14例患者（60.9%）有心肌病，6例（26.1%）有瓣膜受累，5例（21.7%）有心律失常。瓣膜病和心肌病在复合分子疾病和小分子疾病中占主导（分别为3/4和7/9）。能量产生障碍疾病表现为混合受累：心肌病（5/10）和心律失常（5/10）。23例有异常发现的患者中，12例（52.2%）接受了特异性心脏治疗。除1例患者外，所有患者在治疗期间病情保持稳定。
在该队列中，115例成年IMD患者中有23例（20%）被诊断患有心脏病，包括结构性心脏缺陷和心律失常。不同疾病的心脏受累模式和严重程度各不相同，心律失常主要与能量产生障碍有关。大多数情况下预后良好，这可能得益于代谢科医生与心脏病专家之间的合作以及及时的随访和治疗。
