Evangeliou A, Papadopoulou-Legbelou K, Daphnis E, Ganotakis E, Vavouranakis I, Michailidou H, Hitoglou-Makedou A, Nicolaidou P, Wevers R, Varlamis G
Department of Pediatrics and Internal Medicine, University Hospital, Crete, Greece.
Minerva Pediatr. 2007 Jun;59(3):215-8.
The aim of the study was to investigate the frequency and type of cardiac manifestations in a defined group of patients with inborn errors of metabolism. This paper also explores the key role of cardiac manifestations in the diagnosis of inborn errors of metabolism in daily practice.
Out of the 287 patients with the potential for inborn errors of metabolism who had been referred to the University Hospital of Heraklion (202 children and adolescents and 85 adults), 41 were found to have a variety of cardiac manifestations, including cardiomyopathy, cardiomegaly, atrioventricular conduction disorders and coronary artery disease.
In 15 out of the 41 patients a diagnosis of inborn errors of metabolism was established, while the total number of patients with inborn errors of metabolism was 60 out of the 287. In 6 out of the 15 patients the major symptoms were from the cardiovascular system and 7 of them were adults with symptoms initiating in childhood.
The cardiac findings consist of a neglected area in the diagnosis of the inborn errors of metabolism. Neurologists, pediatricians and internists should cooperate with cardiologists in managing people with unexplained cardiac symptoms and signs and be aware that several inborn errors of metabolism are associated with cardiac abnormalities and mild neurologic findings.
本研究旨在调查特定组先天性代谢缺陷患者心脏表现的频率和类型。本文还探讨了心脏表现在日常实践中对先天性代谢缺陷诊断的关键作用。
在转诊至伊拉克利翁大学医院的287例有先天性代谢缺陷可能的患者中（202例儿童和青少年，85例成人），发现41例有各种心脏表现，包括心肌病、心脏扩大、房室传导障碍和冠状动脉疾病。
41例患者中有15例确诊为先天性代谢缺陷，而287例患者中先天性代谢缺陷患者总数为60例。15例患者中有6例主要症状来自心血管系统，其中7例为成人，症状始于儿童期。
心脏检查结果在先天性代谢缺陷的诊断中是一个被忽视的领域。神经科医生、儿科医生和内科医生在管理有无法解释的心脏症状和体征的患者时应与心脏病专家合作，并应意识到几种先天性代谢缺陷与心脏异常和轻度神经学表现有关。
