物候学
病因学
医学
心肌病
内科学
儿科
发病年龄
胃肠病学
心脏病学
病理
疾病
心力衰竭
生物
遗传学
基因
突变体
作者
Anwar Baban,Rachele Adorisio,Bernadette Corica,Cristiano Rizzo,Federica Calì,Michela Semeraro,Roberta Taurisano,Monia Magliozzi,Rosalba Carrozzo,Francesco Parisi,Bruno Dallapiccola,Frédéric M. Vaz,Fabrizio Drago,Carlo Dionisi‐Vici
摘要
Abstract Infantile onset cardiomyopathies are highly heterogeneous with several phenocopies compared with adult cardiomyopathies. Multidisciplinary management is essential in determining the underlying etiology in children's cardiomyopathy. Elevated urinary excretion of 3‐methylglutaconic acid (3‐MGA) is a useful tool in identifying the etiology in some metabolic cardiomyopathy. Here, we report the delayed appearance of 3‐MGA‐uria, between 6 and 18 months in three patients (out of 100 childhood onset cardiomyopathy) with neonatal onset cardiomyopathy, secondary to TMEM70 mutations and TAZ mutations (Barth syndrome), in whom extensive metabolic investigations, performed in the first weeks of life, did not display 3‐MGA‐uria. Serial retrospective evaluations showed full characteristic features of TMEM70 and TAZ mutations (Barth syndrome) in these three patients, including a clearly abnormal monolysocardiolipin/cardiolipin ratio in the two Barth syndrome patients. Serially repeated metabolic investigations finally discovered the 3‐MGA‐uria biomarker in all three patients between the age of 6 and 18 months. Our observation provides novel insights into the temporal appearance of 3‐MGA‐uria in TMEM70 and TAZ mutations (Barth syndrome) and focus the importance of multidisciplinary management and careful evaluation of family history and red flag signs for phenocopies in infantile onset cardiomyopathies.
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