Cardiomyopathy caused by inborn errors of metabolism / 中国小儿急救医学

ABSTRACT

As the heart is a metabolically active organ, metabolic disorders cause cardiomyopathy in children because of the deficient energy production of the myocardial.Inborn errors of metabolism(IEM) often present with cardiomyopathy, such as hypertrophic cardiomyopathy and dilated cardiomyopathy, leading to heart failure or cardiogenic shock, or even sudden cardiac death.More than 40 IEMs are reported to cause cardiomyopathy, including fatty acid oxidation defects, glycogen or lysosomal storage diseases, mitochondrial cardiomyopathies, organic acidaemias, minoacidopathies and congenital disorders of glycosylation.One of the hallmarks of IEM is multisystemic involvement.The diagnosis is imperative to enable the effective institution of disease-specific management strategies.