Abstract
Many inherited metabolic diseases (IMD) have cardiac manifestations. The aim of this study was to estimate the prevalence of IMD in adult patients with hypertrophic cardiomyopathy (HCM) and cardiac rhythm abnormalities that require cardiac implantable electronic devices (CIEDs). The study included a review of the medical files of patients aged 18 to 65 years who were followed in our cardiology department during the period 2010–2017. Metabolic explorations for Fabry disease (FD), mitochondrial cytopathies, and fatty-acid metabolism disorders were carried out in patients with unexplained etiology. The prevalence of IMD in patients with HCM was 5.6% (confidence interval (CI): 2.6–11.6). Six cases of IMD were identified: 1 mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome, 1 Hurler syndrome, 2 Friedreich’s ataxia, 1 FD, and 1 short-chain acyl-CoA dehydrogenase deficiency. Three cases of IMD were identified in patients requiring CIEDs: 1 patient with Leber hereditary optic neuropathy, 1 FD, and 1 short chain acyl-CoA dehydrogenase (SCAD) deficiency. IMD prevalence in patients with CIEDs was 3.1% (CI: 1.1–8.8). IMD evaluation should be performed in unexplained HCM and cardiac rhythm abnormalities adult patients, since the prevalence of IMD is relatively important and they could benefit from specific treatment and family diagnosis.
Highlights
More than 40 inherited metabolic diseases (IMD) could have cardiac involvement, including fatty-acid oxidation defects, glycogen storage disorders, lysosomal storage disorders, peroxisomal disease, mitochondrial cytopathy, organic acidemias, aminoacidopathies, and congenital disorders of glycosylation [1]
There has been no work to study the prevalence of hereditary metabolic diseases in adults with two types of cardiac disease: hypertrophic cardiomyopathy (HCM) and severe cardiac rhythm abnormalities requiring cardiac implantable electronic devices (CIEDs)
We report the case of the patient diagnosed in the CardioMetabo study with a so-called cardiac variant of Fabry disease (FD) who presented an HCM and severe arrhythmia without extracardiac FD manifestations
Summary
More than 40 inherited metabolic diseases (IMD) could have cardiac involvement, including fatty-acid oxidation defects, glycogen storage disorders, lysosomal storage disorders, peroxisomal disease, mitochondrial cytopathy, organic acidemias, aminoacidopathies, and congenital disorders of glycosylation [1]. Cardiac manifestations may reveal the disease or may appear during evolution, impacting the overall prognosis [2]. The most common cardiac presentations are hypertrophic cardiomyopathy (HCM) and cardiac rhythm abnormalities. HCM is defined by the presence of increased left and/or right ventricular wall thickness that is not explained by abnormal loading conditions [3]. The recommendations of the European Society of Cardiology (ESC) regarding HCM changed in 2014 [5]. The ESC “task force” is no longer limited to familial/sarcomeric HCM (40–60% of HCM), and the definition has extended to all potential HCM: 25–30% unknown cause and 5–10% genetic or nongenetic cause grouping metabolic diseases, neuromuscular diseases, and infiltrative cardiac diseases [3]. The overall prevalence of IMD among adults presenting a non-explicated HCM is not well established
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