Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study

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.

Targeting lipid metabolism as a new therapeutic strategy for inherited cardiomyopathies

“…In addition to lipid accumulation, failing hearts also exhibit impaired metabolic flexibility in switching between different energy substrates, including fatty acids, glucose, ketones, and amino acids ( 13 ). The lack of sufficient energy substrates due to prolonged fasting is, in fact, a known trigger for inherited cardiomyopathies ( 14 ). Taken together, both internal and external factors could affect cardiac performance and disease progression by disrupting metabolic homeostasis.…”

“…Mouse hearts carrying mutated MYH6 , one of the HCM-causal genes ( 41 ), showed decreased mitochondrial ATP hydrolysis ( 42 ). Additionally, a high prevalence of HCM is observed among patients with mitochondrial diseases, and several mutated mitochondrial genes are known to contribute to HCM development, such as HADHB ( 14 , 43 ). Taken together, impaired mitochondrial lipid metabolism and the switch to glycolysis are important for HCM initiation and progression.…”

Applications of nanogenerators for biomedical engineering and healthcare systems

“…An implantable medical equipment 31 combines intelligently electronic manufacturing technology and medicine 32,33 to provide highly convenient, fast, and accurate medical services for people (Scheme 1). To name a few, an emerging trend of biomedical engineering has grown prosperous in the postoperative rehabilitation via early diagnosis, [34][35][36][37] therapy, [38][39][40][41] disease treatment, 42,43 and functional organ replacement. 44,45 Besides, the healthcare systems involve the specific drug delivery, [46][47][48][49][50] and long-term real-time health status monitoring.…”