{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T16:54:39Z","timestamp":1762102479635,"version":"build-2065373602"},"reference-count":44,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2020,3,4]],"date-time":"2020-03-04T00:00:00Z","timestamp":1583280000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>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\u20132017. 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\u201311.6). Six cases of IMD were identified: 1 mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome, 1 Hurler syndrome, 2 Friedreich\u2019s 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\u20138.8). 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.<\/jats:p>","DOI":"10.3390\/jcm9030694","type":"journal-article","created":{"date-parts":[[2020,3,4]],"date-time":"2020-03-04T10:46:08Z","timestamp":1583318768000},"page":"694","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study"],"prefix":"10.3390","volume":"9","author":[{"given":"Marina","family":"Brailova","sequence":"first","affiliation":[{"name":"Biochemistry and Molecular Genetic Department, CHU Clermont-Ferrand, 63000 Clermont-Ferrand, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6625-5178","authenticated-orcid":false,"given":"Guillaume","family":"Clerfond","sequence":"additional","affiliation":[{"name":"Cardiology Department, CHU Clermont-Ferrand, Faculty of Medicine, Universit\u00e9 Clermont Auvergne, CNRS, SIGMA Clermont, Institut Pascal, 63000 Clermont-Ferrand, France"},{"name":"INI-CRCT F-CRIN, 54500 Nancy, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Romain","family":"Tr\u00e9sorier","sequence":"additional","affiliation":[{"name":"Cardiology Department, CHU Clermont-Ferrand, Faculty of Medicine, Universit\u00e9 Clermont Auvergne, CNRS, SIGMA Clermont, Institut Pascal, 63000 Clermont-Ferrand, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R\u00e9gine","family":"Minet-Quinard","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Genetic Department, CHU Clermont-Ferrand, Faculty of Medicine, Universit\u00e9 Clermont-Auvergne, CNRS 6293, INSERM 1103, GReD, 63000 Clermont-Ferrand, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Durif","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Genetic Department, CHU Clermont-Ferrand, 63000 Clermont-Ferrand, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9547-0835","authenticated-orcid":false,"given":"Gr\u00e9goire","family":"Massoulli\u00e9","sequence":"additional","affiliation":[{"name":"Cardiology Department, CHU Clermont-Ferrand, Faculty of Medicine, Universit\u00e9 Clermont Auvergne, CNRS, SIGMA Clermont, Institut Pascal, 63000 Clermont-Ferrand, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3778-7161","authenticated-orcid":false,"given":"Bruno","family":"Pereira","sequence":"additional","affiliation":[{"name":"Biostatistics Unit (DRCI), CHU de Clermont-Ferrand, 63000 Clermont-Ferrand, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7452-315X","authenticated-orcid":false,"given":"Vincent","family":"Sapin","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Genetic Department, CHU Clermont-Ferrand, Faculty of Medicine, Universit\u00e9 Clermont-Auvergne, CNRS 6293, INSERM 1103, GReD, 63000 Clermont-Ferrand, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Romain","family":"Eschalier","sequence":"additional","affiliation":[{"name":"Cardiology Department, CHU Clermont-Ferrand, Faculty of Medicine, Universit\u00e9 Clermont Auvergne, CNRS, SIGMA Clermont, Institut Pascal, 63000 Clermont-Ferrand, France"},{"name":"INI-CRCT F-CRIN, 54500 Nancy, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2707-4320","authenticated-orcid":false,"given":"Damien","family":"Bouvier","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Genetic Department, CHU Clermont-Ferrand, Faculty of Medicine, Universit\u00e9 Clermont-Auvergne, CNRS 6293, INSERM 1103, GReD, 63000 Clermont-Ferrand, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,3,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Hollak, C.E.M., and Lachmann, R. 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