Cardiac manifestations in inherited metabolic diseases

Inherited metabolic diseases (IMD) are caused by the functional defect of an enzyme, of genetic origin, that provokes a blockage in a specific metabolic pathway. Individually, IMD are considered rare diseases, with an incidence of less than 1/100,000 births. The symptoms are usually multisystemic, b...

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Published inCurrent problems in cardiology Vol. 49; no. 7; p. 102587
Main Authors Cuenca-Gómez, José Ángel, Lara-Rojas, Carmen María, Bonilla-López, Antonio
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier Inc 01.07.2024
Subjects
Fabry disease
hypertrophic cardiomyopathy
Inherited metabolic diseases
cardiomyopathies
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Summary:Inherited metabolic diseases (IMD) are caused by the functional defect of an enzyme, of genetic origin, that provokes a blockage in a specific metabolic pathway. Individually, IMD are considered rare diseases, with an incidence of less than 1/100,000 births. The symptoms are usually multisystemic, but frequently include cardiac manifestations. Of these, the most common are cardiomyopathies, especially hypertrophic cardiomyopathy. In addition, they can cause dilated or restrictive cardiomyopathy and non-compacted cardiomyopathy of the left ventricle. Characteristic signs also include rhythm alterations (atrio-ventricular conduction disturbances, Wolff-Parkinson-White syndrome or ventricular arrhythmias), valvular pathology and ischaemic coronary pathologies. The aim of this study is to present a narrative review of the IMD that may produce cardiac involvement. We describe both the specific cardiac manifestations of each disease and the systemic symptoms that guide diagnosis.
Bibliography:ObjectType-Article-2
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ISSN:0146-2806
1535-6280
DOI:10.1016/j.cpcardiol.2024.102587