Cardiac Manifestations in Inherited Metabolic Diseases
Mubeena Javeda✉, Danish Kumar Goswamib, Hem Rajb, Kiran Lohanab, Barkha Goswamib, Ali Karimb, Allah Warayob, Palwasha Farooqic, Haroon Alamyc, Zainab Obaid Ullahd, Aamer Mohammade, Syed Ahmad Farooqib, Hafsah Alif, Darab Shujag, Jahanzeb Malikh✉, Zulfiqar Qutrio Balochi
- aDepartment of Medicine, Allama Iqbal Medical College, Lahore, Pakistan
- bDepartment of Medicine, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan
- cDepartment of Medicine, Kabul University of Medical Sciences, Kabul, Afghanistan
- dDepartment of Medicine, Fatima Jinnah Medical University, Lahore, Pakistan
- eDepartment of Medicine, Rajiv Gandhi University of Health Sciences, Bengaluru, India
- fDepartment of Medicine, Jinnah Sindh Medical University, Karachi, Pakistan
- gDepartment of Medicine, Services Hospital, Lahore, Pakistan
- hDepartment of Cardiovascular Medicine, Cardiovascular Analytics Group, Islamabad, Pakistan
- iDepartment of Interventional Cardiology, Ascension Borgess Hospital, Michigan, USA
- ✉Corresponding author
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Abstract
Inherited metabolic diseases (IMDs) stem from genetic defects affecting enzyme function within specific metabolic pathways, collectively constituting rare conditions with an incidence of less than 1/100,000 births. While IMDs typically manifest with multisystemic symptoms, cardiac manifestations are common, notably hypertrophic cardiomyopathy. Additionally, they can lead to dilated or restrictive cardiomyopathy, as well as noncompacted left ventricular cardiomyopathy. Rhythm disturbances such as atrioventricular conduction abnormalities, Wolff-Parkinson-White syndrome, and ventricular arrhythmias, along with valvular pathologies and ischemic coronary issues, are also prevalent. This study aims to provide a narrative review of IMDs associated with cardiac involvement, delineating the specific cardiac manifestations of each disorder alongside systemic symptoms pivotal for diagnosis.
TL;DRThis study aims to provide a narrative review of IMDs associated with cardiac involvement, delineating the specific cardiac manifestations of each disorder alongside systemic symptoms pivotal for diagnosis. (Semantic Scholar)