# Erfelijke cardiomyopathieën en hartritmestoornissen in het Midden-Oosten: genetisch profiel en klinische kenmerken

*geplaatst 2026-10-22 · Hartfalen · Mayo Clinic proceedings. Innovations, quality & outcomes · doi 10.1016/j.mayocpiqo.2026.100760 · https://hartvaat.nl/2026/12/01/erfelijke-cardiomyopathieen-en-hartritmestoornissen-in-het-midden-oosten-genetis/*

Deze review schetst het klinische en genetische profiel van erfelijke cardiomyopathieën en hartritmestoornissen in het Midden-Oosten, waar hoge consanguiniteit leidt tot een verhoogde prevalentie van autosomaal recessieve erfelijkheid. Patiënten in deze regio vertonen vaak een eerdere onset en agressiever fenotype, en er zijn populatiespecifieke founder-varianten geïdentificeerd, hoewel het hoge aantal varianten van onzekere betekenis (VUS) de klinische interpretatie bemoeilijkt. Uitbreiding van regionale genoominitiatieven en familiegebonden screeningsprogramma’s is essentieel om de risicostratificatie en preventie van plotselinge hartdood in deze ondervertegenwoordigde populatie te verbeteren.

## English: Clinical and Genetic Characteristics of Hereditary Arrhythmias and Cardiomyopathies in the Middle East.

This narrative review synthesizes clinical and genetic data on inherited arrhythmias and cardiomyopathies in the Middle East, highlighting how high rates of consanguinity drive an enrichment of autosomal recessive inheritance. Affected patients typically present with earlier onset and more aggressive phenotypes, alongside population-specific founder variants, though a high burden of variants of uncertain significance remains a major diagnostic challenge. Strengthening regional genomic databases and family-based screening programs is critical to improving risk stratification and preventing sudden cardiac death in this underrepresented population.

## Abstract (original, from the publication)

Inherited arrhythmias and cardiomyopathies are leading causes of sudden cardiac death in young individuals. Although global registries and genetic databases have advanced diagnosis and prevention globally, data from the Middle East (ME) remain limited and fragmented. This review synthesizes clinical and genetic evidence on long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, arrhythmogenic right ventricular cardiomyopathy, hypertrophic cardiomyopathy, and dilated cardiomyopathy across the ME. A defining feature of ME cohorts is the high prevalence of consanguinity, which shapes a distinctive genetic and clinical landscape across these conditions. Autosomal recessive inheritance is consistently enriched, producing homozygous genotypes, which frequently manifest as earlier onset and more aggressive clinical phenotypes compared with those in non-ME populations. Population-specific founder variants have been identified across multiple conditions, whereas consanguineous pedigrees have contributed to the discovery of novel disease genes and recessive mechanisms that expand the global genetic landscape of inherited cardiovascular disease. However, a disproportionately high burden of variants of uncertain significance persists across conditions, driven largely by underrepresentation of ME populations in global genomic reference databases. Emerging large-scale genome initiatives such as the Qatar Biobank, the Egyptian Genome Project, and the Greater Middle East Variome offer a viable path toward ancestry-specific variant interpretation. Strengthening regional registries, genomic resources, and family-based screening programs will be essential to improving risk stratification and prevention of sudden cardiac death in the ME.

Auteurs: Omar Ahmad, Huzaifa Muhammad, Pattara Rattanawong, Abdullah Alissa, Zuhair Al-Hassnan, Dania Mohty, Bandar Alghamdi, Najmeddine Echahidi, Sumeet S Chugh, Win-Kuang Shen

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Bron: Mayo Clinic proceedings. Innovations, quality & outcomes, https://doi.org/10.1016/j.mayocpiqo.2026.100760. Bijgewerkt 2026-10-16T00:48:27Z. Citeer vrij, met bronvermelding en een link naar hartvaat.nl (de url van het record). Samenvattingen zijn redactioneel werk van HartVaat; de oorspronkelijke publicaties blijven van hun uitgevers (doi). Geen medisch advies.