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H. El Masry

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Review Open access Sep 2026

Connective tissue disorders and cardiac arrhythmias: genetic pathways, mechanistic bridges, and clinical implications

Background Connective tissue disorders (CTDs) such as Marfan syndrome, Loeys-Dietz syndrome, and Ehlers-Danlos syndromes are traditionally defined by vascular fragility and aortic complications. Increasing evidence, however, demonstrates that CTDs also predispose to atrial and ventricular arrhythmias, often independent...

L. Dreher, Hussein Abdul Nabi, Ramzi Ibrahim et al. · 0 citations
Open access Jan 2026

The Role of Genetic Variation in Phenotypic Variability in Loeys–Dietz Syndrome

Distinct genotype–phenotype associations exist among LDS subtypes, and TGFBR1 and TGFBR2 variants are associated with a greater burden of aggressive vascular disease, whereas SMAD3 variants are linked to mitral valve disease, peripheral neuropathy, and osteoarthritis.

Hussein Abdul Nabi, L. Dreher, Jack Hartnett et al. · 0 citations

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