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Article

Cardiovascular Gaucher Disease Type 3c Associated With Homozygous Asp448His GBA1 Variant: First Case Series From Kuwait.

American journal of medical genetics. Part A - 1 Oct 2025

Alsharhan Hind, Alkurd Fay, Ebrahim Mohammad A, Ali Nawal Y, Ali Alshyamaa A, Elshafie Reem M, Ramadan Dina G, Abdulmalek Kefaya, Dhaunsi Gursev S, Albash Buthaina, Bastaki Laila

Abstract excerpt

Cardiac involvement in Gaucher disease (GD) is an uncommon feature, most often associated with the homozygous Asp448His (D409H) variant in GBA1 and typically presents with valvular and pericardial calcifications or myocardial infiltration. To date, approximately 132 individuals with this cardiovascular phenotype (GDIIIc) have been reported, with limited representation from the Middle East. This study reports the...

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PMID: 40491257
DOI: 10.1002/ajmg.a.64148

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GBA1

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