Article
Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva.
Orphanet journal of rare diseases - 29 Jul 2020
Kou Samuel, De Cunto Carmen, Baujat Geneviève, Wentworth Kelly L, Grogan Donna R, Brown Matthew A, Di Rocco Maja, Keen Richard, Al Mukaddam Mona, le Quan Sang Kim-Hanh, Masharani Umesh, Kaplan Frederick S, Pignolo Robert J, Hsiao Edward C
Abstract excerpt
BACKGROUND: Genetic contributors to cardiac arrhythmias are often found in cardiovascular conduction pathways and ion channel proteins. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease of massive heterotopic ossification caused by a highly recurrent R206H mutation in ACVR1/ALK2. This mutation causes abnormal activation of the bone morphogenetic protein (BMP) pathway in response to Activin A....
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