Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva

Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva

Abstract 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 ACVR...

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Bibliographic Details
Main Authors: Samuel Kou, Carmen De Cunto, Geneviève Baujat, Kelly L. Wentworth, Donna R. Grogan, Matthew A. Brown, Maja Di Rocco, Richard Keen, Mona Al Mukaddam, Kim-Hanh le Quan Sang, Umesh Masharani, Frederick S. Kaplan, Robert J. Pignolo, Edward C. Hsiao
Format: Article
Language:English
Published: BMC 2020-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Fibrodysplasia Ossificans Progressiva
FOP
Cardiovascular disease
Heterotopic ossification
ECG
Electrocardiogram
Online Access:http://link.springer.com/article/10.1186/s13023-020-01465-x

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http://link.springer.com/article/10.1186/s13023-020-01465-x

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