Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva.
Samuel KouCarmen De CuntoGeneviève BaujatKelly L WentworthDonna R GroganMatthew A BrownMaja Di RoccoRichard KeenMona Al MukaddamKim-Hanh le Quan SangUmesh MasharaniFrederick S KaplanRobert J PignoloEdward C HsiaoPublished in: Orphanet journal of rare diseases (2020)
We found that patients with FOP may have subclinical conduction abnormalities manifesting on ECG, independent of heterotopic ossification. Although clinically significant heart disease is not typically associated with FOP, and the clinical implications for cardiovascular risk remain unclear, knowledge about ECG and echocardiogram changes is important for clinical care and research trials in patients with FOP. Further studies on how ACVR1/ALK2R206H affects cardiac health will help elucidate the underlying mechanism.