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Fibrodysplasia ossificans progressiva in a newborn with cardiac involvement
Author(s) -
Marseglia Lucia,
D'Angelo Gabriella,
Manti Sara,
Manganaro Alessandro,
Calabrò Maria Pia,
Salpietro Carmelo,
Gitto Eloisa
Publication year - 2015
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12575
Subject(s) - fibrodysplasia ossificans progressiva , medicine , heterotopic ossification , ossification , anatomy , myositis ossificans , cardiology , pathology
Fibrodysplasia ossificans progressiva is a rare genetic disease that manifests in early life with malformed big toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. Mutation c.617 G > A in the activin A receptor type I gene is reported in all patients with fibrodysplasia ossificans progressiva. No cases of cardiac involvement have been described in children. We report the case of a child with halluces valgi at birth, along with two tender, firm, immovable masses located on the right and left parietal–occipital region, a transitory subluxation of the right hip and an unusual ventricular septal hypertrophy. We hypothesize that the ventricular septal hypertrophy could be the result of a thickening of the fibrous portion of the septum, and a possible new element of the phenotype, probably resulting from the mechanical stimuli secondary to the significant hemodynamic changes occurring at birth.