Fibrodysplasia ossificans progressiva in a newborn with cardiac involvement

• Published in: Pediatrics international Vol. 57; no. 4; pp. 719 - 721
• Main Authors: Marseglia, Lucia, D'Angelo, Gabriella, Manti, Sara, Manganaro, Alessandro, Calabrò, Maria Pia, Salpietro, Carmelo, Gitto, Eloisa
• Format: Journal Article
• Language: English
• Published: Australia Blackwell Publishing Ltd 01-08-2015
• Subjects: activin A receptor type I; Activin Receptors, Type I - genetics; cardiac involvement; Cardiovascular disease; Echocardiography; fibrodysplasia ossificans progressiva; Genetic disorders; Hallux Valgus - diagnosis; Hallux Valgus - genetics; Heart Defects, Congenital - diagnosis; Heart Defects, Congenital - genetics; heterotopic ossification; Humans; Hypertrophy; Infant, Newborn; Male; Mutation, Missense - genetics; Myositis Ossificans - diagnosis; Myositis Ossificans - genetics; Newborn babies; Pediatrics; subluxation of hip; Tomography, X-Ray Computed; Ventricular Septum - pathology; heterotopic ossification; cardiac involvement; fibrodysplasia ossificans progressiva; activin A receptor type I; subluxation of hip
• ISSN: 1328-8067; 1442-200X
• DOI: 10.1111/ped.12575

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.617G>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.