title: Fibrodysplasia ossificans progressiva in a newborn with cardiac involvement.
abstract: 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.
authors: Neonatal Intensive Care Unit, Department of Pediatrics, University of Messina, Messina, Italy.
authors: Lucia
authors: L
authors: Marseglia
authors: Neonatal Intensive Care Unit, Department of Pediatrics, University of Messina, Messina, Italy.
authors: Gabriella
authors: G
authors: D'Angelo
authors: Neonatal Intensive Care Unit, Department of Pediatrics, University of Messina, Messina, Italy.
authors: Sara
authors: S
authors: Manti
authors: Neonatal Intensive Care Unit, Department of Pediatrics, University of Messina, Messina, Italy.
authors: Alessandro
authors: A
authors: Manganaro
authors: Neonatal Intensive Care Unit, Department of Pediatrics, University of Messina, Messina, Italy.
authors: Maria Pia
authors: MP
authors: Calabrò
authors: Neonatal Intensive Care Unit, Department of Pediatrics, University of Messina, Messina, Italy.
authors: Carmelo
authors: C
authors: Salpietro
authors: Neonatal Intensive Care Unit, Department of Pediatrics, University of Messina, Messina, Italy.
authors: Eloisa
authors: E
authors: Gitto
mesh_terms: D030201:Activin Receptors, Type I / Q000235:genetics; D004452:Echocardiography; D006215:Hallux Valgus / Q000175:diagnosis* / Q000235:genetics; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D006984:Hypertrophy; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D009221:Myositis Ossificans / Q000175:diagnosis* / Q000235:genetics; D014057:Tomography, X-Ray Computed; D054088:Ventricular Septum / Q000473:pathology*
chemical_list: C425423:ACVR1 protein, human; D030201:Activin Receptors, Type I
keywords: activin A receptor type I; cardiac involvement; fibrodysplasia ossificans progressiva; heterotopic ossification; subluxation of hip