title: Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy.
abstract: Generalized arterial calcification of infancy (GACI, OMIM 208000) and pseudoxanthoma elasticum (PXE, OMIM 264800) are rare autosomal-recessive disorders which represent the opposite ends of the same spectrum of pathologies characterized by progressive ectopic calcification and degeneration of elastic fibers at skin, eyes, and cardiovascular level. Patients with GACI suffer from hypertension, severe myocardial ischemia, and congestive heart failure and often die within 6 months of life. On the other end, PXE is associated with considerable morbidity, rarely with mortality. GACI and PXE are associated with biallelic mutations in ENPP1 and in ABCC6. We report the case of a 4-year-old Italian child submitted to heart transplant, at 18 months old, for end-stage heart failure due to extensive myocardial infarction of the left ventricle and diffuse coronary calcifications. The histology showed generalized arterial calcification and the molecular analysis identified mutations in ABCC6. Two years after transplantation, the child shows good clinical conditions and growth with no recurrence of calcium deposits in the heart.
  
  
  CONCLUSIONS
  Bisphosphonate therapy at present is the treatment of choice for systemic arterial involvement in GACI, and heart transplant has proven to be the definitive treatment in case with extensive myocardial infarction, as in our. Molecular analysis is mandatory for a complete diagnosis and familial counseling.
authors.affiliation: Department of Pathology and Molecular Histopathology, Bambino Gesù Children's Hospital, IRCCS, Rome Piazza Sant'Onofrio, 4 00165, Rome, Italy, isabella.giovannoni@opbg.net.
authors.forename: Isabella
authors.initials: I
authors.lastname: Giovannoni
authors.forename: Francesco
authors.initials: F
authors.lastname: Callea
authors.forename: Lorena
authors.initials: L
authors.lastname: Travaglini
authors.forename: Antonio
authors.initials: A
authors.lastname: Amodeo
authors.forename: Paola
authors.initials: P
authors.lastname: Cogo
authors.forename: Aurelio
authors.initials: A
authors.lastname: Secinaro
authors.forename: Carla
authors.initials: C
authors.lastname: Bizzarri
authors.forename: Renato
authors.initials: R
authors.lastname: Cutrera
authors.forename: May
authors.initials: M
authors.lastname: El Hachem
authors.forename: Paola
authors.initials: P
authors.lastname: Francalanci
mesh_terms: D000792:Angiography; D004247:DNA / Q000235:genetics; D005500:Follow-Up Studies; D006333:Heart Failure / Q000209:etiology / Q000601:surgery*; D016027:Heart Transplantation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D010727:Phosphoric Diester Hydrolases / Q000235:genetics / Q000378:metabolism; D016133:Polymerase Chain Reaction; D011755:Pyrophosphatases / Q000235:genetics / Q000378:metabolism; D013997:Time Factors; D014057:Tomography, X-Ray Computed; D061205:Vascular Calcification / Q000150:complications* / Q000175:diagnosis / Q000235:genetics
chemical_list: D004247:DNA; D027425:ATP-Binding Cassette, Sub-Family C Proteins; D010727:Phosphoric Diester Hydrolases; D011755:Pyrophosphatases; C102029:ABCC6 protein, human; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1