title: Generalized Arterial Calcification in a Recipient Twin: Discordant Fetal Hemodynamics Result in Differing Phenotypes in Monozygotic Twins with an ABCC6 Mutation.
abstract: Recipients of the twin-twin transfusion syndrome (TTTS) often develop cardiac manifestations, but arterial calcification has rarely been reported. Generalized arterial calcification of infancy (GACI) is a genetic disorder with high infantile mortality. We report the case of a TTTS recipient with moderate cardiomyopathy at diagnosis who developed progressive calcification of the pulmonary arteries and aorta after successful in utero laser therapy. Postnatally, both twins were diagnosed with a heterozygous ABCC6 gene mutation associated with GACI. The recipient had progressive supravalvular pulmonary and aortic stenosis, was treated with bisphosphonate therapy, and successfully underwent cardiac surgery at 4 months of age. The donor twin with the same mutation remained phenotypically normal at 15 months of age. This case illustrates monozygotic fetuses with discordant in utero hemodynamics, with subsequent development of phenotypic differences. TTTS recipients with arterial calcifications should undergo genetic testing for GACI.
authors.affiliation: Division of Cardiology, Children's Hospital Los Angeles, Los Angeles, Calif., USA.
authors.forename: Jodie K
authors.initials: JK
authors.lastname: Votava-Smith
authors.forename: Pisit
authors.initials: P
authors.lastname: Pitukcheewanont
authors.forename: Linda M
authors.initials: LM
authors.lastname: Randolph
authors.forename: Ramen H
authors.initials: RH
authors.lastname: Chmait
mesh_terms: D000328:Adult; D005260:Female; D005330:Fetofetal Transfusion / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D006439:Hemodynamics / Q000502:physiology; D006801:Humans; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D011247:Pregnancy; D000071079:Stenosis, Pulmonary Artery / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D014430:Twins, Monozygotic / Q000235:genetics*; D061205:Vascular Calcification / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*
chemical_list: D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human
keywords: Arterial calcification; Cardiomyopathy; Congenital heart disease; Genetic disorder; Monochorionic twins; Twin-twin transfusion syndrome