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Increased frequency of congenital heart defects in Menkes disease.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Hicks, Julia D. Donsante, Anthony Pierson, Tyler M. Gillespie, Matthew J. Chou, Denise E. Kaler, Stephen G.
Description	Country affiliation: United States Author Affiliation: Hicks JD ( Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health, Bethesda, Maryland 20892-1853, USA.)
Abstract	ATP7A is a copper-transporting ATPase critical for central and peripheral nervous system function. Mutations in ATP7A cause Menkes disease and occipital horn syndrome (OHS), allelic X-linked recessive conditions that feature vascular abnormalities ascribed to low activity of lysyl oxidase, a copper-dependent enzyme. From a recently created Menkes disease/OHS patient registry, we identified four of 95 patients with major congenital heart defects (4.2%), a proportion exceeding the general population prevalence (≈1%). In conjunction with mouse models of Menkes disease, OHS, and lysyl oxidase deficiency (which feature aortic aneurysms, irregular attachment between vascular endothelium and mesoderm, and other defects of embryological development) our observation suggests an important role of copper metabolism in cardiac development. Congenital heart disease may be an under-appreciated abnormality in Menkes disease, and should be considered in a broad differential diagnosis of cardiac defects found prenatally in male fetuses. Conversely, newborn infants with suspected or confirmed Menkes disease should be evaluated for heart disease by careful clinical examination and echocardiography, if indicated.
File Format	HTM / HTML
ISSN	09628827
e-ISSN	14735717
DOI	10.1097/MCD.0b013e32834ea52b
Journal	Clinical Dysmorphology
Issue Number	2
Volume Number	21
Language	English
Publisher	Lippincott Williams & Wilkins
Publisher Date	2012-04-01
Publisher Place	Great Britain (UK)
Access Restriction	Open
Subject Keyword	Discipline Teratology Adenosine Triphosphatases Genetics Cation Transport Proteins Heart Defects, Congenital Complications Menkes Kinky Hair Syndrome Mutation Fatal Outcome Diagnosis Epidemiology Infant Infant, Newborn Prognosis Research Support, N.i.h., Extramural
Content Type	Text
Resource Type	Case study Article
Subject	Anatomy Pathology and Forensic Medicine Genetics (clinical) Pediatrics, Perinatology and Child Health

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