title: Cardiomyopathy in Coffin-Lowry syndrome.
abstract: Coffin-Lowry syndrome (CLS) is a rare but well-documented X-linked disorder characterized by small size, developmental delay/mental retardation, and characteristic facial and skeletal findings in affected males. The phenotype in affected females is far more variable and can include developmental differences, obesity, and characteristic facial and skeletal differences. Cardiac anomalies are reported in less than 20% of affected males, with cardiomyopathy being one of the rare but reported complications of this disorder. However, cardiomyopathy is not well characterized in CLS. Here, we report on a 14-year-old boy with physical and developmental findings consistent with CLS who presented with a relatively sudden onset of signs of congestive heart failure due to a restrictive cardiomyopathy; an endomyocardial biopsy demonstrated non-specific hypertrophic myocyte alterations consistent with cardiomyopathy. This is the first description of the histology and electron microscopy of cardiomyopathy in CLS.
authors.affiliation: Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Cleveland, Ohio, USA.
authors.forename: Jennifer J
authors.initials: JJ
authors.lastname: Facher
authors.forename: Elizabeth J
authors.initials: EJ
authors.lastname: Regier
authors.forename: Gretta H
authors.initials: GH
authors.lastname: Jacobs
authors.forename: Ernest
authors.initials: E
authors.lastname: Siwik
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Delaunoy
authors.forename: Nathaniel H
authors.initials: NH
authors.lastname: Robin
mesh_terms: D000293:Adolescent; D009202:Cardiomyopathies / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D041321:Chromosomes, Human, X; D038921:Coffin-Lowry Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D004699:Endocardium / Q000473:pathology / Q000648:ultrastructure; D005091:Exons; D019066:Facies; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D010641:Phenotype; D038744:Ribosomal Protein S6 Kinases, 90-kDa / Q000235:genetics
chemical_list: D038744:Ribosomal Protein S6 Kinases, 90-kDa; C069330:ribosomal protein S6 kinase, 90kDa, polypeptide 3