Cardiomyopathy in Coffin-Lowry syndrome.

Article Details


Facher JJ, Regier EJ, Jacobs GH, Siwik E, Delaunoy JP, Robin NH

Cardiomyopathy in Coffin-Lowry syndrome.

Am J Med Genet A. 2004 Jul 15;128A(2):176-8.

PubMed ID
15214012 [ View in PubMed

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.

DrugBank Data that Cites this Article

NameUniProt ID
Ribosomal protein S6 kinase alpha-3P51812Details