Structural and molecular pathology of the heart in Carvajal syndrome
SR Kaplan, JJ Gard, L Carvajal-Huerta… - Cardiovascular …, 2004 - Elsevier
BACKGROUND: Carvajal syndrome is a familial cardiocutaneous syndrome consisting of
woolly hair, palmoplantar keratoderma, and heart disease. It is caused by a recessive
deletion mutation in desmoplakin, an intracellular protein that links desmosomal adhesion
molecules to intermediate filaments of the cytoskeleton. The pathology of Carvajal syndrome
has not been described. METHODS: Here, we report the first description of the structural and
molecular pathology of the heart in Carvajal syndrome. We characterized gross and …
woolly hair, palmoplantar keratoderma, and heart disease. It is caused by a recessive
deletion mutation in desmoplakin, an intracellular protein that links desmosomal adhesion
molecules to intermediate filaments of the cytoskeleton. The pathology of Carvajal syndrome
has not been described. METHODS: Here, we report the first description of the structural and
molecular pathology of the heart in Carvajal syndrome. We characterized gross and …
