Key result
Cantu syndrome in a mother and her two daughters was associated with cardiac involvement in all three patients, further confirming autosomal dominant inheritance.
Case Report (n=3)
This case series provides further evidence for autosomal dominant inheritance of Cantu syndrome and highlights the importance of monitoring for severe cardiac manifestations like pericardial effusions.
Suggests cardiac monitoring in Cantu syndrome families; supports autosomal dominant inheritance but remains hypothesis-generating.
Cantu syndrome, or hypertrichosis-osteodysplasia-cardiomegaly syndrome, is a rare disorder of unknown etiology, associated with hypertrichosis, characteristic facial features, skeletal abnormalities, cardiomegaly, and occasional pericardial effusions. Although autosomal recessive inheritance was originally proposed, a man with three affected children has been reported, making autosomal dominant inheritance likely. We report on a woman and her two daughters with Cantu syndrome, further confirming dominant inheritance. All three of our patients have cardiac involvement, and symptomatic pericardial effusions requiring surgical intervention occurred in the mother and one of her daughters. Chromosome microarray analysis was normal in one of the girls. The etiology of the cardiomegaly and pericardial effusions in Cantu syndrome is unknown. We review all previously reported cases of Cantu syndrome and the associated cardiac manifestations.
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Grange et al. (2006) conducted a case report in Cantu syndrome (n=3). Cantu syndrome was evaluated. Cantu syndrome in a mother and her two daughters was associated with cardiac involvement in all three patients, further confirming autosomal dominant inheritance.
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