Impaired systolic function in Loeys-Dietz syndrome: a novel cardiomyopathy?

Loeys-Dietz syndrome (LDS) is a recently described autosomal dominant genetic syndrome caused by mutations in the gene encoding transforming growth factorreceptor 1 or 21 with no known cardiac involvement. Common characteristics include aortic and arterial aneurysms or dissections, orbital hypertelorism, and cleft palate or bifid uvula. We report the first case of a cardiomyopathy associated with LDS in a patient with a novel transforming growth factorreceptor mutation and pathological evidence of microvascular coronary artery dysplasia.