Cardiac involvement in Coffin-Lowry syndrome

Coffin-Lowry syndrome is an X-linked recessive syndrome of mental retardati on, characteristic facies and skeletal anomalies. In one patient with the s yndrome, we observed early recurrent episodes of congestive heart failure w ith intercurrent normalization and the late development of mitral insuffici ency due to annular dilation and congenital abnormalities of the valve appa ratus. This unusual course of cardiac involvement, the non-adaptation of th e left ventricular contractility to the aggravation of the mitral insuffici ency and the postoperative persistence of the ventricular dysfunction, unde rline the possible role of an associated primary myocardial disease. This c linical observation demonstrates clearly that a mitral valve malformation c an occur in patients with the syndrome, but also the role of a dilated card iomyopathy, which can be secondary to the mitral regurgitation, but is more likely a myocardial disorder occurring as part of the syndrome.