Aortic root dilatation with redundancy of mitral and aortic leaflets associated with the LEOPARD syndrome

Abstract

The most common cardiac manifestation of the LEOPARD syndrome (cardiocutaneous lentiginosis) is valvular pulmonary stenosis [ [1] Gorlin R.J. Anderson R.C. Blaw M. Multiple lentigines syndrome. Am J Dis Child. 1969; 117: 652-662 Crossref PubMed Scopus (241) Google Scholar ]. Other cardiac defects known to be associated with this syndrome include subaortic stenosis, subpulmonary stenosis, mitral valve abnormalities, hypertrophic cardiomyopathy (HCM), atrial septal defect and atrial myxomas [ [2] Somerville J. Bonham-Carter R.E. The heart in lentiginosis. Br Heart J. 1972; 34: 58-66 Crossref PubMed Scopus (58) Google Scholar ]. Dilatation of the aortic root and redundant cardiac valvular leaflets is not known to be associated with the LEOPARD syndrome. We present a middle-aged gentleman who had a strong family history of the LEOPARD syndrome, typical physical features who was found to have moderate aortic root dilatation associated with redundant mitral and aortic valve leaflets.