Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome

LEOPARD syndrome (multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness) is a rare inherited disease. Mutations in the PTPN11 and RAF-1 genes have been reported in patients with LEOPARD syndrome. Although the clinical course is generally favourable, a number of sudden cardiac deaths have been reported in association with this syndrome. Patients with hypertrophic cardiomyopathy (HCM) have potentially a higher risk of developing severe cardiac complications during follow-up. Here, we describe a family (mother and daughter) with clinical and molecular diagnosis of LEOPARD syndrome 1 and HCM (mild, non obstructive HCM in the mother; severe, obstructive HCM in the daughter), and we report the prenatal diagnosis of a severe HCM in a fetus at risk for LEOPARD syndrome