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

Limongelli, Giuseppe and Pacileo, Giuseppe and Russo, Maria Giovanna and Sarkozy , Anna and Felicetti, Maria and Di Salvo, Giovanni and Morelli, Carmela and Calabrò, Paolo and Paladini, Dario and Marino, Bruno and Dalla Piccola, Bruno and Calabrò, Raffaello (2008) Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome. Journal of prenatal medicine, 2 (2). pp. 24-26. ISSN 1971-3290

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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.

Item Type: Article
Uncontrolled Keywords: Prenatal diagnosis; LEOPARD syndrome; hypertrophic cardiomyopathy; natural history
Subjects: 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 618 Altri rami della medicina; Ginecologia e ostetricia, Pediatria, Geriatria > 618.3 Malattie e complicazioni della gravidanza
Depositing User: Gianni Aiello
Date Deposited: 10 Feb 2014 17:09
Last Modified: 10 Feb 2014 17:10

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