title: Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome.
abstract: OBJECTIVE
  Leopard syndrome is an acronym (multiple Lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) describing an autosomal dominant disease due to mutations in the raS-MapK pathway.
  
  
  METHODS
  Here, we describe a family (mother and daughter) with clinical and molecular diagnosis of Leopard syndrome 1 and HCM, and we report the prenatal diagnosis of HCM in a fetus at risk for Leopard syndrome.
  
  
  RESULTS
  An echocardiography was conducted showing a significant hypertrophy of both ventricles (left and right ventricular wall thickness 9mm and 3 mm). After a multidisciplinary counseling the couple opted for the termination of pregnancy
  
  
  CONCLUSIONS
  Further genotype-phenotype studies are warranted to fully elucidate the impact of the genotype on the natural history of patients with LS and LVH.
authors.affiliation: Chair of Cardiology, Second University of Naples, Monaldi Hospital.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Limongelli
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Pacileo
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Russo
authors.forename: Anna
authors.initials: A
authors.lastname: Sarkozy
authors.forename: Maria
authors.initials: M
authors.lastname: Felicetti
authors.forename: Giovanni
authors.initials: G
authors.lastname: Di Salvo
authors.forename: Carmela
authors.initials: C
authors.lastname: Morelli
authors.forename: Paolo
authors.initials: P
authors.lastname: Calabrò
authors.forename: Dario
authors.initials: D
authors.lastname: Paladini
authors.forename: Bruno
authors.initials: B
authors.lastname: Marino
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Raffaele
authors.initials: R
authors.lastname: Calabrò