title: Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first case.
abstract: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease that may cause premature sudden death, especially in teenagers and young adults. The recent progress in the molecular genetics of the disease has made genetic testing sometimes available in clinical practice. We report the case of a couple who still requested prenatal molecular testing after detailed information had been given through a multidisciplinary consultation. Prenatal diagnosis in HCM is associated with complex medical and psychological implications, in addition to general ethical considerations, as the potential value of the diagnosis is counterbalanced by the highly variable expression of the disease and the difficulty in predicting its evolution. The R403L mutation in the MYH7 gene had been previously identified in this family, characterized by a malignant form of HCM. In the specific context of this case, we decided to agree to the request of the parents and performed the prenatal diagnosis. To the best of our knowledge, this is the first report of a prenatal molecular diagnosis performed in the context of HCM.
authors.affiliation: Département de Génétique, Cytogénétique et Embryologie, Hôpital Pitié-Salpêtrière, Paris, France. pcharron@infobiogen.fr
authors.forename: Philippe
authors.initials: P
authors.lastname: Charron
authors.forename: Delphine
authors.initials: D
authors.lastname: Héron
authors.forename: Marcela
authors.initials: M
authors.lastname: Gargiulo
authors.forename: Josué
authors.initials: J
authors.lastname: Feingold
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Oury
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.forename: Michel
authors.initials: M
authors.lastname: Komajda
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D024723:Ventricular Myosins / Q000235:genetics*
chemical_list: D024723:Ventricular Myosins