title: [Hypertrophic cardiomyopathy (probably secondary) in an infant with Stickler's syndrome. The physiopathological aspects].
abstract: Stickler syndrome is a hereditary connective tissue disease transmitted by AD pattern. It is characterized by peculiar facies with bone and ocular anomalies. Heart anomalies (except mitral valve prolapse) are an uncommon features that may be associated. The authors report on a 4 months patient affected by this syndrome who had hypertrophic cardiomyopathy. Pathogenetic mechanism of this anomaly is discussed.
authors.affiliation: Servizio Autonomo di Cardiologia Pediatrica, Policlinico, Università di Catania, Italia.
authors.forename: G
authors.initials: G
authors.lastname: Distefano
authors.forename: R
authors.initials: R
authors.lastname: Falsaperla
authors.forename: P
authors.initials: P
authors.lastname: Sciacca
authors.forename: G
authors.initials: G
authors.lastname: Sorge
authors.forename: M G
authors.initials: MG
authors.lastname: Parisi
authors.forename: F
authors.initials: F
authors.lastname: Greco
authors.forename: L
authors.initials: L
authors.lastname: Pavone
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000503:physiopathology*; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D003240:Connective Tissue Diseases / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D005128:Eye Diseases / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007592:Joint Diseases / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D008297:Male; D013577:Syndrome
vernacular_title: Cardiomiopatia ipertrofica (probabilmente secondaria) in un lattante con sindrome di Stickler. Aspetti fisiopatologici.