title: Hypertrophic obstructive cardiomyopathy as a manifestation of a cardiocutaneous syndrome (Noonan syndrome).
abstract: The case of a 50-year-old patient with hypertrophic obstructive cardiomyopathy is reported. The patient demonstrated somatic signs of the Turner phenotype, but a cytogenetically normal karyotype was shown. These findings were compatible with the diagnosis of Noonan syndrome. The most commonly diagnosed cardiac disease in this syndrome is pulmonary stenosis, followed by hypertrophic cardiomyopathy. The patient's prognosis is limited by the natural history or the typical complications of the underlying cardiac lesion.
authors.affiliation: Medizinische Klinik II, Universität Erlangen-Nürnberg.
authors.forename: G
authors.initials: G
authors.lastname: Pongratz
authors.forename: M
authors.initials: M
authors.lastname: Friedrich
authors.forename: M
authors.initials: M
authors.lastname: Unverdorben
authors.forename: B
authors.initials: B
authors.lastname: Kunkel
authors.forename: K
authors.initials: K
authors.lastname: Bachmann
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000235:genetics; D004452:Echocardiography; D005640:Follicle Stimulating Hormone / Q000097:blood; D006346:Heart Septum / Q000473:pathology; D006352:Heart Ventricles / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D007986:Luteinizing Hormone / Q000097:blood; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype
chemical_list: D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone