title: Hypertrophic cardiomyopathy in a patient of Klinefelter syndrome--a rare association.
abstract: A 36-year-old man presented with exertional dyspnoea and chest pain. He also had sexual dysfunction with poorly developed secondary sex characteristics. Echocardiography and thorough cardiac evaluation revealed obstructive hypertrophic cardiomyopathy. Hormonal profile suggested primary hypogonadism and cytogenetics report suggested a karyotype, 47, XXY, in all counted cells, consistent with the diagnosis of Klinefelter syndrome. He is being managed with beta-blocker and androgen replacement therapy.
authors: Department of Medicine, Combined Military Hospital, Malir Cantt, Karachi. shahidahmed833@hotmail.com
authors: Shahid
authors: S
authors: Ahmed
authors: Shahid
authors: S
authors: Hafeez
authors: Nadir
authors: N
authors: Ali
authors: Taimoor
authors: T
authors: Ahmed
mesh_terms: D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use; D000328:Adult; D000728:Androgens / Q000172:deficiency / Q000627:therapeutic use; D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging / Q000209:etiology*; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000150:complications* / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D008790:Metoprolol / Q000627:therapeutic use; D012307:Risk Factors; D013739:Testosterone / Q000031:analogs & derivatives / Q000627:therapeutic use; D014463:Ultrasonography
chemical_list: D000319:Adrenergic beta-Antagonists; D000728:Androgens; D013739:Testosterone; C004648:testosterone enanthate; D008790:Metoprolol