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