Which cardiac and circulatory problems are associated with Klinefelter syndrome?

Updated: Mar 23, 2020
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Mitral valve prolapse occurs in 55% of patients. Varicose veins occur in 20-40% of patients. The prevalence of venous ulcers is 10-20 times higher than in healthy individuals, and the risk of deep vein thrombosis and pulmonary embolism is increased.

A Swedish study found the standardized incidence ratio for venous thromboembolism (VTE) in Klinefelter syndrome to be 6.43, with a ratio of 12.10 in persons younger than age 30 years and 2.07 in persons aged 70 years or older. Based on the study's findings, an association exists between Klinefelter syndrome and a high risk for VTE. The authors suggest that Klinefelter syndrome could be recognized as a genetic hypercoagulable state. [30]

A study by Chang et al also found the thrombosis risk to be higher in Klinefelter syndrome, with hazard ratios for VTE and total thrombotic death, as measured against a comparison cohort, being 3.95 and 1.76, respectively. The investigators also reported an insignificant decrease in venous thromboembolism and thrombotic deaths in patients who received testosterone treatment. [31]

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