Implications of Hypertrophic Cardiomyopathy Transmitted by Sperm Donation

Further information: Hypertrophic Cardiomyopathy (see p1261) and Muscular Dystrophies Affecting the Heart (see p2567) from Cardiovascular Medicine, 3rd Edn*

Over the past 25 years, infertility has become an increasing problem in the US as couples have delayed marriage and childbearing years. Among other efforts to solve infertility issues, sperm banks have been created to provide a woman a means to achieve pregnancy when her partner is infertile. The Food and Drug Administration (FDA) has in place an inspection process for the purpose of preventing the spread of infectious diseases, but at this time, there is no screening process to identify genetic diseases.

The authors of this paper [1] have provided a brief report of a case report that involved sperm donation and inherited heart diseases, in this case, hypertrophic cardiomyopathy (HCM). Because the donor’s contract with a sperm bank was for a 2-year period, and there were no restrictions as to the number of pregnancies permitted for the donor, 22 children were produced (13 families, including his own) and nine were positive for the HCM mutation. The donor in this report was healthy and had no prior knowledge of his underlying heart disease. The currently used standard testing procedure prior to sperm donation revealed no negative results, and the donor’s disease was not identified until after the disease was identified in his offspring. An important conclusion reached from this study stressed the significant value of a genetic screening requirement for sperm donors.

[1] Maron BJ, Lesser JR, Schiller NB. Implications of hypertrophic cardiomyopathy transmitted by sperm donation. JAMA 2009;302:1681-4

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1 Comment so far

  1. Dr James Willerson March 2nd, 2010 10:28 pm

    Very important insights and ones that I hope will lead to more care in the selection of sperm donors with medical screening.

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