Implications of Hypertrophic Cardiomyopathy Transmitted by Sperm Donation
March 5th, 2010According to an October 21st, 2009 “brief report” in the Journal of American Medical Association (JAMA), a 23 year old male who had no personal knowledge of underlying heart disease repeatedly donated sperm over a 2-year period (1990-1991). This donor underwent standard testing that was negative for infectious diseases.
JAMA goes on to say “several years later, an offspring was diagnosed with HCH, which triggered the notification to all known recipients of this donor’s sperm that an inherited form of heart disease could have been transmitted to their children.” As a result, genetic testing was offered first to the donor and later to the offspring.
Twenty-two children are known to have been products of this sperm donation. Of these, 16 have been tested for the Arg169Gly mutation (associated with HCM) and 8 were positive. Eight other offsprings were tested and were negative.
However, 3 of these “positive” offspring had major health problems: 2 year old offspring died of HCM with intractable heart failure, 2 offspring had massive LV hypertrophy, as well as the donor with extensive myocardial fibrosis.
The donor also had two children conceived with his wife, one of these children tested positive for HCM.
The comment by doctors working on this case study remarked that they are aware of only one other documented instance in which a genetic disease was transmitted to an offsping by sperm donation.
While the FDA has regulated donor eligibility and sperm banks for compliance with the guidelines offered by the American Society of Reproductive Medicine and the American Association of Tissue Banks, its regulations for sperm banks have focused disproportionately on communicable diseases and not toward the detection of inherited cardiovascular diseases.
Available screening guidelines rely largely on obtaining a family history which is a strategy not likely to be particularly effective for those with HCM. HCM rarely has symptoms.
The answer from this group of physicians: Provide the public with information about this issue and instituting the possibility of screening strategies for donors to prevent future undesirable propatigation of genetic cardiovascular diseases such as HCM.
