Sperm donor passed on sudden death heart defect

Last Updated on October 24, 2009 by Joseph Gut – thasso

October 24, 2009 – Sperm donation is an increasingly common practice for achieving pregnancy in the absence of a male partner or when fertility is problematic. The unintended consequence in which genetic diseases are unwittingly transmitted to offspring is an underrecognized public health issue not previously prioritized by US Food and Drug Administration guidelines.

An asymptomatic 23-years old man who had no personal knowledge of underlying heart disease and who underwent standard testing that was negative for infectious diseases, repeatedly donated sperm over a 2-year period (1990-1991). The donor was later shown to be affected (in 2005) by a novel β-myosin heavy-chain mutation that caused hypertrophic cardiomyopathy (HCM), after an offspring was clinically diagnosed with this disease.

Of the 24 children known to be offsprings of the donor, including 22 children who were products of fertilization via sperm donation and 2 children conceived by the donor’s wife, a total of 9 genetically affected children, age 2 to 16 years (6 of them being male), have been identified with HCM.  Three of the 9 gene-positive children have currently expressed phenotypic manifestions of HCM, including one child who died at the age of 2 years due to progressive and unrelenting heart failure with marked hypertrophy, and also 2 survivors with extreme left ventricular hypertrophy at the age of 15 years. The latter two children and the donor are judged likely to be at increased risk for sudden death.

This case series underscore the potential risk for transmission of inherited cardiovascular diseases through voluntary sperm donation, a problem largely unappreciated by the medical community and agencies regulating tissue donation. Recommendations include improved screening guidelines for donors to exclude cardiovascular diseases (e.g., HCM) such as consideration for 12-lead electrocardiograms.

Hypertrophic cardiomyopathy (HCM) thickens the heart and makes it harder to pump blood. It affects about one in 500 people; many more likely have the genetic defect without symptoms, Symptoms can include an irregular heartbeat and shortness of breath but many cases go undetected until sudden death. The condition is often the culprit when young athletes collapse and die suddenly. Treatment includes medication and an implanted defibrillator to prevent sudden death.

Neither the sperm bank nor the donor were identified. The donor, now 42, had no symptoms of genetic heart disease and no obvious family history when he donated sperm in the early 1990s. His own condition wasn’t diagnosed until after a child born through sperm donation was diagnosed. Maron declined to provide more details on the donor’s health, citing privacy concerns.

Access the full study report at JAMA, the Journal of the American Medical Association.