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Sperm Donor Passed On Heart Defect To Children

October 21, 2009

A sperm donor with an undetected genetic heart defect passed on the condition to nine of his 24 children, one of whom died at the age of 2 from the condition.

The genetic mutation linked to heart disease, known as hypertrophic cardiomyopathy, was detected after the donor had passed it on to one of his offspring, who tested positive for it, Barry J. Maron, MD, of Abbott Northwestern Hospital in Minneapolis, wrote in the Journal of the American Medical Association.

Researchers noted that two other children have also developed symptoms and are at risk of sudden cardiac death. Nine of the children, aged 7 to 16, have tested positive for the mutation, including one born to the donor’s wife.

Hypertrophic cardiomyopathy causes the heart to thicken, thus making it more difficult to pump blood. It is found in about one in 500 people, although more have the genetic defect without any visible symptoms, including shortness of breath and irregular heartbeat.

The sperm bank in San Francisco where the man donated now uses electrocardiogram examinations to determine the existence of genetic heart disease.

Authors of the study have recommended that other sperm banks use the same tests with each of their donors.

The report marks the only the second time that an inherited disease has been documented through sperm donation. The first case involved a rare blood disease.

The donor was an asymptomatic 23-year-old man who had no knowledge of underlying heart disease at the time of his donation in 1990-1991.

He was not diagnosed with the disease until 2005.

“This case series underscores 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,” researchers wrote.

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