Mothers' Heart Problems Linked To Muscular Dystrophy
Heart problems observed in mothers of sons with Duchenne and Emery-Dreifuss muscular dystrophy.
With the present fragmentation in U.S. medical care, mothers of sons with Duchenne muscular dystrophy and Emery-Dreifuss muscular dystrophy are at risk for having undetected cardiac problems if they are carriers of the gene. Unfortunately, taking a good family history seems to be a lost art, so the physicians caring for boys with either of these disorders may not ask questions about the mother’s health. An internist or family doctor caring for the mothers may not know the women have sons with one of these disorders.
I had a teenager with the sex-linked form of Emery-Dreifuss muscular dystrophy in my office one day. On looking at his forty-five-year-old mother, she seemed ill. On asking how she was feeling, the mother admitted she was having chest pain and shortness of breath. I insisted that she immediately see a cardiologist. She did see one right away, but was told he could not find any problems. I urged the mother to see another cardiologist. She did this and he also sent her on her way. Finally, in despair the woman saw a cardiologist in a prestigious university medical center. He, too, dismissed her without any treatment or suggestions.
Not too long after this I received a call that the mother had been found dead in bed. The family were willing that an autopsy done and marked cardiac changes were found. On receiving the news of the autopsy, I called the cardiologist in the university medical center to ask what his findings had been. He replied that he had found “nothing remarkable and the woman was welcome to see him again if she needed to do so”. When I told him his patient had been found dead in bed and had marked cardiac findings on the autopsy, the doctor made no comment.
Charlotte E. Thompson, M.D.