Sunday, April 13, 2008

Study - Half of All Childhood Cases of Cardiomyopathy are Genetic

According to a study published online, April 10, 2008 in the New England Journal of Medicine, childhood cases of hypertrophic cardiomyopathy (enlarged heart muscle), are the result of genetic predisposition. The findings have prompted recommendations that all first-degree relatives of children affected with cardiomyopathy receive prompt genetic analysis.

According to senior author, Dr Jon Seidman (Harvard Medical School), approximately half of the children who present with childhood cardiomyopathy have exactly the same gene mutations as those seen in adults. He points out that a large number of those children have no family history of the disease. He explains: The answer is that in about one-third of cases, the mutation has arisen for the first time in the child (de novo), he explains, and in the other two-thirds, "their parents just haven't shown any sign of the disease yet." This makes testing especially important for siblings in order to provide early prevention and treatment if they also possess the same heart damaging genes.

One problem is the cost of testing - $2500 to $3000. The initial test must explore over 30,000 bases of DNA. Once the familial genes are targeted, other family members would test less expensively, looking for the already targeted gene.

Cardiomyopathy in children causes the same health problems, regardless of the cause. The importance of the study lies in the opportunity for prevention and screening of family members who are also at risk - "While there is no cure for hypertrophic cardiomyopathy, there are both preventive and therapeutic interventions that cardiologists can employ that can prolong life and improve quality of life, according to Dr. Seidman. ◦