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Frequency of congenital heart defects in patients with hemophilia
K B Jedele1, V V Michels, H Gordon
1Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905.
Insights
Vascular events in early development may influence heart formation. This study found no increased congenital heart defect (CHD) risk in hemophilia patients or their families, suggesting vascular events are not a primary cause of CHD.
Area of Science:
- Developmental Biology
- Genetics
- Cardiology
Background:
- Congenital heart defects (CHD) are often multifactorial with unknown causes.
- Vascular events, like embryonic hemorrhage, are hypothesized to impact heart development.
- Investigating CHD frequency in bleeding disorders can test this hypothesis.
Abstract:
Most structural congenital heart defects (CHD) are thought to be multifactorially determined, but the precise causal factors usually are unknown. One may postulate that vascular events, such as hemorrhage in the developing embryo, could influence morphogenesis of the heart. One method of studying this hypothesis is to determine the frequency of CHD in persons with heritable bleeding diatheses and their families. We reviewed retrospectively medical and family histories of 120 hemophilia A and 14 hemophilia B patients seen in our Genetics Department. The family histories included 1,126 maternal relatives of hemophiliac patients. We also reviewed the family histories of 138 patients with X-linked disorders who did not have bleeding diatheses or syndromes associated with CHD; these histories included 960 maternal relatives. There was one confirmed case of a CHD in 134 hemophilia patients, giving a frequency of 0.75% compared to 0.8% in the general population at birth. There was no apparent difference in the frequency of CHD in hemophilia A and B patients compared to the general population or in the relatives of hemophilia patients as compared to control individuals.