This case series is the first to report the association of congenital mitral incompetence and coarctation of the abdominal aorta in a familial cluster.
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Hypothesis-generating for novel familial syndrome of congenital mitral incompetence with abdominal aortic coarctation; requires validation and genetic studies.
Congenital mitral incompetence has been only rarely reported as an isolated lesion (Miller, Brown, and Swan, 1964), but may occur as a result of endo- cardial fibro-elastosis, which is also commonly associated with other anatomical abnormalities, of which coarctation of the aorta is one. The associa- tion of congenital mitral incompetence and coarcta- tion of the abdominal aorta has not been reported previously, so we are presenting a family of 3 sibs who had this association of defects. The patho- logical findings are given in some detail, and the pathology of endocardial fibro-elastosis is reviewed.
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Hallidie-Smith et al. (1968) studied this question.
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