Endocardial fibroelastosis: Family studies withspecial reference to counseling

Update on counseling the family with a first‐degree relative with a congenital heart defect

“…The reason for dividing recurrence risks in sibs into two decades beginning with 1966 was that this was the time that we first published data on specific heart defects, as opposed 'Chen et al, 1971; JHolmes et al,…”

Contracted form of endocardial fibroelastosis in two siblings

“…The etiology and pathogenesis of primary endocardial fibroelastosis remain obscure. Familial occurrence of the dilated 2 , 3 and contracted 4 forms of endocardial fibroelastosis have been reported, which may support the possibility of a genetic predisposition to these conditions. In the contracted form of endocardial fibroelastosis described herein, a simple autosomal‐recessive inheritance mechanism is possible, but not likely, because it would require the mating of two carriers of this condition in two successive generations.…”

“…The left ventricular cavity is enlarged in the dilated form, whereas it is normal or small in the contracted form. Several investigators have reported the dilated form of endocardial fibroelastosis occurring siblings 2 , 3 . In contrast, to our knowledge, only one report of a familial occurrence of the contracted form has been previously published 4 .…”

“…Several investigators have reported the dilated form of endocardial fibroelastosis occurring siblings. 2,3 In contrast, to our knowledge, only one report of a familial occurrence of the contracted form has been previously published. 4 We describe two siblings with the contracted form of endocardial fibroelastosis.…”

Prenatal sonographic diagnosis of endocardial fibroelastosis secondary to aortic stenosis

“…These patients are at risk, in the following pregnancies, for developing EFE (Rowe et a/., 1981). The recurrence risk in primary EFE is approximately 5 per cent (Child and Dennis, 1977;Chen et al, 1971). In the case of secondary EFE, recurrence risk estimates should take account of the (presumably) primary struc-tural defect, in this case aortic stenosis.…”