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Clinical Pediatrics, Vol. 25, No. 5, 272-275 (1986)
DOI: 10.1177/000992288602500508

Inheritance of Familial Primary Endocardial Fibroelastosis

Aaron Hanukoglu

From the Department of Pediatrics, The Sackler Faculty of Medicine, Tel-Aviv University, The Edith Wolfson Hospital, Holon 58100, Israel

Daniel Fried

From the Department of Pediatrics, The Sackler Faculty of Medicine, Tel-Aviv University, The Edith Wolfson Hospital, Holon 58100, Israel

Eli Somekh

From the Department of Pediatrics, The Sackler Faculty of Medicine, Tel-Aviv University, The Edith Wolfson Hospital, Holon 58100, Israel

Two related families with 15 children, seven of whom developed endocardial fibroelastosis (EFE) are described. Three of the children died during infancy, and the disease was confirmed in one of them at autopsy. The survivors, two sisters age 5 years and 15 months (Family A) and two sisters age 17 and 14 years (Family B), are now symptomless and show a decrease in left ventricular hypertrophy. The mode of inheritance of EFE in our two families appears to be either autosomal or X-linked dominant with reduced penetrance.


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