Familial occurrence of the contracted form of endocardial fibroelastosis

A family is presented in which the contracted form of endocardial fibroelastosis occurred in 2, possibly 3 generations. The family pedigree suggested a sex-linked recessive mode of inheritance. The 2 infants personally studied presented with severe heart failure and generalized edema and marked cardiomegaly. The electrocardiograms exhibited isolated right ventricular hypertrophy. Cardiac catheterization revealed severe pulmonary venous obstruction. Cineangio-cardiograms demonstrated normal left ventricular volume changes. Unresponsive heart failure with the hemodynamic evidence of mitral valve disease prompted cardiac surgery that was unsuccessful. Pathologically diffuse endocardial fibroelastosis involved all heart chambers. In contrast to the commoner dilated form of endocardial fibroelastosis, the left ventricular cavities were normal or mildly enlarged. This lesion is differentiated from other forms of pulmonary venous obstruction by elevation of the left ventricular end diastolic pressure level and absence of a diastolic pressure gradient distal to the pulmonary veins in fibroelastosis. Such differentiation is important because surgical treatment of contracted endocardial fibroelastosis has been uniformly unsuccessful.