Key result
A pedigree of six male infants who died of cardiac failure suggests an X-linked recessive cardiomyopathy associated with endomyocardial fibroelastosis and mitochondrial abnormalities.
Case Report (n=6)
This report suggests that some cases of endomyocardial fibroelastosis may be caused by an X-linked recessive cardiomyopathy associated with mitochondrial abnormalities.
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May support X-linked inheritance in familial endomyocardial fibroelastosis; hypothesis-generating and leaves open mitochondrial role.
We report a pedigree in which six males died of cardiac failure within the first eight months of life. These males were related through healthy females, as with X linked recessive inheritance. There was no consanguinity. None of the affected boys had an anatomical cardiac abnormality. In two affected brothers, histological evidence for endomyocardial fibroelastosis was documented, and in one of these electron microscopy demonstrated abnormalities of the mitochondria as found in mitochondrial cytopathy. A review of published reports revealed five similar X linked pedigrees, and in two of these mitochondrial abnormalities were found. We suggest that these families may show an X linked recessive cardiomyopathy with mitochondrial abnormalities.
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Hodgson et al. (1987) conducted a case report in Endocardial fibroelastosis (n=6). X-linked recessive inheritance was evaluated on Cardiac failure and death. A pedigree of six male infants who died of cardiac failure suggests an X-linked recessive cardiomyopathy associated with endomyocardial fibroelastosis and mitochondrial abnormalities.
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