Endocardial fibroelastosis can mimic dilated cardiomyopathy in neonates and may be associated with pathogenic genetic variants such as ELAC2.
May alert clinicians to rare neonatal cardiomyopathy causes; leaves open etiology and prevention strategies.
We report a case of a 20-day-old female child who was full-term born by emergency Caesarean section due to foetal distress. The baby had intermittent dyspnoea and was pronounced dead with unsuccessful resuscitation efforts in her admission to the hospital. Post-mortem examinations revealed dilated cardiomyopathy with endocardial fibroelastosis. Histologic examination of the heart showed mild endocardial fibroelastosis and sub-endocardial and interstitial increased elastin and collagen fibre deposition. Molecular testing was heterozygous for ELAC2 (pathogenic) and PRDM16 (variant of uncertain significance [VUS] genes. Other ancillary test results are non-contributory. Based on the autopsy findings, ancillary test results, and clinicopathological correlation, the cause of death is neonatal dilated cardiomyopathy (DCM).
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Siddique et al. (2023) studied this question.
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