Key result
Histopathology and genetic testing revise presumed neonatal pericardial teratoma to TSC2-associated cardiac rhabdomyoma.
Why the study?
Fetal or neonatal cardiac tumors are rare, imaging findings are not absolute, and doubtful imaging can delay definitive diagnosis and management.
Case Report (n=1)
No
Histopathology and mutation analysis are crucial for diagnosing neonatal cardiac tumors and identifying underlying systemic conditions like tuberous sclerosis when echocardiography findings are ambiguous.
Answers are grounded in this paper and cite their sources.
Echocardiography may mislead in neonatal cardiac tumors; leaves open whether routine histopathology plus genetics should guide tuberous sclerosis evaluation.
Fetal or neonatal cardiac tumors are rarely encountered in neonatal practice. Moreover, these can be the earliest manifestation of underlying systemic conditions, such as tuberous sclerosis. Cardiac tumors are primarily diagnosed by characteristic findings in transthoracic echocardiography. However, these findings are not absolute, and histopathology remains the gold standard in diagnosing cardiac tumors. Sometimes, doubtful imaging findings can delay the diagnosis and initiation of definitive management. We describe a case of fetal and neonatal cardiac tumor where histopathology served as a benchmark in making a diagnosis and helped in identifying the underlying systemic disease.
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Sardar et al. (2023) conducted a case report in Neonatal cardiac rhabdomyoma associated with tuberous sclerosis complex-2 (TSC2) (n=1). Histopathological examination, TSC1/TSC2 mutation analysis, and sirolimus therapy was evaluated on Definitive diagnosis and clinical survival. Histopathology and genetic testing revised an initial imaging diagnosis of pericardial teratoma to TSC2-associated cardiac rhabdomyoma in a newborn who died of heart failure on day 32.
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