Cardiac tumors causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dheeraj Makkar, M.D.[2]

Overview

  • Numerous genetic disorders are associated with cardiac tumors however, till now no direct causes have been identified.

Causes

  • Many genetic conditions are strongly associated with a large number of heart tumors. Some of them are as follows:[1]
Cardiac tumors genetic causes
Tumor Syndrome Gene Associated with syndrome
Rhabdomyoma Tuberous Sclerosis TSC1 or hamartin

TSC2 or tuberin

Fibroma Gorlin Syndrome PATCHED gene
Myxoma Carney Complex Inactivating mutation of PRKARA1A

Activating pathogenic variant of PRKACA gene

Paraganglioma Carney triad No known gene associations
Paraganglioma Hereditary Paraganglioma Mutation of succinate dehydrogenase subunit

SDHAF2 gene, and possibly MAX gene but these mutations are rare

Paraganglioma Von Hippel Lindau VHL gene
Paraganglioma Neurofibromatosis type 1 NF1 gene


References

  1. Lee E, Mahani MG, Lu JC, Dorfman AL, Srinivasan A, Agarwal PP (2018). "Primary cardiac tumors associated with genetic syndromes: a comprehensive review". Pediatr Radiol. 48 (2): 156–164. doi:10.1007/s00247-017-4027-2. PMID 29214333.

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