Rhabdomyoma causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Nima Nasiri, M.D.[2]
Overview
Rhabdomyoma is a benign tumor of striated muscle. Rhabdomyomas are rare and can be classified into cardiac type and extracardiac type. The most common primary benign pediatric tumor of the heart is cardiac rhabdomyoma which can be seen mainly in fetal life and children, the second most common primary benign cardiac tumor in children is fibroma. Most tumors regress spontaneously, prognosis depends on the location of tumor and size. Cardiac rhabdomyoma is strongly associated with tuberous sclerosis.
Causes
- Adult rhabdomyomas are matured neoplasms of clonal origin.
- Cardiac rhabdomyoma may be caused by either sporadic mutation or in the setting of certain genetic disorders.[1]
- The genetic disorder commonly associated with cardiac rhabdomyoma is tuberous sclerosis.[2] Other genetic disorders associated with cardiac rhabdomyomas include basal cell nevus syndrome and Down syndrome in the setting of tuberous sclerosis.[3][4]
- The familial form of tuberous sclerosis are hamartomas that can involve the kidneys, heart, skin, brain, and other organs.
- Cardiac rhabdomyoma can be the only presenting sign of tuberous sclerosis and there are strongly related, in fact, tuberous sclerosis in a fetus can be detected as cardiac rhabdomyoma on ultrasound.[5]
- Molecular evidence of this association has been identified as the TSC2 gene missense mutation.
- Cardiac rhabdomyoma is caused by a mutation in the TSC1 on chromosome 9q34 that encodes for protein hamartin, and TSC2 on 16p13 that encodes for tuberin. These genes are both tumor suppressor genes that assist in the regulation of growth and differentiation of developing cardiomyocytes[6]
References
- ↑ Burke A, Virmani R (2008). "Pediatric heart tumors". Cardiovasc Pathol. 17 (4): 193–8. doi:10.1016/j.carpath.2007.08.008. PMID 18402818.
- ↑ Vaughan CJ, Veugelers M, Basson CT (2001). "Tumors and the heart: molecular genetic advances". Curr Opin Cardiol. 16 (3): 195–200. PMID 11357016.
- ↑ Isaacs H (2004). "Fetal and neonatal cardiac tumors". Pediatr Cardiol. 25 (3): 252–73. doi:10.1007/s00246-003-0590-4. PMID 15360117.
- ↑ Krapp M, Baschat AA, Gembruch U, Gloeckner K, Schwinger E, Reusche E (1999). "Tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: case report and review of literature". Prenat Diagn. 19 (7): 610–3. PMID 10419607.
- ↑ Sharma N, Sharma S, Thiek JL, Ahanthem SS, Kalita A, Lynser D (2017). "Maternal and Fetal Tuberous Sclerosis: Do We Know Enough as an Obstetrician?". J Reprod Infertil. 18 (2): 257–260. PMC 5565905. PMID 28868251.
- ↑ Goldenberg DL (November 1989). "A review of the role of tricyclic medications in the treatment of fibromyalgia syndrome". J Rheumatol Suppl. 19: 137–9. PMID 2691673.