Tricuspid atresia causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor-In-Chief:;Sara Zand, M.D.[2] Keri Shafer, M.D. [3] Priyamvada Singh, MBBS [4]; Assistant Editor-In-Chief: Kristin Feeney, B.S. [5]
Overview
- genes mutation which is responsible for disruption in tricuspid valvogenesis include:
- A missense mutation in RASA1 that is responsible for the regulation of Ras/ERK cascade.
- A missense mutation in NFATC1 which downregulates the Ras/ERK pathway.[1]
- Familial recurrence of tricuspid atresia is rare.[2]
- Few cases of an autosomal recessive pattern of inheritance are reported.[3]
References
- ↑ Nozari A, Aghaei-Moghadam E, Zeinaloo A, Alavi A, Ghasemi Firouzabdi S, Minaee S, Eskandari Hesari M, Behjati F (April 2019). "A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family". Cell J. 21 (1): 70–77. doi:10.22074/cellj.2019.5734. PMC 6275424. PMID 30507091.
- ↑ Abdul-Sater Z, Yehya A, Beresian J, Salem E, Kamar A, Baydoun S, Shibbani K, Soubra A, Bitar F, Nemer G (2012). "Two heterozygous mutations in NFATC1 in a patient with Tricuspid Atresia". PLoS ONE. 7 (11): e49532. doi:10.1371/journal.pone.0049532. PMC 3511479. PMID 23226213.
- ↑ Ellesøe SG, Workman CT, Bouvagnet P, Loffredo CA, McBride KL, Hinton RB, van Engelen K, Gertsen EC, Mulder B, Postma AV, Anderson RH, Hjortdal VE, Brunak S, Larsen LA (March 2018). "Familial co-occurrence of congenital heart defects follows distinct patterns". Eur. Heart J. 39 (12): 1015–1022. doi:10.1093/eurheartj/ehx314. PMC 6018923. PMID 29106500. Vancouver style error: initials (help)