Tricuspid atresia causes
Tricuspid atresia Microchapters |
Diagnosis |
---|
Treatment |
Special Scenarios |
Case Studies |
Tricuspid atresia causes On the Web |
American Roentgen Ray Society Images of Tricuspid atresia causes |
Risk calculators and risk factors for Tricuspid atresia causes |
Please help WikiDoc by adding content here. It's easy! Click here to learn about editing.
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
- Disruption tricuspid valvogenesis due to mutation in some genes 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.
- Few cases of an autosomal recessive pattern of inheritance are reported.
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.