Tricuspid atresia causes: Difference between revisions
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'''Associate Editor-In-Chief:''' [[User:KeriShafer|Keri Shafer, M.D.]] [mailto:kshafer@bidmc.harvard.edu] [[Priyamvada Singh|Priyamvada Singh, MBBS]] [[mailto: | {{CMG}}'''Associate Editor-In-Chief:''';{{Sara.Zand}} [[User:KeriShafer|Keri Shafer, M.D.]] [mailto:kshafer@bidmc.harvard.edu] [[Priyamvada Singh|Priyamvada Singh, MBBS]] [mailto:psingh13579@gmail.com]; '''Assistant Editor-In-Chief:''' [[Kristin Feeney|Kristin Feeney, B.S.]] [mailto:kfeeney@elon.edu] | ||
==Overview== | |||
Some Genes mutation in tricuspid valvopathy includes : [[missense mutation]] in RASA1 that regulates Ras/ERK cascade, a missense mutation in NFATC1 that downregulates the Ras/ERK pathway. Familial recurrence of [[tricuspid atresia]] is rare. Few cases of an [[autosomal recessive]] pattern of inheritance are reported. | |||
==[[Tricuspid atresia]] causes== | |||
* Some Genes mutation in tricuspid valvopathy include: | |||
** A [[missense mutation]] in RASA1 that regulates Ras/ERK cascade.<ref name="pmid20039031">{{cite journal |vauthors=Chakraborty S, Combs MD, Yutzey KE |title=Transcriptional regulation of heart valve progenitor cells |journal=Pediatr Cardiol |volume=31 |issue=3 |pages=414–21 |date=April 2010 |pmid=20039031 |pmc=2837124 |doi=10.1007/s00246-009-9616-x |url=}}</ref> | |||
** A missense mutation in NFATC1 that downregulates the Ras/ERK pathway.<ref name="pmid30507091">{{cite journal |vauthors=Nozari A, Aghaei-Moghadam E, Zeinaloo A, Alavi A, Ghasemi Firouzabdi S, Minaee S, Eskandari Hesari M, Behjati F |title=A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family |journal=Cell J |volume=21 |issue=1 |pages=70–77 |date=April 2019 |pmid=30507091 |pmc=6275424 |doi=10.22074/cellj.2019.5734 |url=}}</ref> | |||
* Familial recurrence of tricuspid atresia is rare.<ref name="pmid23226213">{{cite journal |vauthors=Abdul-Sater Z, Yehya A, Beresian J, Salem E, Kamar A, Baydoun S, Shibbani K, Soubra A, Bitar F, Nemer G |title=Two heterozygous mutations in NFATC1 in a patient with Tricuspid Atresia |journal=PLoS ONE |volume=7 |issue=11 |pages=e49532 |date=2012 |pmid=23226213 |pmc=3511479 |doi=10.1371/journal.pone.0049532 |url=}}</ref> | |||
* Few cases of an autosomal recessive pattern of inheritance are reported.<ref name="pmid29106500">{{cite journal |vauthors=Ellesøe SG, Workman CT, Bouvagnet P, Loffredo CA, McBride KL, Hinton RB, van Engelen K, Gertsen EC, Mulder BJM, Postma AV, Anderson RH, Hjortdal VE, Brunak S, Larsen LA |title=Familial co-occurrence of congenital heart defects follows distinct patterns |journal=Eur. Heart J. |volume=39 |issue=12 |pages=1015–1022 |date=March 2018 |pmid=29106500 |pmc=6018923 |doi=10.1093/eurheartj/ehx314 |url=}}</ref> | |||
==References== | ==References== | ||
{{reflist}} | {{reflist|2}} | ||
[[Category:Needs content]] | |||
[[Category:Cardiovascular system]] | [[Category:Cardiovascular system]] | ||
[[Category:Cardiology]] | [[Category:Cardiology]] | ||
[[Category:Congenital heart disease]] | [[Category:Congenital heart disease]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
[[Category:Disease]] | |||
[[Category:Cardiovascular diseases]] | |||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
Latest revision as of 15:35, 8 November 2020
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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
Some Genes mutation in tricuspid valvopathy includes : missense mutation in RASA1 that regulates Ras/ERK cascade, a missense mutation in NFATC1 that downregulates the Ras/ERK pathway. Familial recurrence of tricuspid atresia is rare. Few cases of an autosomal recessive pattern of inheritance are reported.
Tricuspid atresia causes
- Some Genes mutation in tricuspid valvopathy include:
- A missense mutation in RASA1 that regulates Ras/ERK cascade.[1]
- A missense mutation in NFATC1 that downregulates the Ras/ERK pathway.[2]
- Familial recurrence of tricuspid atresia is rare.[3]
- Few cases of an autosomal recessive pattern of inheritance are reported.[4]
References
- ↑ Chakraborty S, Combs MD, Yutzey KE (April 2010). "Transcriptional regulation of heart valve progenitor cells". Pediatr Cardiol. 31 (3): 414–21. doi:10.1007/s00246-009-9616-x. PMC 2837124. PMID 20039031.
- ↑ 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)