Tricuspid atresia causes: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
No edit summary |
||
| Line 10: | Line 10: | ||
* A missense mutation in NFATC1 which 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> | * A missense mutation in NFATC1 which 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> | * 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. | * 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== | ||
Revision as of 05:18, 28 August 2020
|
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.[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)