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1. 成人の心室中隔欠損症 ventricular septal defect in adults
2. 成人における心房中隔欠損症の臨床症状および診断 clinical manifestations and diagnosis of atrial septal defects in adults

English Journal

Differential and linear insertion of atrioventricular valves: a useful tool?

Adriaanse BM1, Bartelings MM, van Vugt JM, Chaoui R, Gittenberger-de Groot AC, Haak MC.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.Ultrasound Obstet Gynecol.2014 Nov;44(5):568-74. doi: 10.1002/uog.13326.
OBJECTIVE: The differential insertion of the atrioventricular valves is the ultrasonographic representation of the more apical attachment of the tricuspid valve to the septum with respect to the mitral valve. A linear insertion is present when both valves form a linear continuum and has been suggest
PMID 24515626

Foxf genes integrate tbx5 and hedgehog pathways in the second heart field for cardiac septation.

Hoffmann AD1, Yang XH1, Burnicka-Turek O1, Bosman JD1, Ren X2, Steimle JD1, Vokes SA3, McMahon AP4, Kalinichenko VV2, Moskowitz IP1.
PLoS genetics.PLoS Genet.2014 Oct 30;10(10):e1004604. doi: 10.1371/journal.pgen.1004604. eCollection 2014.
The Second Heart Field (SHF) has been implicated in several forms of congenital heart disease (CHD), including atrioventricular septal defects (AVSDs). Identifying the SHF gene regulatory networks required for atrioventricular septation is therefore an essential goal for understanding the molecular
PMID 25356765

Rare variants in NR2F2 cause congenital heart defects in humans.

Al Turki S1, Manickaraj AK2, Mercer CL3, Gerety SS4, Hitz MP4, Lindsay S4, D'Alessandro LC2, Swaminathan GJ4, Bentham J5, Arndt AK6, Low J7, Breckpot J8, Gewillig M9, Thienpont B8, Abdul-Khaliq H10, Harnack C11, Hoff K12, Kramer HH13, Schubert S14, Siebert R15, Toka O16, Cosgrove C17, Watkins H17, Lucassen AM3, O'Kelly IM3, Salmon AP3, Bu'lock FA18, Granados-Riveron J19, Setchfield K19, Thornborough C18, Brook JD19, Mulder B20, Klaassen S21, Bhattacharya S17, Devriendt K8, Fitzpatrick DF22; UK10K Consortium, Wilson DI3, Mital S23, Hurles ME24.
American journal of human genetics.Am J Hum Genet.2014 Apr 3;94(4):574-85. doi: 10.1016/j.ajhg.2014.03.007.
Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly understood. We performed exome sequencing in 13
PMID 24702954

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