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Abnormal atrioventricular valve physiology

MedGen UID:
1647733
•Concept ID:
C4703462
•
Pathologic Function
HPO: HP:0031650

Definition

Any functional defect of the mitral or tricuspid valve. [from HPO]

Professional guidelines

PubMed

Prenatal Diagnosis and Management of Single-Ventricle Heart Disease.
Freud LR, Seed M
Can J Cardiol 2022 Jul;38(7):897-908. Epub 2022 Apr 13 doi: 10.1016/j.cjca.2022.04.003. PMID: 35429589
Management of the adult Fontan patient.
Rodriguez FH, Book WM
Heart 2020 Jan;106(2):105-110. Epub 2019 Oct 29 doi: 10.1136/heartjnl-2019-314937. PMID: 31662332
Postnatal Outcome Following Prenatal Diagnosis of Discordant Atrioventricular and Ventriculoarterial Connections.
Day TG, Woodgate T, Knee O, Zidere V, Vigneswaran T, Charakida M, Miller O, Sharland G, Simpson J
Pediatr Cardiol 2019 Oct;40(7):1509-1515. Epub 2019 Jul 25 doi: 10.1007/s00246-019-02176-2. PMID: 31342118

Recent clinical studies

Etiology

Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Management of the adult Fontan patient.
Rodriguez FH, Book WM
Heart 2020 Jan;106(2):105-110. Epub 2019 Oct 29 doi: 10.1136/heartjnl-2019-314937. PMID: 31662332
Surgical Considerations in Atrioventricular Canal Defects.
Malik M, Khalid Nuri M
Semin Cardiothorac Vasc Anesth 2017 Sep;21(3):229-234. Epub 2017 May 8 doi: 10.1177/1089253217708622. PMID: 28482733
Echocardiographic assessment of Ebstein's anomaly.
Booker OJ, Nanda NC
Echocardiography 2015 Jan;32 Suppl 2:S177-88. Epub 2014 May 29 doi: 10.1111/echo.12486. PMID: 24888693
Cor triatriatum sinister.
Kadner A, Meszaros K, Mueller C, Schoenhoff F, Hutter D, Carrel T
Multimed Man Cardiothorac Surg 2014;2014 Epub 2014 May 30 doi: 10.1093/mmcts/mmu005. PMID: 24878580

Diagnosis

Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Sinibaldi L, Garone G, Mandarino A, Iarossi G, Chioma L, Dentici ML, Merla G, Agolini E, Micalizzi A, Mancini C, Niceta M, Macchiaiolo M, Diodato D, Onesimo R, Blandino R, Delogu AB, De Rosa G, Trevisan V, Iademarco M, Zampino G, Tartaglia M, Novelli A, Bartuli A, Digilio MC, Calcagni G
Clin Genet 2023 Nov;104(5):528-541. Epub 2023 Jul 17 doi: 10.1111/cge.14404. PMID: 37455656
Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Management of the adult Fontan patient.
Rodriguez FH, Book WM
Heart 2020 Jan;106(2):105-110. Epub 2019 Oct 29 doi: 10.1136/heartjnl-2019-314937. PMID: 31662332
Congenitally corrected transposition.
Wallis GA, Debich-Spicer D, Anderson RH
Orphanet J Rare Dis 2011 May 14;6:22. doi: 10.1186/1750-1172-6-22. PMID: 21569592Free PMC Article
Complete atrioventricular canal.
Calabrò R, Limongelli G
Orphanet J Rare Dis 2006 Apr 5;1:8. doi: 10.1186/1750-1172-1-8. PMID: 16722604Free PMC Article

Therapy

Atrioventricular valve surgery: Restoration of the fibrous skeleton of the heart.
Buratto E, Konstantinov IE
J Thorac Cardiovasc Surg 2021 Aug;162(2):360-365. Epub 2021 May 7 doi: 10.1016/j.jtcvs.2021.03.128. PMID: 34059335
Mitral Annulus Calcium Score.
Brodov Y, Konen E, Di Segni M, Samoocha D, Chernomordik F, Barbash I, Regev E, Raanani E, Guetta V, Segev A, Fefer P, Glikson M, Goitein O
Circ Cardiovasc Imaging 2019 Dec;12(1):e007508. doi: 10.1161/CIRCIMAGING.117.007508. PMID: 30636515
Perioperative and Anesthetic Considerations in Atrioventricular Septal Defect.
Ross FJ, Nasr VG, Joffe D, Latham GJ
Semin Cardiothorac Vasc Anesth 2017 Sep;21(3):221-228. Epub 2017 Jun 7 doi: 10.1177/1089253217706166. PMID: 28592182
Echocardiographic assessment of Ebstein's anomaly.
Booker OJ, Nanda NC
Echocardiography 2015 Jan;32 Suppl 2:S177-88. Epub 2014 May 29 doi: 10.1111/echo.12486. PMID: 24888693
Cor triatriatum sinister.
Kadner A, Meszaros K, Mueller C, Schoenhoff F, Hutter D, Carrel T
Multimed Man Cardiothorac Surg 2014;2014 Epub 2014 May 30 doi: 10.1093/mmcts/mmu005. PMID: 24878580

Prognosis

Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Management of the adult Fontan patient.
Rodriguez FH, Book WM
Heart 2020 Jan;106(2):105-110. Epub 2019 Oct 29 doi: 10.1136/heartjnl-2019-314937. PMID: 31662332
Echocardiographic assessment of Ebstein's anomaly.
Booker OJ, Nanda NC
Echocardiography 2015 Jan;32 Suppl 2:S177-88. Epub 2014 May 29 doi: 10.1111/echo.12486. PMID: 24888693
Congenitally corrected transposition.
Wallis GA, Debich-Spicer D, Anderson RH
Orphanet J Rare Dis 2011 May 14;6:22. doi: 10.1186/1750-1172-6-22. PMID: 21569592Free PMC Article
Complete atrioventricular canal.
Calabrò R, Limongelli G
Orphanet J Rare Dis 2006 Apr 5;1:8. doi: 10.1186/1750-1172-1-8. PMID: 16722604Free PMC Article

Clinical prediction guides

Ex Vivo Modeling of Atrioventricular Valve Mechanics in Single Ventricle Physiology.
Moye SC, Kidambi S, Lee JY, Cowles TH, Gilligan-Steinberg SD, Bryan AY, Wilkerson R, Woo YJ, Ma MR
Ann Biomed Eng 2023 Aug;51(8):1738-1746. Epub 2023 Mar 25 doi: 10.1007/s10439-023-03178-1. PMID: 36966247
Imaging of complications following Fontan circulation in children - diagnosis and surveillance.
de Lange C
Pediatr Radiol 2020 Sep;50(10):1333-1348. Epub 2020 May 28 doi: 10.1007/s00247-020-04682-5. PMID: 32468285Free PMC Article
Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Atrioventricular Valve Repair in Single Ventricle Physiology: Timing Matters.
Miana LA, Manuel V, Turquetto AL, Issa HN, Guerreiro GP, Caneo LF, Jatene FB, Jatene MB
World J Pediatr Congenit Heart Surg 2020 Jan;11(1):22-28. doi: 10.1177/2150135119884916. PMID: 31835992
Mitral Annulus Calcium Score.
Brodov Y, Konen E, Di Segni M, Samoocha D, Chernomordik F, Barbash I, Regev E, Raanani E, Guetta V, Segev A, Fefer P, Glikson M, Goitein O
Circ Cardiovasc Imaging 2019 Dec;12(1):e007508. doi: 10.1161/CIRCIMAGING.117.007508. PMID: 30636515

Recent systematic reviews

Risk factors for death or heart transplantation in single-ventricle physiology (tricuspid atresia, pulmonary atresia, and heterotaxy): A systematic review and meta-analysis.
Kulkarni A, Patel N, Singh TP, Mossialos E, Mehra MR
J Heart Lung Transplant 2019 Jul;38(7):739-747. Epub 2019 Apr 4 doi: 10.1016/j.healun.2019.04.001. PMID: 31006521
Predicting long-term mortality after Fontan procedures: A risk score based on 6707 patients from 28 studies.
Alsaied T, Bokma JP, Engel ME, Kuijpers JM, Hanke SP, Zuhlke L, Zhang B, Veldtman GR
Congenit Heart Dis 2017 Jul;12(4):393-398. Epub 2017 May 8 doi: 10.1111/chd.12468. PMID: 28480627

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