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Atrioventricular septal defect 5(AVSD5)

MedGen UID:
482569
Concept ID:
C3280939
Congenital Abnormality; Disease or Syndrome
Synonym: AVSD5
 
Gene (location): GATA6 (18q11.2)
 
Monarch Initiative: MONDO:0013769
OMIM®: 614474

Definition

The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006). AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992). For a discussion of genetic heterogeneity of atrioventricular septal defects, see AVSD1 (606215). [from OMIM]

Clinical features

From HPO
Hypoplastic left heart syndrome
MedGen UID:
57746
Concept ID:
C0152101
Disease or Syndrome
People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.
Muscular ventricular septal defect
MedGen UID:
473253
Concept ID:
C0685707
Congenital Abnormality
The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.
Atrioventricular canal defect
MedGen UID:
235591
Concept ID:
C1389016
Anatomical Abnormality
A defect of the atrioventricular septum of the heart.

Professional guidelines

PubMed

D'Alto M, Vizza CD, Romeo E, Badagliacca R, Santoro G, Poscia R, Sarubbi B, Mancone M, Argiento P, Ferrante F, Russo MG, Fedele F, Calabrò R
Heart 2007 May;93(5):621-5. Epub 2006 Nov 29 doi: 10.1136/hrt.2006.097360. PMID: 17135220Free PMC Article

Recent clinical studies

Etiology

Maslen CL
Adv Exp Med Biol 2024;1441:559-571. doi: 10.1007/978-3-031-44087-8_30. PMID: 38884732
Schumacher K, Marin Cuartas M, Meier S, Aydin MI, Borger MA, Dähnert I, Kostelka M, Vollroth M
J Cardiothorac Surg 2023 Aug 23;18(1):250. doi: 10.1186/s13019-023-02355-6. PMID: 37612667Free PMC Article
Arrigoni SC, IJsselhof R, Postmus D, Vonk JM, François K, Bové T, Hazekamp MG, Rijnberg FM, Meyns B, van Puyvelde J, Poncelet AJ, de Beco G, van de Woestijne PC, Bogers AJJC, Schoof PH, Ebels T
J Thorac Cardiovasc Surg 2022 Mar;163(3):1166-1175. Epub 2021 May 18 doi: 10.1016/j.jtcvs.2021.05.015. PMID: 34099273
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
Calkoen EE, Hazekamp MG, Blom NA, Elders BB, Gittenberger-de Groot AC, Haak MC, Bartelings MM, Roest AA, Jongbloed MR
Int J Cardiol 2016 Jan 1;202:784-95. Epub 2015 Sep 26 doi: 10.1016/j.ijcard.2015.09.081. PMID: 26476030

Diagnosis

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
Krupickova S, Morgan GJ, Cheang MH, Rigby ML, Franklin RC, Battista A, Spanaki A, Bonello B, Ghez O, Anderson D, Tsang V, Michielon G, Marek J, Fraisse A
Heart 2018 Sep;104(17):1411-1416. Epub 2017 Dec 28 doi: 10.1136/heartjnl-2017-312195. PMID: 29288192
Corsten-Janssen N, Scambler PJ
Am J Med Genet C Semin Med Genet 2017 Dec;175(4):487-495. Epub 2017 Oct 31 doi: 10.1002/ajmg.c.31590. PMID: 29088513
Mureşan D, Mărginean C, Zaharie G, Stamatian F, Rotar IC
Med Ultrason 2016 Dec 5;18(4):500-507. doi: 10.11152/mu-879. PMID: 27981284
Calkoen EE, Hazekamp MG, Blom NA, Elders BB, Gittenberger-de Groot AC, Haak MC, Bartelings MM, Roest AA, Jongbloed MR
Int J Cardiol 2016 Jan 1;202:784-95. Epub 2015 Sep 26 doi: 10.1016/j.ijcard.2015.09.081. PMID: 26476030

Therapy

Gellis L, McGeoghegan P, Lu M, Feins E, Sleeper L, Emani S, Friedman K, Baird C
J Thorac Cardiovasc Surg 2023 Oct;166(4):1168-1177. Epub 2023 May 7 doi: 10.1016/j.jtcvs.2023.04.004. PMID: 37160215
Callahan CP, Jegatheeswaran A, Barron DJ, Husain SA, Fuller S, Overman DM, McCrindle BW; Congenital Heart Surgeons' Society Atrioventricular Septal Defect Working Group
J Thorac Cardiovasc Surg 2022 Mar;163(3):1142-1152.e6. Epub 2021 Sep 8 doi: 10.1016/j.jtcvs.2021.06.067. PMID: 34627603
Arrigoni SC, IJsselhof R, Postmus D, Vonk JM, François K, Bové T, Hazekamp MG, Rijnberg FM, Meyns B, van Puyvelde J, Poncelet AJ, de Beco G, van de Woestijne PC, Bogers AJJC, Schoof PH, Ebels T
J Thorac Cardiovasc Surg 2022 Mar;163(3):1166-1175. Epub 2021 May 18 doi: 10.1016/j.jtcvs.2021.05.015. PMID: 34099273
Fong LS, Betts K, Bell D, Konstantinov IE, Nicholson IA, Winlaw DS, Orr Y; Australian CAVSD Study Group
J Thorac Cardiovasc Surg 2020 Mar;159(3):1014-1025.e8. Epub 2019 Aug 30 doi: 10.1016/j.jtcvs.2019.08.005. PMID: 31590953
Krupickova S, Morgan GJ, Cheang MH, Rigby ML, Franklin RC, Battista A, Spanaki A, Bonello B, Ghez O, Anderson D, Tsang V, Michielon G, Marek J, Fraisse A
Heart 2018 Sep;104(17):1411-1416. Epub 2017 Dec 28 doi: 10.1136/heartjnl-2017-312195. PMID: 29288192

Prognosis

Schumacher K, Marin Cuartas M, Meier S, Aydin MI, Borger MA, Dähnert I, Kostelka M, Vollroth M
J Cardiothorac Surg 2023 Aug 23;18(1):250. doi: 10.1186/s13019-023-02355-6. PMID: 37612667Free PMC Article
Arrigoni SC, IJsselhof R, Postmus D, Vonk JM, François K, Bové T, Hazekamp MG, Rijnberg FM, Meyns B, van Puyvelde J, Poncelet AJ, de Beco G, van de Woestijne PC, Bogers AJJC, Schoof PH, Ebels T
J Thorac Cardiovasc Surg 2022 Mar;163(3):1166-1175. Epub 2021 May 18 doi: 10.1016/j.jtcvs.2021.05.015. PMID: 34099273
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
Mureşan D, Mărginean C, Zaharie G, Stamatian F, Rotar IC
Med Ultrason 2016 Dec 5;18(4):500-507. doi: 10.11152/mu-879. PMID: 27981284
Calkoen EE, Hazekamp MG, Blom NA, Elders BB, Gittenberger-de Groot AC, Haak MC, Bartelings MM, Roest AA, Jongbloed MR
Int J Cardiol 2016 Jan 1;202:784-95. Epub 2015 Sep 26 doi: 10.1016/j.ijcard.2015.09.081. PMID: 26476030

Clinical prediction guides

Gellis L, McGeoghegan P, Lu M, Feins E, Sleeper L, Emani S, Friedman K, Baird C
J Thorac Cardiovasc Surg 2023 Oct;166(4):1168-1177. Epub 2023 May 7 doi: 10.1016/j.jtcvs.2023.04.004. PMID: 37160215
Callahan CP, Jegatheeswaran A, Barron DJ, Husain SA, Fuller S, Overman DM, McCrindle BW; Congenital Heart Surgeons' Society Atrioventricular Septal Defect Working Group
J Thorac Cardiovasc Surg 2022 Mar;163(3):1142-1152.e6. Epub 2021 Sep 8 doi: 10.1016/j.jtcvs.2021.06.067. PMID: 34627603
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
Pontailler M, Haidar M, Méot M, Moreau de Bellaing A, Gaudin R, Houyel L, Metton O, Moceri P, Bonnet D, Vouhé P, Raisky O
Eur J Cardiothorac Surg 2019 Sep 1;56(3):541-548. doi: 10.1093/ejcts/ezz085. PMID: 30897200
Krupickova S, Morgan GJ, Cheang MH, Rigby ML, Franklin RC, Battista A, Spanaki A, Bonello B, Ghez O, Anderson D, Tsang V, Michielon G, Marek J, Fraisse A
Heart 2018 Sep;104(17):1411-1416. Epub 2017 Dec 28 doi: 10.1136/heartjnl-2017-312195. PMID: 29288192

Recent systematic reviews

Ghosh S, Halder V, Mittal A, Mishra A, Haranal M, Aggarwal P, Singh H, Barwad P, Naganur S, Thingnam SKS
Cardiol Young 2023 Sep;33(9):1506-1516. Epub 2023 Jul 31 doi: 10.1017/S1047951123002664. PMID: 37518865
Wu Y, Kuang H, Wang G, Dai J, Li Y, Wei G, Wu C
Pediatr Cardiol 2020 Oct;41(7):1445-1457. Epub 2020 Jun 24 doi: 10.1007/s00246-020-02397-w. PMID: 32583199
Loomba RS, Flores S, Villarreal EG, Bronicki RA, Anderson RH
World J Pediatr Congenit Heart Surg 2019 Sep;10(5):616-623. doi: 10.1177/2150135119859882. PMID: 31496417
Lenko E, Kulyabin Y, Zubritskiy A, Gorbatykh Y, Naberukhin Y, Nichay N, Bogachev-Prokophiev A, Karaskov A
Interact Cardiovasc Thorac Surg 2018 Jan 1;26(1):98-105. doi: 10.1093/icvts/ivx267. PMID: 29049707
Buca DIP, Khalil A, Rizzo G, Familiari A, Di Giovanni S, Liberati M, Murgano D, Ricciardulli A, Fanfani F, Scambia G, D'Antonio F
Ultrasound Obstet Gynecol 2018 Mar;51(3):323-330. doi: 10.1002/uog.17546. PMID: 28603940

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