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Endocardial cushion defect(ECD)

MedGen UID:
41778
•Concept ID:
C0014116
•
Congenital Abnormality
Synonyms: Cushion Defect, Endocardial; Cushion Defects, Endocardial; Defect, Endocardial Cushion; Defects, Endocardial Cushion; Endocardial Cushion Defect; Endocardial Cushion Defects
SNOMED CT: Endocardial cushion defect (15459006)
 
OMIM®: 606215

Definition

A spectrum of septal defects involving the ATRIAL SEPTUM; VENTRICULAR SEPTUM; and the atrioventricular valves (TRICUSPID VALVE; BICUSPID VALVE). These defects are due to incomplete growth and fusion of the ENDOCARDIAL CUSHIONS which are important in the formation of two atrioventricular canals, site of future atrioventricular valves. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEndocardial cushion defect

Professional guidelines

PubMed

Diagnostic application of prenatal ultrasound in foetal heart complex malformation in twin pregnancy.
Li H, Zhang L, Cao X
J Pak Med Assoc 2020 Sep;70 [Special Issue](9):139-144. PMID: 33177743
Clinical study of prenatal ultrasonography combined with T‑box transcription factor 1 as a biomarker for the diagnosis of congenital heart disease.
Guo B, Xiao J, Li L, Wang S, Wang L, Liu S
Mol Med Rep 2018 May;17(5):7346-7350. Epub 2018 Mar 14 doi: 10.3892/mmr.2018.8742. PMID: 29568912
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome.
Chen CP, Chen CY, Chern SR, Su JW, Wang W
Taiwan J Obstet Gynecol 2012 Dec;51(4):643-8. doi: 10.1016/j.tjog.2012.10.001. PMID: 23276573

Recent clinical studies

Etiology

National outcomes of the Fontan operation with endocardial cushion defect.
Sainathan S, Said SM, Agala CB, Mullinari L, Sharma M
J Card Surg 2022 Oct;37(10):3151-3158. Epub 2022 Jul 5 doi: 10.1111/jocs.16742. PMID: 35788993
Association of Alcohol Use Diagnostic Codes in Pregnancy and Offspring Conotruncal and Endocardial Cushion Heart Defects.
Harvey DC, Baer RJ, Bandoli G, Chambers CD, Jelliffe-Pawlowski LL, Kumar SR
J Am Heart Assoc 2022 Jan 18;11(2):e022175. Epub 2022 Jan 11 doi: 10.1161/JAHA.121.022175. PMID: 35014860Free PMC Article
Atrioventricular septal defect: From embryonic development to long-term follow-up.
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
PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome.
Zhao CM, Peng LY, Li L, Liu XY, Wang J, Zhang XL, Yuan F, Li RG, Qiu XB, Yang YQ
PLoS One 2015;10(4):e0124409. Epub 2015 Apr 20 doi: 10.1371/journal.pone.0124409. PMID: 25893250Free PMC Article
Diagnosis of endocardial cushion defect with cross-sectional and M-mode scanning echocardiography. Differentiation from secundum atrial septal defect.
Beppu S, Nimura Y, Nagata S, Tamai M, Matsuo H
Br Heart J 1976 Sep;38(9):911-20. doi: 10.1136/hrt.38.9.911. PMID: 971376Free PMC Article

Diagnosis

National outcomes of the Fontan operation with endocardial cushion defect.
Sainathan S, Said SM, Agala CB, Mullinari L, Sharma M
J Card Surg 2022 Oct;37(10):3151-3158. Epub 2022 Jul 5 doi: 10.1111/jocs.16742. PMID: 35788993
Association of Alcohol Use Diagnostic Codes in Pregnancy and Offspring Conotruncal and Endocardial Cushion Heart Defects.
Harvey DC, Baer RJ, Bandoli G, Chambers CD, Jelliffe-Pawlowski LL, Kumar SR
J Am Heart Assoc 2022 Jan 18;11(2):e022175. Epub 2022 Jan 11 doi: 10.1161/JAHA.121.022175. PMID: 35014860Free PMC Article
Goose neck appearance: Endocardial cushion defect.
Han J, Xiang H, Ridley WE, Ridley LJ
J Med Imaging Radiat Oncol 2018 Oct;62 Suppl 1:31. doi: 10.1111/1754-9485.18_12785. PMID: 30309193
Atrioventricular septal defect: From embryonic development to long-term follow-up.
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
Relationship-Based Care for Newborns With Down Syndrome and Endocardial Cushion Defect.
Phillips C, Boyd M
Nurs Womens Health 2015 Oct-Nov;19(5):410-21. doi: 10.1111/1751-486X.12232. PMID: 26460913

Therapy

National outcomes of the Fontan operation with endocardial cushion defect.
Sainathan S, Said SM, Agala CB, Mullinari L, Sharma M
J Card Surg 2022 Oct;37(10):3151-3158. Epub 2022 Jul 5 doi: 10.1111/jocs.16742. PMID: 35788993
Post-Left Atrium Space Index in Fetuses With Total Anomalous Pulmonary Venous Connection and Other Congenital Heart Diseases.
Han J, Li T, Wu W, Zhang Y, Liu X, Gu X, Sun L, Gao S, He Y
J Ultrasound Med 2020 Dec;39(12):2405-2412. Epub 2020 Jun 3 doi: 10.1002/jum.15362. PMID: 32491276
Prenatal exposure to PM(2.5) and Congenital Heart Diseases in Taiwan.
Huang CC, Chen BY, Pan SC, Ho YL, Guo YL
Sci Total Environ 2019 Mar 10;655:880-886. Epub 2018 Nov 20 doi: 10.1016/j.scitotenv.2018.11.284. PMID: 30481714
Use of decongestants during pregnancy and the risk of birth defects.
Yau WP, Mitchell AA, Lin KJ, Werler MM, Hernández-Díaz S
Am J Epidemiol 2013 Jul 15;178(2):198-208. Epub 2013 Jul 3 doi: 10.1093/aje/kws427. PMID: 23825167Free PMC Article
Paternal exposures and cardiovascular malformations. The Baltimore-Washington Infant Study Group.
Correa-Villaseñor A, Ferencz C, Loffredo C, Magee C
J Expo Anal Environ Epidemiol 1993;3 Suppl 1:173-85. PMID: 9857303

Prognosis

National outcomes of the Fontan operation with endocardial cushion defect.
Sainathan S, Said SM, Agala CB, Mullinari L, Sharma M
J Card Surg 2022 Oct;37(10):3151-3158. Epub 2022 Jul 5 doi: 10.1111/jocs.16742. PMID: 35788993
National Fontan Operation short-term outcomes at or below 2-years-of-age compared to older than 2-years-of-age.
Sainathan S, Agala CB, Said SM, Mulinari L, Sharma MS
J Card Surg 2022 Jun;37(6):1567-1573. Epub 2022 Mar 24 doi: 10.1111/jocs.16424. PMID: 35324033
CRELD1 gene variants and atrioventricular septal defects in Down syndrome.
Asim A, Agarwal S, Panigrahi I, Sarangi AN, Muthuswamy S, Kapoor A
Gene 2018 Jan 30;641:180-185. Epub 2017 Oct 18 doi: 10.1016/j.gene.2017.10.044. PMID: 29054759
Atrioventricular septal defect: From embryonic development to long-term follow-up.
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
64-Slice MDCT imaging of endocardial cushion defect associated with other cardiac and extracardiac abnormalities.
Oyama N, Goto D, Sasaki T, Tsutsui H, Tamaki N, Terae S, Shirato H
J Cardiovasc Comput Tomogr 2010 May-Jun;4(3):218-20. Epub 2010 Feb 20 doi: 10.1016/j.jcct.2010.02.001. PMID: 20392685

Clinical prediction guides

National outcomes of the Fontan operation with endocardial cushion defect.
Sainathan S, Said SM, Agala CB, Mullinari L, Sharma M
J Card Surg 2022 Oct;37(10):3151-3158. Epub 2022 Jul 5 doi: 10.1111/jocs.16742. PMID: 35788993
National Fontan Operation short-term outcomes at or below 2-years-of-age compared to older than 2-years-of-age.
Sainathan S, Agala CB, Said SM, Mulinari L, Sharma MS
J Card Surg 2022 Jun;37(6):1567-1573. Epub 2022 Mar 24 doi: 10.1111/jocs.16424. PMID: 35324033
64-Slice MDCT imaging of endocardial cushion defect associated with other cardiac and extracardiac abnormalities.
Oyama N, Goto D, Sasaki T, Tsutsui H, Tamaki N, Terae S, Shirato H
J Cardiovasc Comput Tomogr 2010 May-Jun;4(3):218-20. Epub 2010 Feb 20 doi: 10.1016/j.jcct.2010.02.001. PMID: 20392685
Endocardial cushion defect: further studies of "isolated" versus "syndromic" occurrence.
Carmi R, Boughman JA, Ferencz C
Am J Med Genet 1992 Jun 1;43(3):569-75. doi: 10.1002/ajmg.1320430313. PMID: 1534968
The straddling mitral valve: morphological observations and clinical implications.
Freedom RM, Bini R, Dische R, Rowe RD
Eur J Cardiol 1978 Aug;8(1):27-50. PMID: 689069

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