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Apical muscular ventricular septal defect

MedGen UID:
868854
•Concept ID:
C4023264
•
Anatomical Abnormality
HPO: HP:0011624

Definition

A muscular ventricular septal defect located at the apex of the heart. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVApical muscular ventricular septal defect

Conditions with this feature

Mullegama-Klein-Martinez syndrome
MedGen UID:
1683985
•Concept ID:
C5193008
•
Disease or Syndrome
Mullegama-Klein-Martinez syndrome (MKMS) is an X-linked recessive disorder with features of microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, congenital heart defect, and digit abnormalities. Females are generally affected more severely than males (Mullegama et al., 2019).
See: Condition Record
Mullegama-Klein-Martinez syndrome

Professional guidelines

PubMed

A review of the therapeutic management of multiple ventricular septal defects.
Chowdhury UK, Anderson RH, Spicer DE, Sankhyan LK, George N, Pandey NN, Balaji A, Goja S, Malik V
J Card Surg 2022 May;37(5):1361-1376. Epub 2022 Feb 11 doi: 10.1111/jocs.16289. PMID: 35146802
Treatment of congenital non-ductal shunt lesions with the amplatzer duct occluder II.
Vijayalakshmi IB, Narasimhan C, Singh B, Manjunath CN
Catheter Cardiovasc Interv 2017 May;89(6):E185-E193. Epub 2013 Nov 18 doi: 10.1002/ccd.25250. PMID: 24130123
Surgical management of muscular trabecular ventricular septal defects.
Asou T
Gen Thorac Cardiovasc Surg 2011 Nov;59(11):723-9. Epub 2011 Nov 15 doi: 10.1007/s11748-011-0826-9. PMID: 22083689

Recent clinical studies

Etiology

Percardiac closure of large apical ventricular septal defects in infants: Novel modifications and mid-term results.
Changwe GJ, Hongxin L, Zhang HZ, Wenbin G, Liang F, Cao XX, Chen SL
J Card Surg 2021 Mar;36(3):928-938. Epub 2021 Jan 27 doi: 10.1111/jocs.15291. PMID: 33503678Free PMC Article
Apical muscular ventricular septal defect closure via hybrid approach using a right ventricular stay suture.
Escobar AJ, Levi DS, Van Arsdell GS, Perens GS, Mohan UR
Catheter Cardiovasc Interv 2021 Mar;97(4):E514-E517. Epub 2020 Nov 16 doi: 10.1002/ccd.29370. PMID: 33197132
Echocardiographic findings in infants with presumed congenital Zika syndrome: Retrospective case series study.
Cavalcanti DD, Alves LV, Furtado GJ, Santos CC, Feitosa FG, Ribeiro MC, Menge P, Lira IM, Alves JG
PLoS One 2017;12(4):e0175065. Epub 2017 Apr 20 doi: 10.1371/journal.pone.0175065. PMID: 28426680Free PMC Article
First-trimester transabdominal fetal echocardiography.
Carvalho JS, Moscoso G, Ville Y
Lancet 1998 Apr 4;351(9108):1023-7. doi: 10.1016/S0140-6736(97)08406-7. PMID: 9546509
Experience with repair of congenital heart defects using adjunctive endovascular devices.
Coles JG, Yemets I, Najm HK, Lukanich JM, Perron J, Wilson GJ, Rabinovitch M, Nykanen DG, Benson LN, Rebeyka IM
J Thorac Cardiovasc Surg 1995 Nov;110(5):1513-9; discussion 1519-20. doi: 10.1016/S0022-5223(95)70075-7. PMID: 7475204

Diagnosis

Anomalous right ventricular muscle bands obstructing a large apical muscular ventricular septal defect: From fetal to post-natal three-dimensional assessment.
Farruggio S, Caruso E
Echocardiography 2022 Mar;39(3):531-535. Epub 2022 Feb 7 doi: 10.1111/echo.15312. PMID: 35132691
Trans-ventricular catheter device-based closure of postmyocardial infarction ventricular septal defect following coronary artery bypass grafting: A staged hybrid approach.
Loyalka P, Cheema FH, Thakurdas S, Rajagopal K, Hannan Chaugle A
J Card Surg 2021 Apr;36(4):1563-1565. Epub 2021 Jan 27 doi: 10.1111/jocs.15375. PMID: 33502796
A simple surgical technique for closure of apical muscular ventricular septal defect.
Mishra A, Shah R, Desai M, Chourasiya A, Patel H, Oswal N, Rodricks D
J Thorac Cardiovasc Surg 2014 Dec;148(6):2576-9. Epub 2014 Feb 14 doi: 10.1016/j.jtcvs.2014.02.036. PMID: 24667025
The first Stella van Praagh memorial lecture: the history and anatomy of tetralogy of Fallot.
Van Praagh R
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2009:19-38. doi: 10.1053/j.pcsu.2009.01.004. PMID: 19349011
First-trimester transabdominal fetal echocardiography.
Carvalho JS, Moscoso G, Ville Y
Lancet 1998 Apr 4;351(9108):1023-7. doi: 10.1016/S0140-6736(97)08406-7. PMID: 9546509

Therapy

Apical muscular ventricular septal defect closure via hybrid approach using a right ventricular stay suture.
Escobar AJ, Levi DS, Van Arsdell GS, Perens GS, Mohan UR
Catheter Cardiovasc Interv 2021 Mar;97(4):E514-E517. Epub 2020 Nov 16 doi: 10.1002/ccd.29370. PMID: 33197132
A simple surgical technique for closure of apical muscular ventricular septal defect.
Mishra A, Shah R, Desai M, Chourasiya A, Patel H, Oswal N, Rodricks D
J Thorac Cardiovasc Surg 2014 Dec;148(6):2576-9. Epub 2014 Feb 14 doi: 10.1016/j.jtcvs.2014.02.036. PMID: 24667025
The first Stella van Praagh memorial lecture: the history and anatomy of tetralogy of Fallot.
Van Praagh R
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2009:19-38. doi: 10.1053/j.pcsu.2009.01.004. PMID: 19349011

Prognosis

Percardiac closure of large apical ventricular septal defects in infants: Novel modifications and mid-term results.
Changwe GJ, Hongxin L, Zhang HZ, Wenbin G, Liang F, Cao XX, Chen SL
J Card Surg 2021 Mar;36(3):928-938. Epub 2021 Jan 27 doi: 10.1111/jocs.15291. PMID: 33503678Free PMC Article
Experience with repair of congenital heart defects using adjunctive endovascular devices.
Coles JG, Yemets I, Najm HK, Lukanich JM, Perron J, Wilson GJ, Rabinovitch M, Nykanen DG, Benson LN, Rebeyka IM
J Thorac Cardiovasc Surg 1995 Nov;110(5):1513-9; discussion 1519-20. doi: 10.1016/S0022-5223(95)70075-7. PMID: 7475204

Clinical prediction guides

Echocardiographic findings in infants with presumed congenital Zika syndrome: Retrospective case series study.
Cavalcanti DD, Alves LV, Furtado GJ, Santos CC, Feitosa FG, Ribeiro MC, Menge P, Lira IM, Alves JG
PLoS One 2017;12(4):e0175065. Epub 2017 Apr 20 doi: 10.1371/journal.pone.0175065. PMID: 28426680Free PMC Article

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