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Multiple muscular ventricular septal defects

MedGen UID:
868853
Concept ID:
C4023263
Anatomical Abnormality
Synonym: Swiss cheese ventricular septal defect
 
HPO: HP:0011625

Definition

A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple muscular ventricular septal defects

Conditions with this feature

Severe dermatitis-multiple allergies-metabolic wasting syndrome
MedGen UID:
816049
Concept ID:
C3809719
Disease or Syndrome
A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects.
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
MedGen UID:
1824001
Concept ID:
C5774228
Disease or Syndrome
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties (NEDSFF) is an autosomal recessive disorder characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death (Shankar et al., 2022).

Professional guidelines

PubMed

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
Mosimann B, Zidere V, Simpson JM, Allan LD
Ultrasound Obstet Gynecol 2014 Jul;44(1):76-81. doi: 10.1002/uog.13284. PMID: 24357326
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

Andugala S, Grant C, Powell J, Marathe S, Venugopal P, Alphonso N
World J Pediatr Congenit Heart Surg 2025 Jan;16(1):57-63. Epub 2024 Oct 14 doi: 10.1177/21501351241278584. PMID: 39397572
Salve GG, Jain SA, Sharma B, Nimbalkar MS, Katkade SS, Kurien J, Bhadane NS, Dalvi BV, Kumar RK, Shivaprakash K
Interact Cardiovasc Thorac Surg 2018 Sep 1;27(3):402-409. doi: 10.1093/icvts/ivy092. PMID: 29590404
Shetty V, Shetty D, Punnen J, Chattuparambil B, Whitlock R, Bohra D
Interact Cardiovasc Thorac Surg 2017 Sep 1;25(3):422-426. doi: 10.1093/icvts/ivx105. PMID: 28575225
Zartner P, Christians C, Stelter JC, Hraška V, Schneider MB
Catheter Cardiovasc Interv 2014 Mar 1;83(4):564-70. Epub 2013 Nov 9 doi: 10.1002/ccd.25177. PMID: 23996896
Alsoufi B, Karamlou T, Osaki M, Badiwala MV, Ching CC, Dipchand A, McCrindle BW, Coles JG, Caldarone CA, Williams WG, Van Arsdell GS
J Thorac Cardiovasc Surg 2006 Nov;132(5):1072-80. doi: 10.1016/j.jtcvs.2006.07.011. PMID: 17059925

Diagnosis

Shetty V, Shetty D, Punnen J, Chattuparambil B, Whitlock R, Bohra D
Interact Cardiovasc Thorac Surg 2017 Sep 1;25(3):422-426. doi: 10.1093/icvts/ivx105. PMID: 28575225
Mathew T, Kundan S, Abdulsamad MI, Menon S, Dharan BS, Jayakumar K
Ann Thorac Surg 2014 Jan;97(1):e27-8. doi: 10.1016/j.athoracsur.2013.10.059. PMID: 24384220
Zartner P, Christians C, Stelter JC, Hraška V, Schneider MB
Catheter Cardiovasc Interv 2014 Mar 1;83(4):564-70. Epub 2013 Nov 9 doi: 10.1002/ccd.25177. PMID: 23996896
Hofmeyr L, Pohlner P, Radford DJ
Congenit Heart Dis 2013 Nov-Dec;8(6):541-9. Epub 2013 Jan 28 doi: 10.1111/chd.12038. PMID: 23350905
Cetin G, Ozkara A, Akcevin A, Korkut AK, Soyler I, Koner O, Tireli E
J Card Surg 2005 May-Jun;20(3):274-7. doi: 10.1111/j.1540-8191.2005.200468.x. PMID: 15854094

Therapy

Zartner P, Christians C, Stelter JC, Hraška V, Schneider MB
Catheter Cardiovasc Interv 2014 Mar 1;83(4):564-70. Epub 2013 Nov 9 doi: 10.1002/ccd.25177. PMID: 23996896
Hofmeyr L, Pohlner P, Radford DJ
Congenit Heart Dis 2013 Nov-Dec;8(6):541-9. Epub 2013 Jan 28 doi: 10.1111/chd.12038. PMID: 23350905
Alsoufi B, Karamlou T, Osaki M, Badiwala MV, Ching CC, Dipchand A, McCrindle BW, Coles JG, Caldarone CA, Williams WG, Van Arsdell GS
J Thorac Cardiovasc Surg 2006 Nov;132(5):1072-80. doi: 10.1016/j.jtcvs.2006.07.011. PMID: 17059925
Arora R, Trehan V, Thakur AK, Mehta V, Sengupta PP, Nigam M
J Interv Cardiol 2004 Apr;17(2):109-15. doi: 10.1111/j.1540-8183.2004.09872.x. PMID: 15104774
Fricker FJ, Griffith BP, Hardesty RL, Trento A, Gold LM, Schmeltz K, Beerman LB, Fischer DR, Mathews RA, Neches WH
Pediatrics 1987 Jan;79(1):138-46. PMID: 3540834

Prognosis

Shetty V, Shetty D, Punnen J, Chattuparambil B, Whitlock R, Bohra D
Interact Cardiovasc Thorac Surg 2017 Sep 1;25(3):422-426. doi: 10.1093/icvts/ivx105. PMID: 28575225
Shin HJ, Jhang WK, Park JJ, Yu JJ, Kim YH, Ko JK, Park IS, Seo DM
Ann Thorac Surg 2011 Oct;92(4):1490-3. Epub 2011 Aug 12 doi: 10.1016/j.athoracsur.2011.04.026. PMID: 21839979
Haponiuk I, Chojnicki M, Jaworski R, Juściński J, Steffek M, Pałkowska L
Heart Surg Forum 2011 Feb;14(1):E67-9. doi: 10.1532/HSF98.20101081. PMID: 21345780
Zhu D, Liu B, Lin K
J Card Surg 2011 Mar;26(2):237-9. Epub 2011 Jan 31 doi: 10.1111/j.1540-8191.2010.01188.x. PMID: 21281342
Cetin G, Ozkara A, Akcevin A, Korkut AK, Soyler I, Koner O, Tireli E
J Card Surg 2005 May-Jun;20(3):274-7. doi: 10.1111/j.1540-8191.2005.200468.x. PMID: 15854094

Clinical prediction guides

Haponiuk I, Chojnicki M, Jaworski R, Juściński J, Steffek M, Pałkowska L
Heart Surg Forum 2011 Feb;14(1):E67-9. doi: 10.1532/HSF98.20101081. PMID: 21345780
Arora R, Trehan V, Thakur AK, Mehta V, Sengupta PP, Nigam M
J Interv Cardiol 2004 Apr;17(2):109-15. doi: 10.1111/j.1540-8183.2004.09872.x. PMID: 15104774
Acar P, Abdel-Massih T, Douste-Blazy MY, Dulac Y, Bonhoeffer P, Sidi D
Eur J Echocardiogr 2002 Sep;3(3):185-91. doi: 10.1053/euje.2002.0143. PMID: 12144837
Knott-Craig CJ, Overholt ED, Ward KE, Razook JD
Ann Thorac Surg 2000 May;69(5):1505-10. doi: 10.1016/s0003-4975(00)01138-3. PMID: 10881831
Benson DW Jr, Gallagher JJ, Spach MS, Barr RC, Edwards SB, Oldham HN, Kasell J
J Pediatr 1980 Jan;96(1):41-6. doi: 10.1016/s0022-3476(80)80321-0. PMID: 7188618

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