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Visceral myopathy 2(VSCM2)

MedGen UID:
1783630
Concept ID:
C5543466
Disease or Syndrome
Synonyms: VISCERAL MYOPATHY 2; VSCM2
 
Gene (location): MYH11 (16p13.11)
 
Monarch Initiative: MONDO:0859157
OMIM®: 619350

Definition

Visceral myopathy-2 (VSCM2) is characterized by gastrointestinal symptoms resulting from intestinal dysmotility and paresis, including abdominal distention, pain, nausea, and vomiting. Some patients exhibit predominantly esophageal symptoms, with hiatal hernia and severe reflux resulting in esophagitis and stricture, whereas others experience chronic intestinal pseudoobstruction. Bladder involvement resulting in megacystis and megaureter has also been observed and may be evident at birth (Dong et al., 2019; Gilbert et al. (2020)). [from OMIM]

Clinical features

From HPO
Barrett esophagus
MedGen UID:
2551
Concept ID:
C0004763
Disease or Syndrome
Barrett esophagus, or Barrett metaplasia, describes the phenotypic change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium. This metaplastic change is important because patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett metaplasia is gastroesophageal reflux (GER; 109350). The retrograde movement of acid and bile salts from the stomach into the esophagus in this disease causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes (summary by Wong et al., 2005).
Megacystis
MedGen UID:
343318
Concept ID:
C1855311
Finding
Dilatation of the bladder postnatally.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Esophagitis
MedGen UID:
4549
Concept ID:
C0014868
Disease or Syndrome
Inflammation of the esophagus.
Intestinal obstruction
MedGen UID:
43933
Concept ID:
C0021843
Disease or Syndrome
Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.
Intestinal pseudo-obstruction
MedGen UID:
5864
Concept ID:
C0021847
Disease or Syndrome
A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.
Rectal prolapse
MedGen UID:
11151
Concept ID:
C0034888
Disease or Syndrome
Protrusion of the rectal mucous membrane through the anus.
Volvulus
MedGen UID:
21892
Concept ID:
C0042961
Disease or Syndrome
Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.
Gastroparesis
MedGen UID:
101809
Concept ID:
C0152020
Disease or Syndrome
Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.
Intestinal malrotation
MedGen UID:
113153
Concept ID:
C0221210
Congenital Abnormality
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Megaduodenum
MedGen UID:
75604
Concept ID:
C0266177
Congenital Abnormality
Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.
Chronic constipation
MedGen UID:
98325
Concept ID:
C0401149
Sign or Symptom
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
Necrotizing enterocolitis
MedGen UID:
105440
Concept ID:
C0520459
Disease or Syndrome
Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine.
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Esophageal stricture
MedGen UID:
1637009
Concept ID:
C4551650
Disease or Syndrome
A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.
Ineffective esophageal peristalsis
MedGen UID:
1638022
Concept ID:
C4703577
Finding
Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus.
Hiatus hernia
MedGen UID:
483347
Concept ID:
C3489393
Acquired Abnormality
The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.

Professional guidelines

PubMed

Naveed M, Jamil LH, Fujii-Lau LL, Al-Haddad M, Buxbaum JL, Fishman DS, Jue TL, Law JK, Lee JK, Qumseya BJ, Sawhney MS, Thosani N, Storm AC, Calderwood AH, Khashab MA, Wani SB
Gastrointest Endosc 2020 Feb;91(2):228-235. Epub 2019 Nov 30 doi: 10.1016/j.gie.2019.09.007. PMID: 31791596
Krasaelap A, Kovacic K, Goday PS
Nutr Clin Pract 2020 Apr;35(2):265-272. Epub 2019 Jul 18 doi: 10.1002/ncp.10319. PMID: 31321821
Goldstein AM, Thapar N, Karunaratne TB, De Giorgio R
Dev Biol 2016 Sep 15;417(2):217-28. Epub 2016 Apr 6 doi: 10.1016/j.ydbio.2016.03.032. PMID: 27059882

Recent clinical studies

Etiology

Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Pironi L, Arends J, Bozzetti F, Cuerda C, Gillanders L, Jeppesen PB, Joly F, Kelly D, Lal S, Staun M, Szczepanek K, Van Gossum A, Wanten G, Schneider SM; Home Artificial Nutrition & Chronic Intestinal Failure Special Interest Group of ESPEN
Clin Nutr 2016 Apr;35(2):247-307. Epub 2016 Feb 8 doi: 10.1016/j.clnu.2016.01.020. PMID: 26944585
Pereira P, Djeudji F, Leduc P, Fanget F, Barth X
J Visc Surg 2015 Apr;152(2):99-105. Epub 2015 Mar 11 doi: 10.1016/j.jviscsurg.2015.02.004. PMID: 25770746
Pironi L, Arends J, Baxter J, Bozzetti F, Peláez RB, Cuerda C, Forbes A, Gabe S, Gillanders L, Holst M, Jeppesen PB, Joly F, Kelly D, Klek S, Irtun Ø, Olde Damink SW, Panisic M, Rasmussen HH, Staun M, Szczepanek K, Van Gossum A, Wanten G, Schneider SM, Shaffer J; Home Artificial Nutrition & Chronic Intestinal Failure; Acute Intestinal Failure Special Interest Groups of ESPEN
Clin Nutr 2015 Apr;34(2):171-80. Epub 2014 Sep 21 doi: 10.1016/j.clnu.2014.08.017. PMID: 25311444
Jones MP, Wessinger S
Curr Opin Gastroenterol 2006 Mar;22(2):111-6. doi: 10.1097/01.mog.0000203867.33008.52. PMID: 16462165

Diagnosis

Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Pereira P, Djeudji F, Leduc P, Fanget F, Barth X
J Visc Surg 2015 Apr;152(2):99-105. Epub 2015 Mar 11 doi: 10.1016/j.jviscsurg.2015.02.004. PMID: 25770746
Pironi L, Arends J, Baxter J, Bozzetti F, Peláez RB, Cuerda C, Forbes A, Gabe S, Gillanders L, Holst M, Jeppesen PB, Joly F, Kelly D, Klek S, Irtun Ø, Olde Damink SW, Panisic M, Rasmussen HH, Staun M, Szczepanek K, Van Gossum A, Wanten G, Schneider SM, Shaffer J; Home Artificial Nutrition & Chronic Intestinal Failure; Acute Intestinal Failure Special Interest Groups of ESPEN
Clin Nutr 2015 Apr;34(2):171-80. Epub 2014 Sep 21 doi: 10.1016/j.clnu.2014.08.017. PMID: 25311444
Baron TH
Gastrointest Endosc Clin N Am 2007 Apr;17(2):323-39, vi. doi: 10.1016/j.giec.2007.03.001. PMID: 17556151
Hirano I, Pandolfino J
Dig Dis 2000;18(2):83-92. doi: 10.1159/000016969. PMID: 11060471

Therapy

Naveed M, Jamil LH, Fujii-Lau LL, Al-Haddad M, Buxbaum JL, Fishman DS, Jue TL, Law JK, Lee JK, Qumseya BJ, Sawhney MS, Thosani N, Storm AC, Calderwood AH, Khashab MA, Wani SB
Gastrointest Endosc 2020 Feb;91(2):228-235. Epub 2019 Nov 30 doi: 10.1016/j.gie.2019.09.007. PMID: 31791596
Pironi L, Arends J, Bozzetti F, Cuerda C, Gillanders L, Jeppesen PB, Joly F, Kelly D, Lal S, Staun M, Szczepanek K, Van Gossum A, Wanten G, Schneider SM; Home Artificial Nutrition & Chronic Intestinal Failure Special Interest Group of ESPEN
Clin Nutr 2016 Apr;35(2):247-307. Epub 2016 Feb 8 doi: 10.1016/j.clnu.2016.01.020. PMID: 26944585
Pereira P, Djeudji F, Leduc P, Fanget F, Barth X
J Visc Surg 2015 Apr;152(2):99-105. Epub 2015 Mar 11 doi: 10.1016/j.jviscsurg.2015.02.004. PMID: 25770746
Saunders MD
Gastrointest Endosc Clin N Am 2007 Apr;17(2):341-60, vi-vii. doi: 10.1016/j.giec.2007.03.007. PMID: 17556152
Hirano I, Pandolfino J
Dig Dis 2000;18(2):83-92. doi: 10.1159/000016969. PMID: 11060471

Prognosis

Yoshimaru K, Matsuura T, Uchida Y, Sonoda S, Maeda S, Kajihara K, Kawano Y, Shirai T, Toriigahara Y, Kalim AS, Zhang XY, Takahashi Y, Kawakubo N, Nagata K, Yamaza H, Yamaza T, Taguchi T, Tajiri T
Surg Today 2024 Sep;54(9):977-994. Epub 2023 Sep 5 doi: 10.1007/s00595-023-02741-6. PMID: 37668735
Sandy NS, Huysentruyt K, Mulder DJ, Warner N, Chong K, Morel C, AlQahtani S, Wales PW, Martin MG, Muise AM, Avitzur Y
J Pediatr Gastroenterol Nutr 2022 May 1;74(5):575-581. doi: 10.1097/MPG.0000000000003400. PMID: 35149643Free PMC Article
Holt PR
Dig Dis 2007;25(2):144-50. doi: 10.1159/000099479. PMID: 17468550
Hirano I, Pandolfino J
Dig Dis 2000;18(2):83-92. doi: 10.1159/000016969. PMID: 11060471
Bagwell CE, Filler RM, Cutz E, Stringer D, Ein SH, Shandling B, Stephens CA, Wesson DE
J Pediatr Surg 1984 Dec;19(6):732-9. doi: 10.1016/s0022-3468(84)80360-7. PMID: 6440967

Clinical prediction guides

Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Piché J, Van Vliet PP, Pucéat M, Andelfinger G
Cell Cycle 2019 Nov;18(21):2828-2848. Epub 2019 Sep 13 doi: 10.1080/15384101.2019.1658476. PMID: 31516082Free PMC Article
Haj M, Haj M, Rockey DC
Medicine (Baltimore) 2018 Jul;97(27):e11187. doi: 10.1097/MD.0000000000011187. PMID: 29979381Free PMC Article
Li Z, Xu D, Wang Z, Wang Y, Zhang S, Li M, Zeng X
Lupus 2017 Oct;26(11):1127-1138. Epub 2017 May 19 doi: 10.1177/0961203317707825. PMID: 28523968
Hayden GE, Sprouse KL
Emerg Med Clin North Am 2011 May;29(2):319-45, ix. doi: 10.1016/j.emc.2011.01.004. PMID: 21515182

Recent systematic reviews

Reichert M, Willis F, Post S, Schneider M, Vilz T, Willis M, Hecker A
Int J Surg 2024 Jul 1;110(7):4329-4341. doi: 10.1097/JS9.0000000000001393. PMID: 38526522Free PMC Article
Sakakibara R, Sawai S, Ogata T
Auton Neurosci 2022 Nov;242:103018. Epub 2022 Jul 8 doi: 10.1016/j.autneu.2022.103018. PMID: 35863181
Sandy NS, Huysentruyt K, Mulder DJ, Warner N, Chong K, Morel C, AlQahtani S, Wales PW, Martin MG, Muise AM, Avitzur Y
J Pediatr Gastroenterol Nutr 2022 May 1;74(5):575-581. doi: 10.1097/MPG.0000000000003400. PMID: 35149643Free PMC Article
Bazerbachi F, Haffar S, Szarka LA, Wang Z, Prokop LJ, Murad MH, Camilleri M
Neurogastroenterol Motil 2017 Nov;29(11) Epub 2017 Jun 5 doi: 10.1111/nmo.13120. PMID: 28580600
Li Z, Xu D, Wang Z, Wang Y, Zhang S, Li M, Zeng X
Lupus 2017 Oct;26(11):1127-1138. Epub 2017 May 19 doi: 10.1177/0961203317707825. PMID: 28523968

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