Multisystemic smooth muscle dysfunction syndrome explained

Synonym:Congenital mydriasis[1]

Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a genetic disorder caused by R179 missense mutations in the ACTA2 gene. Initially described as a case report in 1999,[2] it was characterized in 2010[3] as a syndrome of congenital mydriasis, patent ductus arteriosus, and aneurysmal arterial disease—in particular aortic and thoracic aneurysms. The disorder has variable penetrance, ranging from severely symptomatic and fatal in early neonatal period to a more benign and manageable course with surgical intervention.

Signs and symptoms

Signs and symptoms are usually detectable prenatally or shortly after birth.[4] In its severe manifestations, MSMDS has been associated with prune belly sequence. In less severe forms, the earliest signs of MSMDS are congenital fixed mydriasis (can be misdiagnosed as partial aniridia), and a PDA requiring surgical intervention. Most carriers of the mutation will eventually develop thoracic arterial disease between the ages of 10–25.

Pathogenesis

The most commonly associated mutation with MSMDS is R179H.

Management

Management of MSMDS requires lifelong surveillance and surgical intervention when required. The first comprehensive guidelines were published in 2018 by the same group that first categorized the syndrome in 2010.[5]

Notes and References

  1. Web site: Multisystemic smooth muscle dysfunction syndrome Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . rarediseases.info.nih.gov . 25 September 2019.
  2. Adès. L. C.. Davies. R.. Haan. E. A.. Holman. K. J.. Watson. K. C.. Sreetharan. D.. Cao. S. N.. Milewicz. D. M.. Bateman. J. F.. October 1999. Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. Clinical Dysmorphology. 8. 4. 269–276. 0962-8827. 10532176.
  3. Milewicz . Dianna M. . Østergaard . John R. . Ala-Kokko . Leena M. . Khan . Nadia . Grange . Dorothy K. . Mendoza-Londono . Roberto . Bradley . Timothy J. . Olney . Ann Haskins . Adès . Lesley . Maher . Joseph F. . Guo . Dongchuan . Buja . L. Maximilian . Kim . Dong . Hyland . James C. . Regalado . Ellen S. . De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction . American Journal of Medical Genetics Part A . 23 August 2010 . 152A . 10 . 2437–2443 . 10.1002/ajmg.a.33657 . 20734336 . 3573757 . 1552-4825.
  4. Richer . J. . Milewicz . D.M. . Gow . R. . de Nanassy . J. . Maharajh . G. . Miller . E. . Oppenheimer . L. . Weiler . G. . O'Connor . M. . R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations . American Journal of Medical Genetics Part A . 2 February 2012 . 158A . 3 . 664–668 . 10.1002/ajmg.a.35206 . 22302747 . 1552-4825. free .
  5. Regalado . Ellen S . Mellor-Crummey . Lauren . De Backer . Julie . Braverman . Alan C . Ades . Lesley . Benedict . Susan . Bradley . Timothy J . Brickner . M Elizabeth . Chatfield . Kathryn C . Child . Anne . Feist . Cori . Holmes . Kathryn W . Iannucci . Glen . Lorenz . Birgit . Mark . Paul . Morisaki . Takayuki . Morisaki . Hiroko . Morris . Shaine A . Mitchell . Anna L . Ostergaard . John R . Richer . Julie . Sallee . Denver . Shalhub . Sherene . Tekin . Mustafa . Estrera . Anthony . Musolino . Patricia . Yetman . Anji . Pyeritz . Reed . Milewicz . Dianna M . Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations . Genetics in Medicine . 20 . 10 . 1206–1215 . 4 January 2018 . 10.1038/gim.2017.245 . 29300374 . 6034999 . 1098-3600.

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