Multisystemic smooth muscle dysfunction

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Classification according to ICD-10
I73.8 Other specified peripheral vascular diseases
ICD-10 online (WHO version 2019)

The Multisystem dysfunction of smooth muscles (MSMDS) is a very rare congenital disease with the main features of dilated pupils ( mydriasis ), heart failure ( Patent ductus arteriosus ), aneurysm of the aorta in the chest ( Thoracic aortic aneurysm ) and other vascular diseases ( vasculopathy ).

Synonyms are: MSMD syndrome; MSMDS; English Multisystemic smooth muscle dysfunction syndrome; Congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy

The first description comes from the year 1999 by the Australian human geneticist Leslie C. Adès and colleagues, the characterization as a syndrome was carried out in 2010 by the American doctor Dianna M. Milewicz and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

root cause

Of the disease are nonsense mutations in ACTA2 - gene on chromosome 10 locus q23.31 based coding for smooth muscle α-actin of the aorta coded.

Clinical manifestations

Clinical criteria are:

The combination of a large PDA with mydriasis should lead to a suspected diagnosis of an ACTA2 mutation.

literature

  • ES Regalado, L. Mellor-Crummey, J. De Backer et al .: Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations. In: Genetics in medicine: official journal of the American College of Medical Genetics. Volume 20, number 10, 10 2018, pp. 1206-1215, doi: 10.1038 / gim.2017.245 , PMID 29300374 , PMC 6034999 (free full text).
  • N. Khan, A. Schinzel, B. Shuknecht, F. Baumann, JR Østergaard, Y. Yonekawa: Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? In: European neurology. Volume 51, number 2, 2004, pp. 72-77, doi: 10.1159 / 000076248 , PMID 14730227 .
  • BD Lemire, JR Buncic, SJ Kennedy, SJ Dyack, AS Teebi: Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: new syndromic spectrum? In: American journal of medical genetics. Part A. Volume 131, Number 3, December 2004, pp. 318-319, doi: 10.1002 / ajmg.a.30341 , PMID 15472996 .

Individual evidence

  1. ↑ a b c Multisystemic smooth muscle dysfunction. In: Orphanet (Rare Disease Database).
  2. ↑ LC Adès, R. Davies, EA Haan, KJ Holman, KC Watson, D. Sreetharan, SN Cao, DM Milewicz, JF Bateman, AA Chiodo, M. Eccles, L. McNoe, M. Harbord: Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. In: Clinical dysmorphology. Volume 8, Number 4, October 1999, pp. 269-276, PMID 10532176 .
  3. ↑ DM Milewicz, JR Østergaard, LM Ala-Kokko et al .: De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. In: American journal of medical genetics. Part A. Volume 152A, number 10, October 2010, pp. 2437-2443, doi: 10.1002 / ajmg.a.33657 , PMID 20734336 , PMC 3573757 (free full text).
  4. ↑ a b Multisystemic smooth muscle dysfunction syndrome.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ H. Schmitz, C. Hesse et al. a .: Multisystemic Smooth Muscle Dysfunction Syndrome: An Unusual Cause for a Gigantic PDA with Bilateral Mydriasis. In: The Thoracic and Cardiovascular Surgeon. 64, 2016, doi: 10.1055 / s-0036-1571933 .

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