Neonatal diagnosis of ACTA2-related disease: A case report and review of literature

Am J Med Genet A. 2023 Apr;191(4):1111-1118. doi: 10.1002/ajmg.a.63118. Epub 2023 Jan 6.

Abstract

Multisystemic smooth muscle dysfunction syndrome (MSMDS, OMIM # 613834) is a rare autosomal dominant condition caused by pathogenetic variants of ACTA2 gene that result in impaired muscle contraction. MSMDS is characterized by an increased susceptibility to aneurismal dilatations and dissections, patent ductus arteriosus, early onset coronary artery disease, congenital mydriasis, chronic interstitial lung disease, hypoperistalsis, hydrops of gall bladder, and hypotonic bladder. Here, we report an early diagnosis of a MSMDS related to ACTA2 p.Arg179His (R179H) mutation in a newborn and performed a review of the literature. An early diagnosis of MSMDS is extremely important, because of the severe involvement of cardiovascular system in the MSMDS. Multidisciplinary care and surveillance and timely management of symptoms are important to reduce the risk of complications.

Keywords: ACTA2; congenital mydriasis; hypotonic bladder; multisystemic smooth muscle dysfunction syndrome; next generation sequencing.

Publication types

  • Review
  • Case Reports

MeSH terms

  • Actins / genetics
  • Ductus Arteriosus, Patent* / genetics
  • Eye Diseases, Hereditary* / genetics
  • Humans
  • Infant, Newborn
  • Mutation
  • Mydriasis* / diagnosis
  • Mydriasis* / genetics
  • Pupil Disorders*

Substances

  • ACTA2 protein, human
  • Actins