Clinical and neuroimaging features of a familial pathogenic ACTA2 variant as a model of a vascular neurocristopathy

Neuroradiology. 2022 Sep;64(9):1773-1780. doi: 10.1007/s00234-022-02945-6. Epub 2022 Apr 14.

Abstract

The clinical and neuroimaging findings of a family with a variant ACTA2 gene (c351C > G), presenting with smooth muscle dysfunction in structures of neural crest derivation, are discussed. The combination of aortic abnormalities, patent ductus arteriosus, congenital mydriasis and distinctive cerebrovascular and brain morphological abnormalities characterise this disorder. Two sisters, heterozygous for the variant, and their mother, a mosaic, are presented. Brain parenchymal changes are detailed for the first time in a non-Arg179His variant. Radiological features of the petrous canal and external carotid are highlighted. We explore the potential underlying biological and embryological mechanisms.

Keywords: ACTA 2; Congenital mydriasis; Hyoid artery; Ophthalmic artery; Patent ductus arteriosus; Stapedial artery; Variant.

Publication types

  • Case Reports

MeSH terms

  • Actins
  • Ductus Arteriosus, Patent* / genetics
  • Ductus Arteriosus, Patent* / pathology
  • Eye Diseases, Hereditary* / genetics
  • Eye Diseases, Hereditary* / pathology
  • Female
  • Humans
  • Muscle, Smooth / pathology
  • Mydriasis* / genetics
  • Mydriasis* / pathology
  • Neuroimaging

Substances

  • ACTA2 protein, human
  • Actins