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Article

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

American journal of medical genetics. Part A - 1 Apr 2023

Lupo Viviana, Di Gregorio Maria Grazia, Mastrogiorgio Gerarda, Magliozzi Monia, Scapillati Maria Eleonora, Maglione Vittorio, Romanelli Ester, Alegiani Caterina, Haass Cristina, Novelli Antonio

Abstract excerpt

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...

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Identifiers

PMID: 36607831
DOI: 10.1002/ajmg.a.63118

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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