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Updated: Sep 23, 2025

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Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.

Anita Kaw1, Kaveeta Kaw1, Ellen M Hostetler1

  • 1Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.

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Summary

New ACTA2 gene variants cause smooth muscle dysfunction syndrome (SMDS), a multisystem disorder. Identifying these pathogenic variants is crucial for managing vascular and nonvascular complications in patients with SMDS.

Keywords:
ACTA2Smooth Muscle Dysfunction Syndromethoracic aortic disease

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Area of Science:

  • Genetics and Molecular Biology
  • Cardiovascular Medicine
  • Rare Diseases

Background:

  • Pathogenic variants in the ACTA2 gene, which encodes smooth muscle α-actin, are linked to thoracic aortic aneurysms and dissections.
  • Specific ACTA2 variants affecting arginine 179 lead to a severe, multisystemic condition known as smooth muscle dysfunction syndrome (SMDS).
  • SMDS is characterized by vascular issues like patent ductus arteriosus (PDA), early-onset thoracic aortic disease (TAD), and moyamoya-like cerebrovascular disease, alongside non-vascular smooth muscle dysfunctions.

Purpose of the Study:

  • To describe five patients with novel heterozygous ACTA2 missense variants.
  • To correlate these variants with clinical manifestations aligning with or overlapping SMDS.
  • To emphasize the importance of identifying pathogenic ACTA2 variants for patient management and understanding SMDS pathogenesis.

Main Methods:

  • Clinical characterization of five patients with novel ACTA2 missense variants (p.Arg179Gly, p.Met46Arg, p.Thr204Ile, p.Arg39Cys, p.Ile66Asn).
  • Correlation of identified variants with specific clinical phenotypes, including vascular and non-vascular complications.
  • Review of existing literature on ACTA2 variants and SMDS.

Main Results:

  • Patients with ACTA2 p.Arg179Gly and p.Thr204Ile variants presented with classic SMDS features.
  • A patient with the ACTA2 p.Met46Arg variant showed only vascular SMDS complications (early-onset TAD, PDA, moyamoya-like disease).
  • The ACTA2 p.Ile66Asn variant was associated with a rare internal carotid artery aneurysm, while ACTA2 p.Arg39Cys led to pulmonary, gastrointestinal, and genitourinary issues without vascular manifestations.

Conclusions:

  • Novel ACTA2 variants contribute to a spectrum of clinical presentations associated with smooth muscle dysfunction syndrome.
  • Early identification of pathogenic ACTA2 variants is critical for proactive surveillance and management of both vascular and non-vascular complications.
  • Further research into these variants will enhance our understanding of SMDS molecular pathogenesis and guide therapeutic strategies.