Multiple Vasculopathies and Heart Failure in Patient With ACTA-2 Mutation

A 28-year-old woman was admitted to hospital for the treatment of acute heart failure due to severe aortic regurgitation. She had a history of patent ductus arteriosus treated with ligation in infancy. Echocardiography demonstrated left ventricular dysfunction and severe aortic regurgitation due to annuloaortic ectasia. Computed tomography showed thoracic (54 mm) and abdominal aortic aneurysms (Figure A; Supplementary Movie). Brain magnetic resonance imaging revealed abnormalities, including straightening and narrowing of the cerebral arteries (Figure B), a characteristic finding of patients with ACTA-2 gene mutations. The patient underwent successful David procedure after improvement of heart failure. Specimen from the aorta showed a loss of elastic fibers in the media with elastica van Gieson stain (Figure C). Genetic testing confirmed a mutation of the patient’s ACTA-2 gene (c535C >T:p Arg179Cys). ACTA-2 encodes vascular smooth muscle actins and mutations cause various types of vasculopathy, including aortic disease, coronary artery disease, and stroke.^1,2

Figure.

(A) Reconstructed computed tomography showing thoracic and abdominal aortic aneurysms. (B) Brain magnetic resonance imaging showing the abnormalities including straightening and narrowing of the cerebral arteries. (C) Specimen of the ascending aortic aneurysm showing a loss of elastic fibers in the media (elastica van Gieson stain; yellow arrows).

Disclosures

J.A. is a member of Circulation Journal’s Editorial Team.

Supplementary Files

Supplementary Movie. Computed tomographic scan of the aorta in a patient with ACTA-2 gene mutation.

Please find supplementary file(s);

http://dx.doi.org/10.1253/circj.CJ-21-0405

References

• 1.   Guo DC, Pannu H, Fadulu VT, Papke CL, Yu RK, Avidan N, et al. Mutations in smooth muscle a-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 2007; 39: 1488–1493.
• 2.   Regalado ES, Crummey LM, Baker JD, Braverman AC, Ades L, Benedict S, et al. Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations. Genet Med 2018; 20: 1206–1215.