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Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome
Two patients with a specific ACTA2 gene mutation and complex birth heart defects expand the known heart problems in multisystem smooth muscle dysfunction syndrome
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Abstract
De novo heterozygous mutations in the ACTA2 gene are associated with Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS).
- Mutations changing R179 to histidine, leucine, or cysteine in ACTA2 are linked to MSMDS.
- Key features of MSMDS include congenital mydriasis, a large persistent ductus arteriosus, aortic aneurysms in childhood, and cerebrovascular anomalies.
- Two patients, a newborn and a 26-year-old, exhibited a huge ductus arteriosus and aorto-pulmonary window due to these mutations.
- One patient had an aortic arch coarctation, while the other had a complete interruption of the aortic arch type A.
- These findings suggest a need for functional alpha 2 smooth muscle actin in cardiovascular organ development.
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