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Article Abstract
A 23-year-old woman underwent valve-sparing root replacement for an asymmetric aneurysm affecting the sinuses of Valsalva (SVA). Genetic analysis revealed a novel variant in the FLNA gene leading to frameshift and a premature stop codon in Filamin A. SVA, typically multiple and affecting the coronary sinus, is a cardinal feature and a handle for diagnosis of FLNA deficiency.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11911888 | PMC |
| http://dx.doi.org/10.1016/j.jaccas.2024.103022 | DOI Listing |
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