Case report reveals a novel loss-of-function FLNA variant in a patient with sinus of Valsalva aneurysm, indicating this vascular defect is a cardinal diagnostic sign of filamin A deficiency.
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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Luca et al. (2025) studied this question.
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