Sinus of Valsalva Aneurysm Is a Major Feature of FLNA (Filamin A) Loss-of-Function Variants
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.
Authors
- Simone Marziali (ORCID: https://orcid.org/0000-0002-5805-5501)
- Ruggero De Paulis (ORCID: https://orcid.org/0000-0002-3603-2202)
- Simonetta Picone (ORCID: https://orcid.org/0000-0003-3145-9431)
- Giulio Folino (ORCID: https://orcid.org/0000-0002-6708-6617)
- Marco Salvatore (ORCID: https://orcid.org/0000-0001-6402-2610)
- Chiara De Luca
- Paola Fortugno (ORCID: https://orcid.org/0000-0002-0151-6477)
- Francesco Brancati (ORCID: https://orcid.org/0000-0003-3624-2354)
- Alberto Daniele
Institutions
- Vita-Salute San Raffaele University (IT)
- University of L'Aquila (IT)
- Istituto Superiore di Sanità (IT)
- San Raffaele University of Rome (IT)
- IRCCS Ospedale San Raffaele (IT)
- European Hospital (IT)
- Policlinico Casilino (IT)
Publication Details
- Journal
- JACC Case Reports
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1016/j.jaccas.2024.103022
- Primary Topic
- Coronary Artery Anomalies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero della Salute