Sinus of Valsalva Aneurysm Is a Major Feature of FLNA (Filamin A) Loss-of-Function Variants

Chiara De Luca; Arianna Di Daniele; Simone Marziali; Simonetta Picone; Marco Salvatore; Giulio Folino; Paola Fortugno; Ruggero De Paulis; Francesco Brancati

doi:10.1016/j.jaccas.2024.103022

Sinus of Valsalva Aneurysm Is a Major Feature of FLNA (Filamin A) Loss-of-Function Variants

JACC Case Rep. 2025 Mar 5;30(5):103022. doi: 10.1016/j.jaccas.2024.103022.

Authors

Chiara De Luca¹, Arianna Di Daniele¹, Simone Marziali², Simonetta Picone³, Marco Salvatore⁴, Giulio Folino⁵, Paola Fortugno⁶, Ruggero De Paulis⁵, Francesco Brancati⁷

Affiliations

¹ Department of Life, Health and Environmental Science, University of L'Aquila, Italy.
² IRCCS San Raffaele Cassino, Cassino, Italy; IRCCS San Raffaele Pisana Roma, Rome, Italy.
³ Neonatology and Neonatal Intensive Care Unit, Policlinico Casilino, Rome, Italy.
⁴ National Centre for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Rome, Italy.
⁵ Department of Cardiac Surgery, European Hospital and UniCamillus University Rome, Italy.
⁶ Human Functional Genetics Laboratory, IRCCS San Raffaele Pisana Roma, Rome, Italy; Università Telematica San Raffaele, Rome, Italy.
⁷ Department of Life, Health and Environmental Science, University of L'Aquila, Italy; Human Functional Genetics Laboratory, IRCCS San Raffaele Pisana Roma, Rome, Italy. Electronic address: francesco.brancati@univaq.it.

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.

Keywords: FLNA; sinus of Valsalva aneurysm; vascular hereditary connective tissue disorders.

Publication types

Case Reports