Work

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

Year: 2025

Type: article

Study design: Case Report

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.

Source: JACC Case Reports

DOI: 10.1016/j.jaccas.2024.103022

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

Institutions: University of L'Aquila, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele, Policlinico Casilino, Istituto Superiore di Sanità, Saint Camillus International University of Health and Medical Sciences, European Hospital, San Raffaele University of Rome

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $850

Funders: Ministero della Salute, Ministero dell'Istruzione e del Merito

OpenAlex ID: W4408221285

FWCI: 0.535

Cites: 9

Cited by: 1

Related to: 10