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

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

Chiara De Luca ¹, Arianna Di Daniele ¹, Simone Marziali ², Simonetta Picone ³, Marco Salvatore ⁴, Giulio Folino ⁵, Paola Fortugno ⁶, Ruggero De Paulis ⁵, Francesco Brancati ⁷

Chiara De Luca ¹, Arianna Di Daniele ¹, Simone Marziali ²

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

⁰Department of Life, Health and Environmental Science, University of L'Aquila, Italy.

Jacc. Case Reports +

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March 7, 2025

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View abstract on PubMed

Summary

This summary is machine-generated.

A novel FLNA gene variant causing a premature stop codon was identified in a patient with an aortic aneurysm. This finding highlights Sinus of Valsalva aneurysm as a key diagnostic indicator for Filamin A deficiency.

Area Of Science

Cardiovascular Surgery
Genetics
Vascular Biology

Background

Aortic aneurysms, particularly those affecting the sinuses of Valsalva (SVA), can be associated with genetic connective tissue disorders.
Filamin A (FLNA) deficiency is a rare condition that can manifest with vascular abnormalities.

Keywords:

FLNA sinus of Valsalva aneurysm vascular hereditary connective tissue disorders

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