ArticleAmerican journal of medical genetics. Part A2018
Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.
Article in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.
- X-linked genetic associations in sporadic thoracic aortic dissection.American journal of medical genetics. Part A · 2024Pooled it
- Heritable Thoracic Aortic Diseases in Pediatric Practice: From Molecular Mechanisms to Genotype-Informed Management, a Comprehensive Narrative Review.Journal of clinical medicine · 2026Review
- Growth arrest of thoracic aortic aneurysms in aging Marfan mice.American journal of physiology. Heart and circulatory physiology · 2026Article
- Lip piercing-related prosthetic aortic graft infection and mediastinitis in filaminopathy: A case report.Journal of vascular surgery cases and innovative techniques · 2026Article
- Beyond Diameter: Insights From the Aortic Wall in FLNA-Related Aortopathy.JACC. Case reports · 2026Article
- Extended Root and Arch Replacement for Filamin A-Related Aortopathy With Severe Aortic Regurgitation.JACC. Case reports · 2026Article
- Severe Pectus Excavatum: Unusual Cause of Sudden Cardiac Death Linked to a Novel Genetic Variant.JACC. Case reports · 2026Article
- "Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study".Acta neurologica Belgica · 2025Article
- The Expanding Genetic Architecture of Arteriopathies: From Canonical TAAD Genes to Emerging Connective Tissue and Signaling Pathways.Medical sciences (Basel, Switzerland) · 2025Review
- Mechanisms of aortic dissection: From pathological changes to experimental andProgress in materials science · 2025Article
- Sinus of Valsalva Aneurysm Is a Major Feature of FLNA (Filamin A) Loss-of-Function Variants.JACC. Case reports · 2025Article
- Modulation of Abnormal Vasoconstriction Through 2-Hydroxyisobutyrylation of Tropomyosin 3 Lys141: Targeting Histone Deacetylase 3 as a Key Approach.Journal of the American Heart Association · 2025Article
- Article
- Polyvalvular Dysplasia and Vascular Abnormalities in a Neonate With anJACC. Case reports · 2024Article
- Secondary spontaneous pneumothorax as the presenting manifestation of filamin A-associated lung disease.ERJ open research · 2024Article
- Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals.Journal of the American Heart Association · 2024Article
- Corkscrew Mesenteric Arteries and Tortuous Descending Aorta in Autosomal Recessive Cutis Laxa.Radiology. Cardiothoracic imaging · 2023Article
- Article
- Inhibition of the Renin-Angiotensin System Fails to Suppress β-Aminopropionitrile-Induced Thoracic Aortopathy in Mice-Brief Report.Arteriosclerosis, thrombosis, and vascular biology · 2022Article
- Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection.Diagnostics (Basel, Switzerland) · 2022Review
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
The frequency and gender distribution of thoracic aortic aneurysm as a cardiovascular manifestation of loss-of-function (LOF) X-linked FilaminA (FLNA) mutations are not known. Furthermore, there is very limited cardiovascular morbidity or mortality data in children and adults. We analyzed cardiac data on the largest series of 114 patients with LOF FLNA mutations, both children and adults, with periventricular nodular heterotopia (PVNH), including 48 study patients and 66 literature patients, median age of 22.0 years (88 F, 26 M, range: 0-71 years), with 75 FLNA mutations observed in 80 families. Most (64.9%) subjects had a cardiac anomaly or vascular abnormality (80.8% of males and 60.2% of females). Thoracic aortic aneurysms or dilatation (TAA) were found in 18.4% (n = 21), and were associated with other structural cardiac malformations in 57.1% of patients, most commonly patent ductus arteriosus (PDA) and valvular abnormalities. TAA most frequently involved the aortic root and ascending aorta, and sinus of Valsalva aneurysms were present in one third of TAA patients. Six TAA patients (28.5%) required surgery (median age 37 yrs, range 13-41 yrs). TAA with its associated complications was also the only recorded cause of premature, non-accidental mortality in adults (2 M, 2 F). Two adult patients (1 F, 1 M, median 38.5 yrs), died of spontaneous aortic rupture at aortic dimensions smaller than current recommendations for surgery for other aortopathies. Data from this largest series of LOF FLNA mutation patients underscore the importance of serial follow-up to identify and manage these potentially devastating cardiovascular complications.
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