ArticleClinical cardiology2014
Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromes.
Article in Clinical cardiology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 40 citations in OpenAlex.
- Circulating interleukin-6 (IL-6) levels are associated with aortic dimensions in genetic aortic conditions.PloS one · 2019Trial
- Emerging imaging and circulating biomarkers in relation to underlying mechanisms in Bicuspid Aortic Valve aortopathy.International journal of cardiology. Heart & vasculature · 2025Review
- Expression Profile of TGFB1 Gene in Pediatric Patients with Isolated Bicuspid Aortic Valve.Pediatric cardiology · 2025Article
- TGFβ level in healthy and children with Marfan syndrome-effective reduction under sartan therapy.Frontiers in pediatrics · 2024Article
- Molecular Mechanisms in Genetic Aortopathy-Signaling Pathways and Potential Interventions.International journal of molecular sciences · 2023Review
- 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
- The Predictive Role of Plasma Biomarkers in the Evolution of Aortopathies Associated with Congenital Heart Malformations.International journal of molecular sciences · 2022Review
- Transforming growth factor serum concentrations in patients with proven non-syndromic aortopathy.Frontiers in cardiovascular medicine · 2022Article
- Atypical Expression of Smooth Muscle Markers and Co-activators and Their Regulation in Rheumatic Aortic and Calcified Bicuspid Valves.Frontiers in cardiovascular medicine · 2022Article
- Update in Biomolecular and Genetic Bases of Bicuspid Aortopathy.International journal of molecular sciences · 2021Review
- Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection.Molecular genetics & genomic medicine · 2020Article
- Role of cytokines and inflammation in heart function during health and disease.Heart failure reviews · 2018Review
- Novel Approaches for BAV Aortopathy Prediction-Is There a Need for Cohort Studies and Biomarkers?Biomolecules · 2018Review
- Thoracic Aortic Aneurysm Development in Patients with Bicuspid Aortic Valve: What Is the Role of Endothelial Cells?Frontiers in physiology · 2017Review
- Pathogenic Mechanisms of Bicuspid Aortic Valve Aortopathy.Frontiers in physiology · 2017Review
- Marfan syndrome: current perspectives.The application of clinical genetics · 2016Review
- Increased Transforming Growth Factor-β Levels Associated With Cardiac Adverse Events in Hypertrophic Cardiomyopathy.Clinical cardiology · 2015Article
- Molecular mechanisms of inherited thoracic aortic disease - from gene variant to surgical aneurysm.Biophysical reviews · 2015Article
- A Methodology for Concomitant Isolation of Intimal and Adventitial Endothelial Cells from the Human Thoracic Aorta.PloS one · 2015Article
- Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome.The application of clinical genetics · 2015Review
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTotal serum transforming growth factor-beta 1 (tsTGF-β1) is increased in patients with Marfan syndrome (MFS), but it has not been assessed in thoracic aortic aneurysm and dissection (TAAD), Loeys-Dietz syndrome (LDS), and bicuspid aortic valve disease (BAVD). HYPOTHESIS: tsTGF-β1 is increased in genetic aortic syndromes including TAAD, LDS, MFS, and BAVD.
methodsWe measured tsTGF-β1 and performed sequencing of the genes FBN1, TGFBR1, and TGFBR2 in 317 consecutive patients with suspected or known genetic aortic syndrome (167 men, 150 women; mean age 43 ± 14 years). TAAD was diagnosed in 20, LDS in 20, MFS in 128, and BAVD in 30 patients, and genetic aortic syndrome was excluded in 119 patients.
resultsElevated tsTGF-β1 levels were associated with causative gene mutations (P = 0.008), genetic aortic syndrome (P = 0.009), and sporadic occurrence of genetic aortic syndrome (P = 0.048), whereas only genetic aortic syndrome qualified as an independent predictor of tsTGF-β1 (P = 0.001). The tsTGF-β1 levels were elevated in FBN1 and NOTCH1 mutations vs patients without mutations (both P = 0.004), and in NOTCH1 mutations vs ACTA2/MYH11 mutations (P = 0.015). Similarly, tsTGF-β1 levels were elevated in MFS (P = 0.003) and in BAVD (P = 0.006) vs patients without genetic aortic syndrome. In contrast to specific clinical features of MFS, FBN1 in-frame mutations (P = 0.019) were associated with increased tsTGF-β1 levels.
conclusionstsTGF-β1 is elevated in the entire spectrum of genetic aortic syndromes. However, gradual differences in the increases of tsTGF-β1 levels may mirror different degrees of alteration of tsTGF-β1 signaling in different genetic aortic syndromes.
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