ArticlePediatric research2015
Intrinsic cardiomyopathy in Marfan syndrome: results from in-vivo and ex-vivo studies of the Fbn1C1039G/+ model and longitudinal findings in humans.
Article in Pediatric research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 55 citations in OpenAlex.
- The aorta in Marfan syndrome: from molecular mechanisms to mechanobiological dysfunction.Cardiovascular research · 2026Review
- Systematic Disruption of Zebrafish Fibrillin Genes Identifies a Translational Zebrafish Model for Marfan Syndrome.JACC. Basic to translational science · 2026Article
- Excessive glycosylation drives thoracic aortic aneurysm formation through integrated stress response.European heart journal · 2025Article
- Intrinsic cardiomyopathy in pediatric Marfan syndrome: predictive factors and risk assessments.Pediatric research · 2025Article
- Marfan syndrome cardiomyocytes show excess of titin isoform N2BA and extended sarcomeric M-band.The Journal of general physiology · 2025Article
- Magnetic Resonance Imaging of Temporomandibular Joint and Aortic Root Score in Fibrillinopathies.Medicina (Kaunas, Lithuania) · 2024Article
- The perspective of cAMP/cGMP signaling and cyclic nucleotide phosphodiesterases in aortic aneurysm and dissection.Vascular pharmacology · 2024Review
- The extracellular matrix glycoprotein fibrillin-1 in health and disease.Frontiers in cell and developmental biology · 2023Review
- Cardiac Complications in Marfan Syndrome: A Review.Cureus · 2022Review
- The Multiple Functions of Fibrillin-1 Microfibrils in Organismal Physiology.International journal of molecular sciences · 2022Review
- Postsystolic thickening is a potential new clinical sign of injured myocardium in marfan syndrome.Scientific reports · 2021Article
- Non-aortic cardiovascular disease in Marfan syndrome: a nationwide epidemiological study.Clinical research in cardiology : official journal of the German Cardiac Society · 2021Article
- An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome.Journal of experimental pharmacology · 2021Review
- Cardiomyopathy in Genetic Aortic Diseases.Frontiers in pediatrics · 2021Review
- Myocardial disease and ventricular arrhythmia in Marfan syndrome: a prospective study.Orphanet journal of rare diseases · 2020Article
- Effects of fibrillin mutations on the behavior of heart muscle cells in Marfan syndrome.Scientific reports · 2020Article
- Myocardial Function, Heart Failure and Arrhythmia in Marfan Syndrome: A Systematic Literature Review.Diagnostics (Basel, Switzerland) · 2020Review
- Spontaneous Right Ventricular Pseudoaneurysms and Increased Arrhythmogenicity in a Mouse Model of Marfan Syndrome.International journal of molecular sciences · 2020Article
- MEK1/2 Inhibition in Murine Heart and Aorta After Oral Administration of Refametinib Supplemented Drinking Water.Frontiers in pharmacology · 2020Article
- The Potential Beneficial Effects of Resveratrol on Cardiovascular Complications in Marfan Syndrome Patients⁻Insights from Rodent-Based Animal Studies.International journal of molecular sciences · 2019Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMild intrinsic cardiomyopathy in patients with Marfan syndrome (MFS) has consistently been evidenced by independent research groups. So far, little is known about the long-term evolution and pathophysiology of this finding.
methodsTo gain more insights into the pathophysiology of MFS-related cardiomyopathy, we performed in-vivo and ex-vivo studies of 11 Fbn1(C1039G/+) mice and 9 wild-type (WT) littermates. Serial ultrasound findings obtained in mice were correlated to the human phenotype. We therefore reassessed left ventricular (LV) function parameters over a 6-y follow-up period in 19 previously reported MFS patients, in whom we documented mild LV dysfunction.
resultsFbn1(C1039G/+) mice demonstrated LV contractile dysfunction. Subsequent ex-vivo studies of the myocardium of adult mutant mice revealed upregulation of TGFβ-related pathways and consistent abnormalities of the microfibrillar network, implicating a role for microfibrils in the mechanical properties of the myocardium. Echocardiographic parameters did not indicate clinical significant deterioration of LV function during follow-up in our patient cohort.
conclusionIn analogy with what is observed in the majority of MFS patients, the Fbn1(C1039G/+) mouse model demonstrates mild intrinsic LV dysfunction. Both extracellular matrix and molecular alterations are implicated in MFS-related cardiomyopathy. This model may now enable us to study therapeutic interventions on the myocardium in MFS.
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