ArticleMolecular genetics & genomic medicine2018
Survival, causes of death, and cardiovascular events in patients with Marfan syndrome.
Article in Molecular genetics & genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Skeletal muscle alterations in Marfan syndrome: a systematic review.Journal of muscle research and cell motility · 2025Pooled it
- Cancer Risk in Marfan Syndrome: A Swedish Population-Based Cohort Study.International journal of cancer · 2026Article
- Heritable Thoracic Aortic Diseases in Pediatric Practice: From Molecular Mechanisms to Genotype-Informed Management, a Comprehensive Narrative Review.Journal of clinical medicine · 2026Review
- Prognostic factors in patients with Marfan syndrome referred to a cardiac surgery center: a retrospective cohort study.BMC cardiovascular disorders · 2026Article
- Downregulation ofMolecular therapy. Nucleic acids · 2026Article
- Physical fitness and level of physical activity in adult patients with Marfan syndrome.Orphanet journal of rare diseases · 2025Article
- Marfan syndrome cardiomyocytes show excess of titin isoform N2BA and extended sarcomeric M-band.The Journal of general physiology · 2025Article
- Comparative Analysis of Perivascular Adipose Tissue Attenuation on Chest Computed Tomography Angiography in Patients with Marfan Syndrome: A Case-Control Study.Diagnostics (Basel, Switzerland) · 2025Article
- Establishment of a Stacking Machine Learning Model Predicting Cardiac Phenotype in Ectopia Lentis Patients Based on Genotype and Ocular Phenotype.International journal of medical sciences · 2025Article
- Case Report: Challenges in the surgical treatment of Marfan-associated aortic aneurysms: a literature review starting from a clinical case.Frontiers in surgery · 2025Article
- Hereditary Aortopathies as Cause of Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Medicine.Diseases (Basel, Switzerland) · 2024Review
- Integrated DNA methylation analysis reveals a potential role for PTPRN2 in Marfan syndrome scoliosis.JOR spine · 2024Article
- Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies.Diagnostics (Basel, Switzerland) · 2023Review
- Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.Journal of the American Heart Association · 2023Article
- Editorial: Aortopathy in congenital heart disease.Frontiers in cardiovascular medicine · 2023Article
- Biology of mitral valve prolapse: from general mechanisms to advanced molecular patterns-a narrative review.Frontiers in cardiovascular medicine · 2023Review
- A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report.European heart journal. Case reports · 2022Article
- Determine Cumulative Radiation Dose and Lifetime Cancer Risk in Marfan Syndrome Patients Who Underwent Computed Tomography Angiography of the Aorta in Northeast Thailand: A 5-Year Retrospective Cohort Study.Tomography (Ann Arbor, Mich.) · 2022Article
- Functional Analysis of an Intronic FBN1 Pathogenic Gene Variant in a Family With Marfan Syndrome.Frontiers in genetics · 2022Article
- Age and sex dependency of thoracic aortopathy in a mouse model of Marfan syndrome.American journal of physiology. Heart and circulatory physiology · 2022Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTo explore survival, causes of death, and the prevalence of cardiovascular events in a Norwegian Marfan syndrome (MFS) cohort. MFS is a heritable connective tissue disorder associated with reduced life expectancy-primarily due to aortic pathology.
methodsA follow-up study of 84 MFS adults, initially investigated in 2003-2004. In 2014-2015, 16 were deceased, 47 of 68 survivors consented to new clinical investigations. Analyses of events were performed for 47 survivors and 16 deceased at follow-up. Standardized mortality ratios (SMR), using the mortality rate of the Norwegian population as reference, were calculated for all 84 and calculated for men and women separately. Causes of death and information on cardiovascular events were retrieved from death certificates and medical records.
resultsStandardized mortality ratios (95% confidence interval): for the whole cohort: 5.24 (3.00-8.51); for men: 8.20 (3.54-16.16); for women: 3.85 (1.66-7.58). Cardiovascular causes were found in 11 of 16 deceased, eight of these related to aortic pathology. Cancer was the cause of death in three patients. At follow-up, 51% had new cardiovascular events; 59% had undergone aortic surgery. Men experienced aortic events at younger age than women. 32% of the survivors were not followed-up as recommended.
conclusionLife expectancy is reduced in this MFS cohort compared to the Norwegian population. Cardiovascular complications develop throughout life, particularly aortic pathology, the major cause of death in MFS. Death and aortic pathology seem to occur earlier in men. There is a need to improve follow-up according to guidelines.
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