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Journal of the American College of... Jun 2021
Topics: Cardiovascular System; Humans; Marfan Syndrome; Phenotype
PubMed: 34140104
DOI: 10.1016/j.jacc.2021.04.073 -
European Review For Medical and... Sep 2023Marfan syndrome (MFS) is a systemic connective tissue disease that commonly and most severely affects the ocular, skeletal, and cardiovascular systems. The aim of the... (Review)
Review
Marfan syndrome (MFS) is a systemic connective tissue disease that commonly and most severely affects the ocular, skeletal, and cardiovascular systems. The aim of the manuscript is to review the aortic involvement and complications in MFS, including aortal dissection, thoracic aortic aneurysm, abdominal aortic aneurysm, and acute aortic syndrome. Dissecting thoracic aortic aneurysm and progressing aortic root enlargement are the major causes of MFS morbidity and mortality. Guidelines on aortic disease endorsed by the American College of Cardiology, and the American Heart Association recommend the measurement of the external and internal aortic diameters perpendicular to the axis of blood flow when Computed Tomography, or Magnetic Resonance Imaging, or Cardiac Echography are performed. The pathophysiology, diagnosis, prevention, and medical and surgical treatments of MFS associated with aortic complications are reported in this narrative review. Development and strengthening of centers specialized in cardiovascular diseases and MFS, together with an improvement in the knowledge of its pathogenesis through genetics and proteomics investigations, can ameliorate the prognosis of this disease.
Topics: United States; Humans; Marfan Syndrome; Aorta; Aortic Dissection; Aortic Aneurysm, Abdominal; Acute Aortic Syndrome; Aortic Aneurysm, Thoracic
PubMed: 37750650
DOI: 10.26355/eurrev_202309_33582 -
JAMA May 2023
Topics: Humans; Marfan Syndrome
PubMed: 37058316
DOI: 10.1001/jama.2023.3826 -
Journal of the American Heart... Oct 2020
Topics: Androgens; Animals; Aortic Aneurysm, Thoracic; Fibrillin-1; Male; Marfan Syndrome; Mice; Transforming Growth Factor beta
PubMed: 33059494
DOI: 10.1161/JAHA.120.018814 -
Nigerian Journal of Clinical Practice May 2022
Topics: Humans; Marfan Syndrome; Treatment Outcome
PubMed: 35593622
DOI: 10.4103/njcp.njcp_131_22 -
Journal of the American College of... Mar 2020
Topics: Aortic Dissection; DNA Mutational Analysis; Fibrillin-1; Genetic Variation; Humans; Marfan Syndrome
PubMed: 32130919
DOI: 10.1016/j.jacc.2019.12.042 -
The Journal of Thoracic and... Mar 2022
Topics: Fluoroquinolones; Humans; Marfan Syndrome
PubMed: 33189346
DOI: 10.1016/j.jtcvs.2020.10.057 -
BMC Pediatrics Oct 2023Marfan syndrome is a genetic connective tissue disorder affecting skeletal, ocular, and cardiovascular organ systems. Previous research found that pathogenic variants...
BACKGROUND
Marfan syndrome is a genetic connective tissue disorder affecting skeletal, ocular, and cardiovascular organ systems. Previous research found that pathogenic variants clustered in exons 24-32 of fibrillin-1 (FBN1) gene result in more severe clinical phenotypes. Furthermore, genotype-phenotype correlation studies suggested that more severe cardiovascular phenotypes were related to variants held responsible for haploinsufficiency. Our objective was to analyze the differences in clinical manifestations and genotypes of individuals with early-onset Marfan syndrome and to assess their impact on management strategies.
METHODS
We analyzed clinical and genetic data of a new patient with early-onset Marfan syndrome together with 51 previously reported ones in the PubMed database between 1991 and 2022.
RESULTS
Analysis showed 94% (49/52) of pathogenic variants clustered in exons 24-32 of the FBN1. The most common skeletal features were arachnodactyly (98%), reduced elbow extension (48%), pectus deformity (40%), and scoliosis (39%). Haploinsufficiency variants were reported as having poor outcome in 87.5% of the cases. Among patients carrying variants that substitute a cysteine for another amino acid and those that do not change cysteine content, cardiac intervention was found to be associated with a better outcome (p = 0.035 vs. p = 0.002). Variants that create an extra cysteine residue were found to be associated with a higher risk of ectopia lentis. Additionally, children up to 36-months-old were more often reported as still alive at the time of publication compared to newborns (p < 0.01).
CONCLUSIONS
Our findings have implications for prognosis, because different genotype groups and their resulting phenotype may require personalized care and management.
Topics: Child; Humans; Infant, Newborn; Child, Preschool; Marfan Syndrome; Fibrillins; Cysteine; Mutation; Genotype; Phenotype; Prognosis
PubMed: 37891508
DOI: 10.1186/s12887-023-04357-8 -
Journal of the American College of... Sep 2023
Topics: Humans; Marfan Syndrome; Rare Diseases
PubMed: 37673509
DOI: 10.1016/j.jacc.2023.07.004 -
Heart (British Cardiac Society) Oct 2023The eye is prone to various forms of afflictions, either as a manifestation of primary ocular disease or part of systemic disease, including the cardiovascular system. A... (Review)
Review
The eye is prone to various forms of afflictions, either as a manifestation of primary ocular disease or part of systemic disease, including the cardiovascular system. A thorough cardiovascular examination should include a brief ocular assessment. Hypertension and diabetes, for example, would present with retinopathy and dyslipidaemia would present with corneal arcus. Multisystem autoimmune diseases, such as Graves' disease, rheumatoid arthritis and sarcoidosis, would present with proptosis, episcleritis and scleritis, respectively. Myasthenia gravis, while primarily a neuromuscular disease, presents with fatigable ptosis and is associated with Takotsubo cardiomyopathy and giant cell myocarditis. Connective tissue diseases such as Marfan syndrome, which commonly presents with aortic root dilatation, would be associated with ectopia lentis and myopia. Wilson's disease, which is associated with arrhythmias and cardiomyopathies, would present usually with the characteristic Kayser-Fleischer rings. Rarer diseases, such as Fabry disease, would be accompanied by ocular signs such as cornea verticillata and such cardiac manifestations include cardiac hypertrophy as well as arrhythmias. This review examines the interplay between the eye and the cardiovascular system and emphasises the use of conventional and emerging tools to improve diagnosis, management and prognostication of patients.
Topics: Humans; Hepatolenticular Degeneration; Marfan Syndrome; Cardiovascular System; Heart; Copper
PubMed: 37507215
DOI: 10.1136/heartjnl-2022-322081