Related Experiment Video
Updated: Feb 16, 2026
Biological Preparation and Mechanical Technique for Determining Viscoelastic Properties of Zonular Fibers
Published on: December 16, 2021
Non-cardiac manifestations of Marfan syndrome
1Molecular and Clinical Sciences Research Institute, St George's University of London, Cranmer Terrace, London, UK.
Abstract:
Because of the widespread distribution of fibrillin 1 in the body, Marfan syndrome (MFS) affects virtually every system. The expression of this single dominantly inherited gene is variable within a family, and between families. There is some genotype-phenotype correlation which is helpful in guiding long-term prognosis, and management. In general gene mutations have been reported in clusters, with those having mainly ocular manifestations occurring in exons 1 to 15 of this 65-exon gene; those causing cardiac problems often involving cysteine replacement in a calcium binding EGF-like sequence; the most severe mutations occurring in exons 25-32, causing neonatal MFS diagnosed at birth, and severe enough to cause death frequently before the age of 2. Other correlations will certainly be found in future. This condition is progressive, and the manifestations unfold according to age. For example, if the lens is going to dislocate this usually occurs by age 10; scoliosis usually presents itself between the ages of 8 and 15; height should be monitored carefully between the onset of puberty and cessation of growth approximately age 17 or 18. Holistic care should be offered by one doctor who oversees the patient's welfare. This should be a paediatrician, paediatric cardiologist, or general practitioner in the case of an affected child. Thereafter, the physician in charge of the most seriously affected system should be aware that other systems need to be managed through a referral network.
Insights
Marfan syndrome (MFS), a genetic disorder affecting multiple body systems, shows variable gene expression and genotype-phenotype correlations. Understanding these patterns aids in prognosis and management of this progressive condition.
Area of Science:
- Genetics
- Systemic Diseases
- Connective Tissue Disorders
Background:
- Marfan syndrome (MFS) is a multisystemic disorder caused by mutations in the fibrillin-1 gene.
- The condition exhibits variable gene expression, even within families, complicating prognosis and management.
- Understanding genotype-phenotype correlations is crucial for guiding patient care.
Purpose of the Study:
- To review the current understanding of genotype-phenotype correlations in Marfan syndrome.
- To highlight the progressive nature of MFS and age-dependent manifestations.
- To emphasize the need for holistic, multidisciplinary care for MFS patients.
Main Methods:
- Review of existing literature on Marfan syndrome genetics and clinical manifestations.
- Analysis of genotype-phenotype correlations based on mutation location within the fibrillin-1 gene.
- Description of the age-related progression of common MFS symptoms.
Main Results:
- Specific mutation clusters in the fibrillin-1 gene correlate with distinct clinical features (ocular, cardiac, severe neonatal MFS).
- Mutations in exons 1-15 are often associated with ocular issues, while exons 25-32 harbor severe mutations leading to neonatal MFS.
- Progressive manifestations include lens dislocation by age 10, scoliosis between ages 8-15, and growth-related changes until age 17-18.
Conclusions:
- Genotype-phenotype correlations in Marfan syndrome provide valuable insights for prognosis and management strategies.
- The progressive and age-dependent nature of MFS necessitates continuous monitoring and tailored interventions.
- Holistic care coordinated by a primary physician, with a referral network for specialist management, is essential for optimal patient outcomes.
Related Concept Videos
01:30Aneurysm I: Introduction
01:30Coronary Artery Disease III: Clinical Manifestations
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
01:23Mitral Stenosis II: Clinical features and Diagnostic Tests
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
01:22Mitral Valve Prolapse II: Assessment and Management