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Genetic dissection of marfan syndrome and related connective tissue disorders: an update 2012
1Department of Human Genetics, Ruhr-University, Bochum, Germany.
Abstract:
Marfan syndrome (MFS) is an autosomal dominant disorder of the connective tissue characterized by early development of thoracic aortic aneurysms/dissections together with symptoms of the ocular and skeletal systems. While most patients/families with a classic phenotypic expression of MFS harbour mutations in the gene encoding fibrillin-1 (FBN1), genetic studies of the recent years revealed that the clinical features, as well as the mutated genes, show a high degree of overlap between MFS and other connective tissue diseases (e.g. Loeys-Dietz syndrome, Ehlers-Danlos syndrome, familial thoracic aneurysms and dissections and others). We summarize herein the current knowledge about the wide spectrum of differential diagnoses and their genetic background as well as novel therapeutic approaches in order to provide appropriate counselling and clinical follow-up for the patients.
Insights
Marfan syndrome (MFS) involves connective tissue, affecting the aorta, eyes, and skeleton. Genetic overlap with other disorders necessitates comprehensive diagnosis and tailored treatments for effective patient management.
Area of Science:
- Genetics
- Cardiology
- Ophthalmology
- Orthopedics
Background:
- Marfan syndrome (MFS) is an inherited connective tissue disorder.
- It commonly presents with thoracic aortic aneurysms and dissections, alongside ocular and skeletal manifestations.
- FBN1 gene mutations are typical in classic MFS cases.
Purpose of the Study:
- To review the differential diagnoses of Marfan syndrome.
- To explore the genetic underpinnings of overlapping connective tissue diseases.
- To discuss emerging therapeutic strategies for patient care.
Main Methods:
- Literature review of genetic studies and clinical findings.
- Analysis of overlapping phenotypes between MFS and related conditions.
- Synthesis of current knowledge on diagnostic and therapeutic approaches.
Main Results:
- Marfan syndrome shares clinical and genetic features with other connective tissue diseases.
- Differential diagnoses include Loeys-Dietz syndrome, Ehlers-Danlos syndrome, and familial thoracic aneurysms/dissections.
- Genetic heterogeneity complicates diagnosis but guides personalized treatment.
Conclusions:
- Accurate diagnosis requires considering a spectrum of differential diagnoses.
- Understanding genetic backgrounds is crucial for effective patient counseling and follow-up.
- Novel therapeutic strategies aim to improve outcomes for patients with MFS and related disorders.
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