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Cardiac Complications in Marfan Syndrome: A Review
1Department of Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Wardha, IND.
Cureus
|November 7, 2022
Summary
Marfan syndrome (MFS), a genetic connective tissue disorder caused by FBN1 gene mutations, significantly impacts the heart, eyes, and skeleton. Cardiovascular complications, particularly aortic aneurysms, are the primary cause of mortality in MFS patients.
Area of Science:
- Genetics
- Cardiology
- Rheumatology
Background:
- Marfan syndrome (MFS) is a rare, autosomal dominant inherited connective tissue disorder.
- It stems from mutations in the fibrillin-1 (FBN1) gene, leading to defective microfibrils and increased active transforming growth factor beta (TGFβ).
- MFS affects multiple systems, notably the cardiovascular, ocular, and musculoskeletal systems.
Purpose of the Study:
- To review the cardiac complications associated with Marfan syndrome.
- To understand the pathogenesis, incidence, and outcomes of these cardiovascular manifestations.
- To provide an overview of rare complications like post-Bentall graft infection.
Main Methods:
- Literature review of global research articles on Marfan syndrome.
- Analysis of data regarding pathogenesis, incidence, and outcomes of cardiac complications.
- Synthesis of information on diagnosis and management of MFS-related cardiac issues.
Main Results:
- Cardiovascular manifestations are the leading cause of mortality in MFS.
- Aortic aneurysm and dissection are the most common and severe complications.
- Cardiomyopathy and arrhythmia also pose significant risks.
Conclusions:
- Marfan syndrome's cardiac complications are critical and require thorough understanding.
- Early diagnosis and management, guided by criteria like the Ghent criteria, are essential.
- Addressing aortic complications and other cardiac issues is vital for improving patient outcomes.
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