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[Marfan syndrome: prevalence and natural course of cardiovascular manifestations]
Y von Kodolitsch1, M Raghunath, C A Nienaber
1Universitätskrankenhaus Eppendorf Innere Medizin II, Abteilung für Kardiologie, Hamburg.
Abstract:
The Marfan syndrome is an autosomal dominant disorder of the connective tissue with mutations on the fibrillin-1 gene encoding for fibrillin, a major component of the extracellular microfibrils. The prevalence of the syndrome is 7-17/100,000. The mean life expectancy for untreated patients with Marfan syndrome is 32 years with aortic dissection, aortic rupture or cardiac failure due to mitral and aortic valve regurgitation as the predominant cause of death in > 90% of the cases. In severely affected cases with neonatal Marfan syndrome, patients are likely to survive only a few months. According to the literature database the prevalence of aortic dilatation is 76%, 26% for aortic regurgitation, 62% for mitral valve prolapse, and 29% for mitral valve regurgitation in adult patients with classic Marfan syndrome. Pathogenesis and the natural cause of each cardiovascular manifestation is thoroughly discussed with the problems resulting from associated cardiac arrhythmias, sudden cardiac death, endocarditis, and less frequent cardiovascular manifestations of the Marfan syndrome. Special focus is placed on the analysis of cardiovascular complications during pregnancy.
Insights
Marfan syndrome, a genetic connective tissue disorder, significantly reduces life expectancy due to cardiovascular complications like aortic dissection. Early diagnosis and management are crucial for patients with this fibrillin-1 gene mutation.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Pathology
Context:
- Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the fibrillin-1 gene.
- It affects approximately 7-17 individuals per 100,000.
- Untreated patients have a mean life expectancy of 32 years, with cardiovascular issues being the primary cause of mortality.
Purpose:
- To provide a comprehensive overview of Marfan syndrome, focusing on its cardiovascular manifestations.
- To discuss the pathogenesis, natural course, and complications of cardiovascular involvement.
- To highlight the specific challenges of cardiovascular complications during pregnancy in Marfan syndrome patients.
Summary:
- The fibrillin-1 gene mutation leads to defective extracellular microfibrils, impacting connective tissue throughout the body.
- Cardiovascular complications, including aortic dilatation (76%), aortic regurgitation (26%), mitral valve prolapse (62%), and mitral regurgitation (29%), are prevalent in adult patients.
- Severe neonatal cases have a drastically reduced survival rate, often only a few months.
Impact:
- This review underscores the critical impact of Marfan syndrome on cardiovascular health and longevity.
- It emphasizes the need for vigilant monitoring and management of cardiovascular risks, including arrhythmias and sudden cardiac death.
- Understanding these complications is vital for improving patient outcomes and guiding clinical practice, especially in pregnant individuals.