Marfan syndrome: literature review of mortality studies
1Address: Lincoln Re, PO Box 7808, 1700 Magnavox Way, Fort Wayne, IN 46801-7808, USA. kjkrause@lnc.com
Abstract:
Marfan syndrome is an autosomal dominant heritable disorder of fibrous connective tissue due to mutation in the fibrillin-1 gene, located on chromosome 15. Early mortality from Marfan syndrome results from aortic dilatation. The medical literature contains long-term follow-up series of patients with Marfan syndrome accrued at major medical centers that address overall survival following surgical intervention, and prognosis in relation to certain risk factors such as family history and aortic root diameter. Mortality analyses based on these data are presented in this paper. Advances in surgical and medical therapy have improved mortality of affected individuals over the past 2-3 decades. However, significant mortality occurs, peaking in the third and fourth decades of life. Although surgery is successful treatment of aortic dissection, one cannot conclude that surgical repair confers a mortality advantage. Emergency surgery and history of aortic complications in first-degree relatives are associated with a higher mortality. Chronic beta-blocker therapy may slow the rate of aortic dilatation and may be associated with more favorable prognosis. Clinical research evaluating beta-blockade, echo assessment of the aortic root diameter progression, and gene mutation analysis may provide tools useful for future morality assessments.
Insights
Marfan syndrome patients face significant mortality, particularly in their third and fourth decades, despite surgical advances. Beta-blocker therapy may improve prognosis by slowing aortic dilatation.
Area of Science:
- Genetics and Molecular Biology
- Cardiovascular Medicine
- Connective Tissue Disorders
Background:
- Marfan syndrome is an autosomal dominant disorder affecting fibrous connective tissue, caused by fibrillin-1 gene mutations.
- Aortic dilatation is the primary cause of early mortality in Marfan syndrome patients.
- Previous studies have examined survival rates and risk factors like family history and aortic root diameter.
Purpose of the Study:
- To analyze mortality data in Marfan syndrome patients using long-term follow-up series.
- To evaluate the impact of surgical interventions and risk factors on patient survival.
- To assess the potential benefits of medical therapies like beta-blockers and future diagnostic tools.
Main Methods:
- Analysis of mortality data from long-term follow-up series of Marfan syndrome patients.
- Evaluation of survival rates in relation to surgical interventions and specific risk factors.
- Review of the potential impact of chronic beta-blocker therapy and diagnostic advancements.
Main Results:
- Despite improvements in surgical and medical therapies, significant mortality persists, peaking in the third and fourth decades of life.
- Emergency surgery and a history of aortic complications in first-degree relatives are linked to higher mortality.
- Chronic beta-blocker therapy may slow aortic dilatation and is associated with a more favorable prognosis.
Conclusions:
- Surgical repair for aortic dissection, while successful, does not definitively confer a mortality advantage in Marfan syndrome.
- Identifying high-risk individuals through family history and monitoring aortic root diameter is crucial.
- Further research into beta-blockade, echocardiographic assessment, and gene mutation analysis can refine mortality predictions.
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