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[Marfan's syndrome. Cardiovascular manifestations and therapeutic indications]
1Service de cardiologie pédiatrique, hôpital, Necker/Enfants-malades, Paris.
Abstract:
Marfan's syndrome is a disease of collagen microfibrils, the essential composition of which, fibrillin, is defective. The coding gene of this large protein has been localised on chromosome 15 and partially cloned. Its mutation is transmitted in the autosomal dominant mode. It is common, affects many organs, especially those rich in collagen. They include the skeleton, the eye and cardiovascular system. The prognosis of these patients depends on the degree of cardiovascular involvement; the aorta is the principal site of the lesions, particularly the aortic root which tends to develop aneurysmal dilatation, then dissection, the main cause of premature death of these patients. Mitral valve prolapse giving rise to mitral regurgitation may also be observed. Much progress has been made is recent years in the management of Marfan's syndrome, especially in ultrasound follow-up of the aortic root and the definition of risk factors for dissection. In parallel, advances have been made in the treatment, both medical with the use of betablockers to try to slow progression to aneurysm, and surgical, in replacement of the aorta and aortic valve in time and under optimal conditions. Life expectancy is thereby significantly increased. Similar progress has been made to allow these patients to have a pregnancy, classically thought to carry a high risk of maternal death.
Insights
Marfan syndrome, a genetic disorder affecting connective tissue, impacts the skeleton, eyes, and cardiovascular system. Advances in medical and surgical treatments significantly improve life expectancy and pregnancy outcomes for affected individuals.
Area of Science:
- Genetics and Molecular Biology
- Cardiovascular Medicine
- Rheumatology
Context:
- Marfan syndrome is a hereditary connective tissue disorder caused by mutations in the fibrillin-1 gene.
- It affects multiple organ systems, including the skeletal, ocular, and cardiovascular systems.
- Cardiovascular complications, particularly aortic root dilatation and dissection, are the primary cause of morbidity and mortality.
Purpose:
- To review the current understanding of Marfan syndrome, focusing on its genetic basis and clinical manifestations.
- To highlight recent advancements in the diagnosis and management of cardiovascular complications.
- To discuss the impact of these advancements on patient prognosis and quality of life.
Summary:
- Defective fibrillin, a key component of collagen microfibrils, underlies Marfan syndrome, with its gene located on chromosome 15 and inherited in an autosomal dominant pattern.
- Cardiovascular involvement, notably aortic root aneurysms and dissections, significantly impacts patient prognosis, while mitral valve prolapse may also occur.
- Recent progress includes improved ultrasound monitoring of the aortic root, identification of dissection risk factors, and enhanced medical (beta-blockers) and surgical treatments, increasing life expectancy.
Impact:
- Improved diagnostic and monitoring tools, such as ultrasound, allow for earlier detection and management of aortic complications.
- Medical and surgical interventions have significantly improved survival rates and quality of life for Marfan syndrome patients.
- Advances in care now enable individuals with Marfan syndrome to safely consider pregnancy, previously considered high-risk.