[Prevalence of cardiovascular manifestations in Marfan syndrome]
Maria Cristina Porciani1, Monica Attanasio, Valentina Lepri
1Centro di Riferimento Regionale per la Sindrome di Marfan e Malattie Correlate, Clinica Medica e Cardiologia, Università degli Studi, Firenze.
Insights
In Marfan syndrome, mitral valve prolapse and aortic dilation are the most common cardiovascular issues. Other conditions like septal defects and bicuspid valves were not more prevalent than in the general population.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Connective Tissue Disorders
Context:
- Marfan syndrome is an inherited connective tissue disorder affecting multiple systems.
- Cardiovascular complications, particularly thoracic aortic aneurysm/dissection, are the leading cause of mortality.
- Understanding the prevalence of specific cardiovascular manifestations is crucial for patient management.
Purpose:
- To determine the prevalence of cardiovascular manifestations in a cohort of 227 Marfan syndrome patients.
- To identify the most frequent cardiac abnormalities in individuals with Marfan syndrome.
Summary:
- Aortic dilation (75.8%) and mitral valve prolapse (78.9%) were the most prevalent cardiovascular findings.
- Aortic insufficiency (36.6%) and mitral insufficiency (72.7%) were also common.
- Interatrial septal defects and bicuspid aortic valves occurred at rates similar to the general population.
Impact:
- Highlights mitral valve prolapse and aortic dilation as key cardiovascular concerns in Marfan syndrome.
- Provides data for risk stratification and targeted interventions in Marfan syndrome patients.
- Underscores the need for longitudinal studies to track cardiovascular progression in Marfan syndrome.
Background:
Marfan syndrome is an inherited connective tissue disorder with an autosomic dominant transmission. The prevalence is 1:5000-10 000 and the clinical major criteria involve the skeletal and ocular apparatus and the cardiovascular and central nervous system. The main cause of morbidity is represented by the thoracic aortic dissection/aneurysm that is responsible for 80% of the deaths.
Methods:
We performed a clinical study on 227 patients enrolled at our Clinical and Research Marfan and Related Disorders Center. The aim of this study was to describe the prevalence of cardiovascular manifestation in this cohort of patients.
Results:
Aortic dilation was present in 172 patients (75.8%), mitral valve prolapse in 179 (78.9%). Aortic insufficiency was present in 83 patients (36.6%), mitral insufficiency in 165 (72.7%). When analyzed separately, in < 10-year and > 40-year patients aortic dilation was more prevalent than mitral valve prolapse. Three patients presented with interatrial septal defect, 4 aortic bicuspid valve; 23 had a history of ventricular and supraventricular arrhythmias, and in 2 patients an implantable cardioverter device had been implanted. Fifty-seven patients were treated with beta-blockers and 28 had been operated for aortic aneurysmal dilation.
Conclusions:
In Marfan syndrome mitral valve prolapse and aortic dilation are the main cardiovascular manifestations, interatrial septal defect and aortic bicuspid valve had the same prevalence than in subjects without Marfan syndrome. These data refer to our first patient evaluation; further studies are needed to evaluate the progression and the natural history of cardiovascular manifestations in Marfan syndrome.
Related Concept Videos
01:30Aneurysm I: Introduction
01:30Coronary Artery Disease III: Clinical Manifestations
01:27Mitral Valve Prolapse I: Introduction
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
01:22Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
01:22Mitral Valve Prolapse II: Assessment and Management