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Cardiovascular manifestations in Marfan syndrome
S Figueiredo1, E Martins, M R Lima
1Serviço de Cardiologia Pediátrica, Hospital de Crianças M. Pia, Porto.
Introduction:
Cardiovascular complications are the major cause of morbidity and mortality in Marfan syndrome (MS), a common connective tissue disorder. Currently it is considered that the prognosis and morphologic characteristics in infantile Marfan syndrome may be quite different from those reported in older patients. The objective of this study was to analyze the cardiovascular manifestations and evolution of the patients with Marfan syndrome followed at our pediatric cardiac unit.
Methods:
The authors reviewed the clinical files of all the patients that fulfilled the diagnostic criteria for MS according to De Paepe et al. (1996). We analyzed the following parameters: gender, age at referral, race, family history, clinical examination, diagnostic exams, therapy and evolution. The patients were divided into two groups according to the age at diagnosis: infants (group 1) and older patients (group 2).
Results:
Group 1 included 3 infants, two boys and one girl, sporadic cases, presenting congestive heart failure. The major cardiac diagnoses were aortic dilatation (1/3) and mitral valve prolapse with severe mitral regurgitation (2/3). Congenital heart disease was associated in two cases (patent ductus arteriosus and atrial septal defect). Two needed cardiac surgery at an early age and one was recently proposed for surgery. There were no deaths. Group 2 included 20 patients, 14 boys and 6 girls, first seen at a mean age of 8 years. Ten had a positive family history and none presented cardiac symptoms. The major cardiac manifestations were mitral valve prolapse (18/20) and aortic dilatation (17/20). There was no significant progression of the cardiac lesions, except for one case, during the 12 years of follow-up.
Conclusion:
Infantile MS presented high morbidity; mitral regurgitation was severe in two cases. All patients presented heart failure, two needing early operations. In classic MS evolution was favorable, and the commonest cardiac lesions were mitral valve prolapse and aortic dilatation. We emphasize the need for beta-blockers to prevent progression of aortic dilatation. The decision for surgery rests upon the severity of valve regurgitation and the rate of progression of aortic dilatation. It is important to inform patients and family about physical exercise, prevention of endocarditis, risks associated with pregnancy and genetic counseling.
Insights
Infantile Marfan syndrome (MS) presents significant cardiovascular issues like heart failure and mitral regurgitation, often requiring early surgery. Classic MS shows a favorable evolution with common findings of mitral valve prolapse and aortic dilatation.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Marfan syndrome (MS) is a connective tissue disorder with cardiovascular complications being a primary cause of mortality.
- Infantile MS may exhibit different prognostic and morphological characteristics compared to older patients.
- Pediatric cardiac units play a crucial role in managing cardiovascular manifestations in MS.
Observation:
- This study analyzed cardiovascular manifestations and disease progression in pediatric Marfan syndrome patients.
- Patients were categorized into infants (Group 1) and older children (Group 2) based on diagnosis age.
- Clinical files were reviewed for demographics, family history, cardiac assessments, treatment, and outcomes.
Findings:
- Infantile MS (Group 1) presented with high morbidity, including congestive heart failure, severe mitral regurgitation, and aortic dilatation, necessitating early cardiac surgery.
- Older patients (Group 2) typically had mitral valve prolapse and aortic dilatation without significant progression over 12 years.
- Congenital heart defects were noted in two infants.
Implications:
- Early diagnosis and intervention are crucial for managing infantile Marfan syndrome's cardiovascular complications.
- Beta-blockers are recommended to prevent aortic dilatation progression in Marfan syndrome.
- Management decisions for surgery should consider valve regurgitation severity and aortic dilatation rate, alongside patient/family education on lifestyle and risks.