Cardiovascular manifestations in Marfan syndrome

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.

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).

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.

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.