BACKGROUND: Marfan's syndrome is an inherited disorder of connective tissue 
associated with characteristic abnormalities of the skeletal, ocular, and 
cardiovascular systems. Marked clinical variability and age dependency of all 
manifestations of Marfan's syndrome may render the unequivocal diagnosis 
difficult in mildly affected, young subjects.
HYPOTHESIS: The study and care of a 32-year-old woman with evidence of Marfan's 
syndrome, several cardiac abnormalities, and paranoid schizophrenia led to an 
investigation of her consenting relatives to verify the penetrance of Marfan's 
syndrome and the degree of comorbidity between the disease and psychiatric 
disorders.
METHODS: The patient and 12 subjects belonging to three generations of her 
family underwent cardiovascular, skeletal, ophthalmologic, and psychiatric 
examinations. Two-dimensional and Doppler echocardiography were performed.
RESULTS: One female index patient and six of her first-degree relatives were 
found to be affected by Marfan's syndrome. All seven patients were found to have 
mitral valve prolapse associated with other cardiac abnormalities. Four of these 
patients were affected by the following psychiatric disorders: generalized 
anxiety disorder, major depressive disorder, paranoid schizophrenia (two cases). 
Six more relatives without Marfan's syndrome showed mitral valve prolapse in 
association with other echocardiographic features. Two of these were found to be 
affected by a major depressive disorder.
CONCLUSIONS: The present data support the hypothesis that a psychiatric 
condition, associated with a significantly high frequency of cardiac 
involvement, may be part of the phenotype of Marfan's syndrome.