G. Mercuro et al., ASSOCIATION BETWEEN PSYCHIATRIC-DISORDERS AND MARFANS-SYNDROME IN A LARGE SARDINIAN FAMILY WITH A HIGH PREVALENCE OF CARDIAC ABNORMALITIES, Clinical cardiology, 20(3), 1997, pp. 243-245
Background: Marfan's syndrome is an inherited disorder of connective t
issue associated with characteristic abnormalities of the skeletal, oc
ular, and cardiovascular systems. Marked clinical variability and age
dependency of all manifestations of Marfan's syndrome may render the u
nequivocal diagnosis difficult in mildly affected, young subjects. Hyp
othesis: The study and care of a 32-year-old woman with evidence of Ma
nfan's syndrome, several cardiac abnormalities, and paranoid schizophr
enia 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 su
bjects belonging to three generations of her family underwent cardiova
scular, skeletal, ophthalmologic, and psychiatric examinations. Two-di
mensional and Doppler echocardiography were performed. Results: One fe
male index patient and six of her first-degree relatives were found to
be affected by Marfan's syndrome. All seven patients were found to ha
ve mitral valve prolapse associated with other cardiac abnormalities.
Four of these patients were affected by the following psychiatric diso
rders: generalized anxiety disorder, major depressive disorder, parano
id schizophrenia (two cases). Six more relatives without Marfan's synd
rome showed mitral valve prolapse in association with other echocardio
graphic features. Two of these were found to be affected by a major de
pressive disorder. Conclusions: The present data support the hypothesi
s that a psychiatric condition, associated with a significantly high f
requency of cardiac involvement, may be part of the phenotype of Marfa
n's syndrome.