Association between psychiatric disorders and marfan's syndrome in a large sardinian family with a high prevalence of cardiac abnormalities

Abstract

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 Manfan'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.

The Genetics of Major Depression: Moving Beyond the Monoamine Hypothesis

“…While neither of these conditions is likely to operate in depression, the discovery and definition of a rare familial variant would still accelerate the development of greater insight into etiologic mechanisms. There have been few reports of notable pedigrees segregating an identifiably high-penetrance syndrome involving depression27, 28, and even then, these have typically demonstrated additional psychiatric disorders other than MDD in members of the same family. A comprehensive summary of MDD linkage studies was recently published24 and will not be repeated here.…”

Neuropsychiatric complications in a patient with Marfan syndrome

“…MFS patients are also found to be susceptible to schizophrenia and other psychiatric conditions (2)(3)(4)(5)(6)(7). Here, we report an MFS patient presenting with mental dysfunction because of bilateral cerebral infarction, which is a neurovascular complication of MFS.…”

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

“…Case reports reported on individuals and their families with coexistence of Marfan syndrome and schizophrenia [324][325][326][327][328][329][330][331][332][333][334]. Some early papers suggested that symptoms of schizophrenia are a part of Marfan syndrome, and later papers have suggested that the cause of schizophrenia should be linked to the FBN1 gene.…”

“…Eight papers described the coexistence of Marfan syndrome and depression [329,[335][336][337][338][339][340][341]. However, again, most are case reports with questionable clinical data regarding the diagnosis of Marfan syndrome.…”