Impact of cardiac anomalies in the prognosis of patients with velo-cardio-facial syndrome
Impact of cardiac anomalies in the prognosis of patients with velo-cardio-facial syndrome

Summary/Abstract: One of the most common multiple anomaly syndromes in human is the velo-cardio-facialsyndrome (VCFS). A very important step in managing a patient with a 22q11.2 deletion is toidentify the exact phenotypic manifestations so that appropriate counseling and anticipatorycare can be provided. Patients with VCFS have a 25 times higher rate of psychosis thangeneral population. Therefore, it is almost certain that a genomic factor or factors in thedeleted region influence brain development and/or function. Childhood psychiatricmanifestations of VCFS include mood dysregulation, anxiety disorders, attention deficithyperactivity disorder (ADHD) and autism spectrum disorders. VCFS is the most commonly known genetic risk factor for schizophrenia. The 25% risk of developing schizophrenia is agreat concern of the patients and their families given its gravity and social stigma. Regardingthe psychopharmacological treatment, the therapies need to be carefully chosen, taking intoaccount literature data on tolerability and efficacy. Thus, it is particularly important to knowthe features and symptoms of the disease in order to a good evaluation and monitoring of thepatient. A multidisciplinary approach is fundamental to ensure that the patient will be able toattain his or her maximal potential.

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