![]() ![]() Further research studies are needed in order to prove a direct association of the cardiovascular problems in fragile X premutation carriers because such knowledge will lead to better preventative treatment. This article reviews cardiovascular problems in premutation carriers and discusses possible contributing mechanisms including RNA toxicity and mild fragile X mental retardation protein deficiency. Some arterial problems and valvular heart diseases have also been reported. ![]() Cardiovascular problems particularly autonomic dysfunction, hypertension, and cardiac arrhythmias are not uncommon in premutation carriers. The mechanism of RNA toxicity underlies all of the premutation disorders including fragile X-associated tremor/ataxia syndrome, fragile X-associated primary ovarian insufficiency, and fragile X-associated neuropsychiatric disorder. The FMR1 expansion in the premutation range leads to toxic RNA gain-of-function resulting in cellular dysregulation. There is a dearth of information about cardiovascular problems in fragile X premutation carriers who have 55–200 CGG repeats in fragile X mental retardation 1 ( FMR1) gene. 5Department of Pediatrics, University of California, Davis, Davis, School of Medicine, Sacramento, CA, United States.4Division of Cardiovascular Medicine, Department of Internal Medicine, UC Davis Medical Center, Sacramento, CA, United States.3Fragile X Alliance Clinic, Genetic Clinics Australia, Melbourne, VIC, Australia. ![]()
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