Aortic hypoplasia and cardiac valvular abnormalities in a boy with fragile X syndrome

Abstract

An 18-year-old mentally retarded male with the Martin-Bell syndrome was fragile X positive. He died suddenly with viral pneumonia and myocarditis. At autopsy, generalized tubular hypoplasia of the aorta and a mild coarctation were discovered. The base of the mitral and tricuspid valves showed striking aberrations in elastin distribution and structure by light microscopy. Local collagen alterations were also noted. Comparable changes were seen in the skin elastin as well as a severe depletion of acid mucopolysaccharides. These changes suggest a structural disruption underlying the clinical connective tissue problems in some patients with the fragile X syndrome.

Fragile‐X syndrome – a 20‐year follow‐up study of male patients

“…Almost one third died during the follow‐up period, many of them at a young age, even though some have questioned the effect of FXS on lifespan . Sudden deaths in FXS males are reported , and in our case, the patient's ID was most likely a contributing factor to sudden death. They may not have described their health problems to carers nor known how to seek medical care.…”

Aging in fragile X syndrome

“…In this study 24% were diagnosed with hypertension, and although this is not significantly different from the general population it may be an underestimate of the true incidence of this problem in FXS. Hypertension may be more likely in individuals with FXS because of the sympathetic hyperarousal documented in this syndrome (Miller et al 1999) and possibly because of elastin abnormalities in the vessel walls as was documented in one patient with FXS (Waldstein and Hagerman 1988). A recent neuropathology study of three older men with FXS who died (they are included in this study) showed significant evidence of hyaloid changes in the blood vessels presumed to be secondary to hypertensive disease.…”

Fragile X syndrome: A review of clinical management

“…Many of the medical problems in FXS, such as OM, MVP, GERD, hernias, joint dislocation, and flat feet are related to the connective tissue problems inherent in the syndrome. These connective tissue problems are related to the lack of FMRP on the structure of the elastin fibrils in the skin, heart, vessels and organs (149). These changes also relate to the soft and velvet like skin seen in FXS.…”