Aortic dissection and moyamoya disease in Turner syndrome

Abstract

Aortic dilation and dissection are well-recognized cardiac abnormalities in women with Turner syndrome (TS), although the underlying pathophysiology is not fully understood. We report on a 46-year-old Hispanic woman who was previously diagnosed with moyamoya disease on magnetic resonance imaging after a presentation with stroke-like symptoms. Her features were consistent with TS and chromosome analysis revealed mosaicism in which 17% of the cells showed a pseudoisodicentric Y chromosome: 45,X (25)/46,X psu idic (Y)(11.2) (5). A preceding screening transthoracic echocardiogram had shown a bicuspid aortic valve (BAV) with an aortic diameter of 3.2 cm; at the time of moyamoya diagnosis, the aorta was 3.5 cm with mild aortic stenosis and mild aortic regurgitation. Four years later, the patient had had an acute aortic dissection, Stanford type A, which was repaired successfully. This case report is the third individual with TS associated with moyamoya disease and the first associated with dissection. The small number of cases does not allow detailed analysis other than noting patient age (two older than 40 years), karyotype (two others associated with isochrome Xq), and associated cardiac risk factors (one with BAV). Although this may be a chance occurrence, we hypothesize that moyamoya disease could be a manifestation of the vasculopathy in TS.

Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes

“…A few researchers found a potential correlation between isodicentric Y chromosomes and susceptibility to schizophrenia [58], but the evidence was not strong enough [59]. There are some other rare defects that occur in patients carrying isodicentric Y chromosomes, such as Moyamoya disease, aortic dissection, and congenital heart disease [18, 35, 60, 61]. These are either coincidences or consequences of the altered dosage of sex chromosome genes [60, 61].…”

“…There are some other rare defects that occur in patients carrying isodicentric Y chromosomes, such as Moyamoya disease, aortic dissection, and congenital heart disease [18, 35, 60, 61]. These are either coincidences or consequences of the altered dosage of sex chromosome genes [60, 61]. Individual differences in development also play a vital role in the clinical manifestations of patients [62–64].…”

Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery

“…A recent case report described a woman with TS and moyamoya and aortopathy, raising the question whether there is an association between cardiovascular and cerebrovascular disease (Jagannath, Rastogi, Spooner, Lin, & Agnihotri, ). As noted above, 50% of individuals with TS who were missing an A1 segment had a bicuspid aortic valve and 50% of individuals with TS who were missing the A1 segment had coarctation of the aorta (Table S2).…”

Mechanisms of Lethal Cerebrovascular Accidents in Turner Syndrome

“…Ischemic stroke may also occur due to embolism from valvular heart disease or to narrowing of vessel lumina from atherosclerosis or fibromuscular proliferation/moyamoya . Accelerated atherosclerosis in Turner syndrome may be related to impaired endothelial function and dyslipidemia .…”