Pilot Study of Blood Pressure in Girls With Turner Syndrome

Abstract

Cardiovascular disease is the major factor that reduces lifespan in Turner syndrome. High blood pressure (BP) is common in Turner syndrome and is the most easily treatable cardiovascular risk factor. We studied the prevalence of elevated screening systemic BP, awareness of the problem, and its clinical associations in a large group of girls attending the annual meeting of the Turner Syndrome Society of the United States. Among 168 girls aged 2 to 17 years, 42% had elevated screening BP (systolic and diastolic), yet only 8% reported a previous diagnosis of hypertension. History of aortic coarctation repair (17%) was positively associated with elevated systolic BP (52% versus 32%; P<0.05). Elevated systolic BP was positively associated with obesity (56% versus 31%; P<0.05). Because the prevalence of obesity in the studied population was similar to Center for Disease Control published data for obesity in all girls and the prevalence of increased BP is approximately twice that of the general population, the Turner syndrome phenotype/genotype probably includes an intrinsic risk for hypertension. Obesity and repaired aortic coarctation increase this risk further. There seems to be a BP awareness gap in girls with Turner syndrome. Because girls living with Turner syndrome are a sensitized population for hypertension, further study may provide clues to genetic factors leading to a better understanding of essential hypertension in the general population.

The Natural History of Metabolic Comorbidities in Turner Syndrome from Childhood to Early Adulthood: Comparison between 45,X Monosomy and Other Karyotypes

“…A more prominent clustering of metabolic comorbidities in 45,X monosomy were found. Our findings confirm previous observations that an abnormal metabolic profile appears at a relatively young age in girls with TS ( 8 , 11 , 12 , 24 – 27 ).…”

“…However, in a substantial number of the girls in our study already displaying cardiometabolic risk factors during childhood the BMI percentile was normal. As in other studies, our findings showed that hypertension, impaired glucose metabolism and dyslipidemia were not associated with body weight in young girls with TS ( 7 , 24 – 27 ). It would therefore appear that these early metabolic derangements may be attributed to risk factors inherent to TS: impaired glucose metabolism—to pancreatic beta cell dysfunction and decreased insulin secretory response to glucose ( 8 , 12 ); abnormal circadian BP rhythm and elevated BP—to autonomic dysfunction with altered vascular tone ( 7 , 32 ).…”

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

“…Because hypertension is common in TS, maintenance of normal blood pressure may lessen risk of aortic events (281, 282,283). Since AoD appears to occur at smaller absolute and ASI in TS, it is reasonable to begin prophylactic medical therapies earlier than what has been recommended for other patient groups.…”

“…Although individuals with TS are frequently found to have systemic hypertension, and even though hypertension is a known risk factor for progressive cardiac dysfunction and aortopathy, little has been documented about definitions and management of systemic hypertension, specifically for women with TS (281). Individuals with TS have been considered to have systemic hypertension in several studies with frequency as high as 20-40% in childhood (282) and in as many as 60% of adults (191,314,315,316). Systemic hypertension may appear at early ages and continue through adulthood.…”

Pheochromocytoma as a rare cause of hypertension in a 46 X, i(X)(q10) turner syndrome: a case report and literature review

“…Although the cause of hypertension in Turner syndrome is still not clear, structural etiology as well as heart autonomic innervations, increased plasma renin activity (PRA), and parasympathetic neuropathy, can cause hypertension in Turner syndrome patients. Thus, hypertension is the most important modifiable risk factor for aortic dissection and rupture that occurs in young women with Turner syndrome [ 3 , 8 – 10 ]. Therefore, adults with Turner syndrome should undergo regular cardiac examinations and imaging studies to detect aortic root dilatation, cardiac valve disease, or other cardiovascular anomalies, as well as routine blood pressure (BP) monitoring [ 4 ].…”