Arterial hypertension in Turner syndrome

Abstract

Turner syndrome is a rare chromosomal disorder with complete or partial absence of one X chromosome that only occurs in women. Clinical presentation is variable, but congenital and acquired cardiovascular diseases are frequently associated diseases that add significantly to the increased morbidity and mortality in Turner syndrome patients. Arterial hypertension is reported in 13-58% of adult Turner syndrome patients and confers an increased risk for stroke and aortic dissection. Hypertension can be present from childhood on and is reported in one-quarter of the paediatric Turner syndrome patients. This article reviews the prevalence and cause of arterial hypertension in Turner syndrome and describes the relationship between blood pressure, aortic dilation and increased cardiovascular risk. We compare current treatment strategies and also propose an integrated practical approach for the diagnosis and treatment of hypertension in Turner syndrome applicable in daily practice.

Hypertensive Cerebral Hemorrhage in a Patient with Turner Syndrome Caused by Deletion in the Short Arm of the X Chromosome

“…Its etiology is considered multifactorial, while possible mechanisms include high levels of plasma renin activity, obesity, aortic coarctation, and renal vascular abnormality [8,13,14]. In this report, the patient had untreated hypertension and associated cerebral hemorrhage, but her primary physician had not recognized hypertension during her routine visits.…”

“…Hypertension and its associated complications have previously been reported in Turner syndrome [5,6,7,8]. Its etiology is considered multifactorial, while possible mechanisms include high levels of plasma renin activity, obesity, aortic coarctation, and renal vascular abnormality [8,13,14].…”

“…Several complications such as congenital heart disease, hypothyroidism, strabismus, sensorineural hearing loss, and renal malformations have been reported [1]. Hypertension is also a common complication [1,4], and associated vascular complications such as aortic dissection or cerebral hemorrhage have been reported in previous studies [5,6,7,8]. Cerebral hemorrhage in Turner syndrome is a rare complication with only a few reports in the literature.…”

New insights into clinical features, karyotypes, and age at diagnosis in women with Turner syndrome

“…Hormone therapy in TS patients comprises not only a treatment for short stature (growth hormone) and compensation for sex hormone deficit (sex hormones), but also a counteraction to the effects of this deficit, including the reduction in the risk of cardiovascular disease [12,21]. Long-term pleiotropic effects of the growth hormone should be kept in mind as well as the fact that they are not always predictable [22].…”

“…Life expectancy of women with TS is shorter than that of the general population, mainly due to cardiovascular pathologies [12]. Despite progress in the diagnosis as well as treatment of organ abnormalities and clinical sequelae thereof, premature mortality remains a major problem.…”