title: Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives.
abstract: Klinefelter syndrome (KS) is the most frequently occurring sex chromosomal aberration in males, with an incidence of about 1 in 500-700 newborns. Data acquired from large registry-based studies revealed an increase in mortality rates among KS patients when compared with mortality rates among the general population. Among all causes of death, metabolic, cardiovascular, and hemostatic complication seem to play a pivotal role. KS is associated, as are other chromosomal pathologies and genetic diseases, with cardiac congenital anomalies that contribute to the increase in mortality. The aim of the current study was to systematically review the relationships between KS and the cardiovascular system and hemostatic balance. In summary, patients with KS display an increased cardiovascular risk profile, characterized by increased prevalence of metabolic abnormalities including Diabetes mellitus (DM), dyslipidemia, and alterations in biomarkers of cardiovascular disease. KS does not, however, appear to be associated with arterial hypertension. Moreover, KS patients are characterized by subclinical abnormalities in left ventricular (LV) systolic and diastolic function and endothelial function, which, when associated with chronotropic incompetence may led to reduced cardiopulmonary performance. KS patients appear to be at a higher risk for cardiovascular disease, attributing to an increased risk of thromboembolic events with a high prevalence of recurrent venous ulcers, venous insufficiency, recurrent venous and arterial thromboembolism with higher risk of deep venous thrombosis or pulmonary embolism. It appears that cardiovascular involvement in KS is mainly due to chromosomal abnormalities rather than solely on low serum testosterone levels. On the basis of evidence acquisition and authors' own experience, a flowchart addressing the management of cardiovascular function and prognosis of KS patients has been developed for clinical use.
authors: Department of Translational Medical Sciences, University "Federico II"Naples, Italy.
authors: Andrea
authors: A
authors: Salzano
authors: Department of Cardiac Surgery, IRCCS Policlinico San DonatoMilan, Italy.
authors: Michele
authors: M
authors: Arcopinto
authors: IRCSS SDNVia E. Gianturco 113, Naples, Italy.
authors: Alberto M
authors: AM
authors: Marra
authors: Department of Translational Medical Sciences, University "Federico II"Naples, Italy.
authors: Emanuele
authors: E
authors: Bobbio
authors: Department of Cardiothoracic and Respiratory Science, Endocrinology Unit, Second University of NaplesItaly.
authors: Daniela
authors: D
authors: Esposito
authors: Department of Cardiothoracic and Respiratory Science, Endocrinology Unit, Second University of NaplesItaly.
authors: Giacomo
authors: G
authors: Accardo
authors: Department of Translational Medical Sciences, University "Federico II"Naples, Italy.
authors: Francesco
authors: F
authors: Giallauria
authors: Department of Cardiology and Cardiac Surgery, University Hospital "Scuola Medica Salernitana"Salerno, Italy.
authors: Eduardo
authors: E
authors: Bossone
authors: Department of Translational Medical Sciences, University "Federico II"Naples, Italy.
authors: Carlo
authors: C
authors: Vigorito
authors: Department of Experimental Medicine, Sapienza University of RomeRome, Italy.
authors: Andrea
authors: A
authors: Lenzi
authors: Department of Cardiothoracic and Respiratory Science, Endocrinology Unit, Second University of NaplesItaly.
authors: Daniela
authors: D
authors: Pasquali
authors: Department of Experimental Medicine, Sapienza University of RomeRome, Italy.
authors: Andrea M
authors: AM
authors: Isidori
authors: Department of Translational Medical Sciences, University "Federico II"Naples, Italy antonio.cittadini@unina.it.
authors: Antonio
authors: A
authors: Cittadini
mesh_terms: D002319:Cardiovascular System / Q000503:physiopathology*; D004730:Endothelium, Vascular / Q000503:physiopathology; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications / Q000503:physiopathology*; D008297:Male; D012307:Risk Factors; D013923:Thromboembolism / Q000150:complications / Q000503:physiopathology*; D018487:Ventricular Dysfunction, Left / Q000150:complications / Q000503:physiopathology*