Congenital defect of the partial atrioventricular canal with Klinefelter syndrome

Zhang, Yejing

doi:10.1136/bcr.10.2008.1121

Cited by 2 publications

(1 citation statement)

References 6 publications

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“…Among 3550 KS subjects, Swerdlow et al (7) reported that CCD was the specific cause of mortality in five patients (Standardized Mortality Ratio = 7.3). To the best of our knowledge, all cases of CCD in KS (68,70,71,72,73,74,75,76,77,78,79,80,81,82,83,84,85,86,87,88,89,90,91,92,93,94) are fully reported in the Supplemental Data 1, see section on supplementary data given at the end of this article.…”

Section: Structural and Functional Cardiovascular Abnormalities In Klmentioning

confidence: 99%

MANAGEMENT OF ENDOCRINE DISEASE: Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives

Salzano

Arcopinto

Marra

et al. 2016

European Journal of Endocrinology

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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.

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Section: Structural and Functional Cardiovascular Abnormalities In Klmentioning

confidence: 99%

MANAGEMENT OF ENDOCRINE DISEASE: Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives

Salzano

Arcopinto

Marra

et al. 2016

European Journal of Endocrinology

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Cardiovascular Complications in Patients with Klinefelter’s Syndrome

Sesti

Pofi

Pozza

et al. 2020

CPD

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: More than 70 years have passed since the first description of Klinefelter Syndrome (KS), the most frequent chromosome disorder causing male infertility and hypogonadism. KS is associated with increased cardiovascular (CV) mortality due to several comorbidities, including hypogonadism, as well as metabolic syndrome and type 2 diabetes, which are highly prevalent in these patients. Aside from metabolic disturbances, patients with KS suffer from both acquired and congenital CV abnormalities, cerebrovascular thromboembolic disease, subclinical atherosclerosis and endothelial dysfunction, which may all contribute to increased CV mortality. The mechanisms involved in this increased risk of CV morbidity and mortality are not entirely understood. More research is needed to better characterise the CV manifestations, elucidate the pathophysiological mechanisms and define the contribution of testosterone replacement in restoring CV health in KS patients. This review explores the complex association between KS, metabolic syndrome and CV risk in order to plan future studies and improve strategies to reduce mortality in this high-risk population.

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Congenital defect of the partial atrioventricular canal with Klinefelter syndrome

Abstract: The case of a 25-year-old man with a partial atrioventricular canal defect (PAVCD) with Klinefelter syndrome is reported here. The patient had Klinefelter syndrome associated with an atrial septal defect and the cleft of the anterior leaflet of the mitral valve.

Cited by 2 publications

References 6 publications

MANAGEMENT OF ENDOCRINE DISEASE: Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives

MANAGEMENT OF ENDOCRINE DISEASE: Klinefelter syndrome, cardiovascular system, and thromboembolic disease: review of literature and clinical perspectives

Cardiovascular Complications in Patients with Klinefelter’s Syndrome

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