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Management of cardiovascular complications in Klinefelter syndrome patients
Giacomo Accardo1, Vanda Amoresano Paglionico1, Rosa Di Fraia1
1a Department of Medical, Surgical, Neurologic , Metabolic and Aging Sciences, University of Campania "L. Vanvitelli" Naples , Naples , Italy.
Insights
Klinefelter syndrome (KS) is linked to higher mortality due to cardiovascular issues. Early detection and management of these cardiovascular risks in KS patients are crucial for improving outcomes.
Area of Science:
- Cardiovascular Medicine
- Endocrinology
- Genetics
Background:
- Klinefelter syndrome (47, XXY) is associated with increased mortality compared to the general population.
- Cardiovascular, hemostatic, and metabolic diseases are implicated in KS mortality.
- Congenital cardiac anomalies in KS can exacerbate mortality risks.
Purpose of the Study:
- To systematically review the relationship between Klinefelter syndrome and the cardiovascular system.
- To explore the management of cardiovascular complications in KS patients.
- To highlight the increased cardiovascular risk profile in individuals with KS.
Main Methods:
- Systematic literature review.
- Analysis of cardiovascular risk factors in KS.
- Evaluation of endothelial and cardiac function in KS subjects.
Main Results:
- KS patients exhibit an elevated cardiovascular risk profile, including dyslipidemia, diabetes mellitus, and abnormal cardiovascular biomarkers.
- Subclinical abnormalities in endothelial and left ventricular function are observed in KS.
- Increased risk of thromboembolic events, such as deep venous thrombosis and pulmonary embolism, is noted in KS.
Conclusions:
- Periodic cardiovascular follow-up in specialized centers is recommended for KS patients.
- Multidisciplinary care teams, including endocrinologists and cardiologists, are essential for managing KS cardiovascular complications.
- Addressing the increased cardiovascular risk in KS is vital for reducing mortality.
Introduction:
Klinefelter syndrome (KS), also known as 47, XXY, shows increased mortality when compared with mortality rates among the general population. Cardiovascular, hemostatic, metabolic diseases are implicated. Moreover, cardiac congenital anomalies in KS can contribute to the increase in mortality.
Areas Covered:
In this study, we have systematically reviewed the relationships between KS and the cardiovascular system and the management of cardiovascular complication. In summary, patients with KS display increased cardiovascular risk profile, characterized by increased prevalence of metabolic alterations including dyslipidemia, diabetes mellitus (DM), and abnormalities in biomarkers of cardiovascular disease. KS subjects are characterized by subclinical abnormalities in endothelial function and in left ventricular (LV) systolic and diastolic function, which - when associated with chronotropic incompetence - may negatively influence cardiopulmonary performance. Moreover, KS patients appear to be at a higher risk for cardiovascular disease, due to thromboembolic events with high prevalence of recurrent venous ulcers, venous insufficiency, recurrent venous and arterial thromboembolism leading to deep venous thrombosis or pulmonary embolism.
Expert Opinion:
Considering the unequivocal finding of increased mortality of KS patients, we suggest a periodic cardiovascular follow up in specialized centers with multidisciplinary care teams that comprise endocrinologists and cardiologists dedicated to KS syndrome.
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Overview of the Cardiovascular System
Heart
The heart is the central pump of the cardiovascular system that circulates blood throughout the body. It comprises two atria receiving the blood and two ventricles pumping blood out of the heart. Their rhythmic contractions, called heartbeats, ensure that blood flow remains continuous.
Blood Vessels
Blood...

