Cardiovascular phenotype in Turner syndrome--integrating cardiology, genetics, and endocrinology
Kristian H Mortensen1, Niels H Andersen, Claus H Gravholt
1Department of Endocrinology and Internal Medicine, Aarhus University Hospital, 8000 Aarhus, Denmark.
Insights
Cardiovascular disease is a major concern in Turner syndrome, contributing significantly to mortality. Understanding the interplay of genetics and endocrine disorders is crucial for managing cardiovascular risk in affected individuals.
Area of Science:
- Genetics and Endocrinology
- Cardiovascular Medicine
Background:
- Cardiovascular disease (CVD) is a primary cause of excess mortality in Turner syndrome.
- Turner syndrome is an independent risk marker for various CVD manifestations, including congenital heart disease, aortic dilation, hypertension, and stroke.
- Standard CVD risk stratification methods are insufficient for identifying high-risk individuals with Turner syndrome.
Purpose of the Study:
- To review current knowledge on cardiovascular morbidity and mortality in Turner syndrome.
- To explore the pathogenesis of Turner syndrome, focusing on X-chromosome genetics.
- To integrate endocrine features and genetic insights for a comprehensive understanding of the cardiovascular phenotype and risk management.
Main Methods:
- Literature review of current state-of-the-art knowledge on Turner syndrome.
- Analysis of the interplay between cardiovascular disease, endocrine disorders, and X-chromosome genetics.
- Synthesis of information on prevalence, risk factors, and management strategies.
Main Results:
- Cardiovascular disease accounts for half of the excess mortality in Turner syndrome.
- Endocrine disorders exacerbate cardiovascular prognosis in Turner syndrome.
- Advances in understanding X-chromosome genetics, particularly the SHOX gene, offer insights into the condition.
Conclusions:
- A comprehensive approach integrating endocrinology and genetics is essential for identifying and modifying cardiovascular risk in Turner syndrome.
- Further research into X-chromosome genetics and its impact on cardiovascular health is warranted.
- Improved understanding of pathogenesis can lead to better patient outcomes.
Abstract:
Cardiovascular disease is emerging as a cardinal trait of Turner syndrome, being responsible for half of the 3-fold excess mortality. Turner syndrome has been proposed as an independent risk marker for cardiovascular disease that manifests as congenital heart disease, aortic dilation and dissection, valvular heart disease, hypertension, thromboembolism, myocardial infarction, and stroke. Risk stratification is unfortunately not straightforward because risk markers derived from the general population inadequately identify the subset of females with Turner syndrome who will suffer events. A high prevalence of endocrine disorders adds to the complexity, exacerbating cardiovascular prognosis. Mounting knowledge about the prevalence and interplay of cardiovascular and endocrine disease in Turner syndrome is paralleled by improved understanding of the genetics of the X-chromosome in both normal health and disease. At present in Turner syndrome, this is most advanced for the SHOX gene, which partly explains the growth deficit. This review provides an up-to-date condensation of current state-of-the-art knowledge in Turner syndrome, the main focus being cardiovascular morbidity and mortality. The aim is to provide insight into pathogenesis of Turner syndrome with perspectives to advances in the understanding of genetics of the X-chromosome. The review also incorporates important endocrine features, in order to comprehensively explain the cardiovascular phenotype and to highlight how raised attention to endocrinology and genetics is important in the identification and modification of cardiovascular risk.
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