Heart disease in Turner syndrome
1Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. bondyc@mail.nih.gov
Minerva Endocrinologica
|December 20, 2007
Summary
Turner syndrome (TS) is a genetic condition affecting female development. This review highlights cardiovascular risks in TS patients, emphasizing aortic dissection and the need for improved adult cardiac care.
Area of Science:
- Genetics
- Endocrinology
- Cardiology
Background:
- Turner syndrome (TS) is a common genetic disorder in females.
- Key features include short stature and premature ovarian failure.
- Congenital cardiovascular disease affects 50% of TS patients, a major cause of mortality.
Purpose of the Study:
- To review the spectrum of cardiovascular defects in TS.
- To identify patients at risk for aortic dissection/rupture.
- To discuss updated cardiac screening guidelines and genetic pathways.
Main Methods:
- Literature review of cardiovascular defects in TS.
- Analysis of risk factors for aortic dissection/rupture.
- Review of current consensus guidelines for cardiac care.
- Discussion of genetic pathways in TS cardiovascular disease.
Main Results:
- Cardiovascular disease is prevalent in TS, with aortic dissection/rupture being a critical concern.
- Current cardiac care for adult TS patients is often deficient.
- Genetic factors play a role in TS-related cardiovascular issues, including premature coronary artery disease.
Conclusions:
- Improved cardiac screening and care are essential for TS patients, particularly into adulthood.
- Early identification and management of cardiovascular risks can reduce premature mortality.
- Addressing the deficiency in adult TS cardiac care is crucial.
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