Figure - available from: The International Journal of Cardiovascular Imaging
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Source publication
Turner syndrome (TS) is associated with aortic coarctation, dissection and dilation/aneurysm. Predictors of dissection are not well delineated, making decisions regarding prophylactic root replacement challenging. In other disorders, arterial tortuosity is an imaging biomarker associated with increased risk for aortic dissection and adverse cardiov...
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Background
Turner syndrome is a rare systemic disease and a significant proportion of these patients experience aortic coarctation. Selection of optimal therapy for aortic coarctation in patients with Turner syndrome is difficult due to the pathologic change of the systemic vessel.Case presentationWe report one successful case of covered stent impl...
Citations
... A study of 37 patients with TS demonstrated increased aortic stiffness in the ascending aorta, independent of the presence of BAV [16]. Aortic tortuosity has also been identified as an association with increased aortic dilation [68]. ...
Purpose of Review
The aim of this article is to review the current echocardiographic considerations in the diagnosis and monitoring of patients with inherited aortopathies.
Recent Findings
Aortic dilation is a key feature in heritable aortopathies, and dissection is a leading cause of morbidity and mortality. New genetic and histopathologic findings are helpful in better understanding these conditions. Non-invasive imaging modalities, including echocardiogram, computerized tomography, and magnetic resonance imaging, are essential in monitoring these patients, as well as providing new prognostic factors of arterial stiffness that may help with risk stratification in the future.
Summary
Diagnosis of heritable aortopathies should be considered with identification of aortic root dilation, particularly in children and young adults, or when there is a family history of aortic disease. Recent adult consensus guidelines highlight the importance of underlying genotype and phenotypic features when considering prophylactic surgical intervention. There are currently no consensus pediatric guidelines.
