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Update on bicuspid aortic valve aortopathy
Current Opinion in Cardiology, 2017The appropriate treatment of bicuspid aortic valve (BAV)-associated aortopathy is still controversial. We aimed to summarize recent evidence from the literature that focused on the prediction of aortopathy progression and adverse aortic events.Following the detailed description of valvulo-aortic phenotypes in BAV disease in the previous imaging studies,
Girdauskas, Evaldas, Petersen, Johannes
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Genetic testing for aortopathies
Current Opinion in Cardiology, 2019Although the majority of thoracic aortic aneurysms and dissections (TAD) in the overall population are mainly related to arterial hypertension and atherosclerosis, Heritable Thoracic Aortic Disease (HTAD) are increasingly recognized, especially in younger individuals.
De Backer, Julie +2 more
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Aortopathy in Marfan syndrome: an update
Cardiovascular Pathology, 2014Marfan syndrome (MFS) is an inherited autosomal dominant multisystem disease caused by mutations in the FBN1 gene encoding fibrillin-1, an extracellular matrix glycoprotein widely distributed in mesenchymal-derived tissues that provide a scaffold for elastin deposition.
Romaniello, F +7 more
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Genetics of syndromic and nonsyndromic aortopathies
Current Opinion in Pediatrics, 2019Purpose of reviewTo review the literature and provide a summary of management of syndromic and nonsyndromic aortopathies.Recent findingsThe number of newly identified genetic causes for aortopathies have continued to increase over the past 10 years. The number of reported individuals with most hereditary aneurysm genes is small but increasing with more
Christina M, Rigelsky, Rocio T, Moran
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Aortopathies: Clinical Manifestation
2017Many native, surgically or interventionally treated patients with congenital heart anomalies and genetic aortic syndromes (GAS) (e.g., Marfan, Loeys-Dietz, Ehlers-Danlos, Turner syndrome) are at risk for the development of aortic aneurysm, dissection, or rupture, resulting from inborn anomalies of the structure and metabolism of the aortic wall.
Harald Kaemmerer, Yskert von Kodolitsch
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Non-coding RNAs in aneurysmal aortopathy
Vascular Pharmacology, 2019Aortic aneurysms represent a major public health burden, and currently have no medical treatment options. The pathophysiology behind these aneurysms is complex and variable, depending on location and underlying cause, and generally involves progressive dysfunction of all elements of the aortic wall.
Joshua M, Spin +3 more
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Echogenomics: Echocardiography in Heritable Aortopathies
Current Cardiology ReportsThe aim of this article is to review the current echocardiographic considerations in the diagnosis and monitoring of patients with inherited aortopathies.Aortic dilation is a key feature in heritable aortopathies, and dissection is a leading cause of morbidity and mortality.
Lyndsey, Hunter-Adamson, Seda, Tierney
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Genetics of bicuspid aortic valve aortopathy
Current Opinion in Cardiology, 2016The incidence of aortic dilation and acute complications (rupture and dissection) is higher in patients with a bicuspid aortic valve (BAV), the most frequent congenital heart defect.The present review focuses on the current knowledge in the genetics of BAV, emphasizing the clinical implications for early detection and personalized care.BAV is a highly ...
Andreassi, Maria G +1 more
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2017
After Maude Abbott mentioned in 1928 in her atlas of congenital heart disease that the presence of a bicuspid aortic valve appears to indicate a tendency for spontaneous rupture, the following story started: recognized were a high incidence of aortic dissection and medial intrinsic abnormalities of the aorta in the presence of a bicuspid aortic valve ...
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After Maude Abbott mentioned in 1928 in her atlas of congenital heart disease that the presence of a bicuspid aortic valve appears to indicate a tendency for spontaneous rupture, the following story started: recognized were a high incidence of aortic dissection and medial intrinsic abnormalities of the aorta in the presence of a bicuspid aortic valve ...
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Aetiology and management of hereditary aortopathy
Nature Reviews Cardiology, 2017Aortic aneurysms are a major health problem because they account for 1-2% of all deaths in the Western population. Although abdominal aortic aneurysms (AAAs) are more prevalent than thoracic aortic aneurysms (TAAs), TAAs have been more exhaustively studied over the past 2 decades because they have a higher heritability and affect younger individuals ...
Aline Verstraeten +2 more
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