Supravalvular Aortic Stenosis
| العنوان: | Supravalvular Aortic Stenosis |
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| المؤلفون: | Nicola Brunetti-Pierri, Lucia Micale, Pasquale Piccolo, Giuseppe Merla, Maria Nicla Loviglio |
| المصدر: | Circulation: Cardiovascular Genetics. 5:692-696 |
| بيانات النشر: | Ovid Technologies (Wolters Kluwer Health), 2012. |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | medicine.medical_specialty, Pathology, Gene mutation, Diagnosis, Differential, Internal medicine, medicine.artery, Genetics, medicine, Humans, Aorta, Genetics (clinical), Ultrasonography, biology, Vascular disease, business.industry, Syndrome, medicine.disease, Elastin, Aortic Stenosis, Supravalvular, Coronary arteries, medicine.anatomical_structure, Chromosomal region, Cardiology, biology.protein, Cardiology and Cardiovascular Medicine, Haploinsufficiency, business, Supravalvular aortic stenosis |
| الوصف: | Supravalvular aortic stenosis is a systemic elastin (ELN) arteriopathy that disproportionately affects the supravalvular aorta. ELN arteriopathy may be present in a nonsyndromic condition or in syndromic conditions such as Williams–Beuren syndrome. The anatomic findings include congenital narrowing of the lumen of the aorta and other arteries, such as branches of pulmonary or coronary arteries. Given the systemic nature of the disease, accurate evaluation is recommended to establish the degree and extent of vascular involvement and to plan appropriate interventions, which are indicated whenever hemodynamically significant stenoses occur. ELN arteriopathy is genetically heterogeneous and occurs as a consequence of haploinsufficiency of the ELN gene on chromosome 7q11.23, owing to either microdeletion of the entire chromosomal region or ELN point mutations. Interestingly, there is a prevalence of premature termination mutations resulting in null alleles among ELN point mutations. The identification of the genetic defect in patients with supravalvular aortic stenosis is essential for a definitive diagnosis, prognosis, and genetic counseling. |
| تدمد: | 1942-3268 1942-325X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1225ca0280aed1d09a021133b07ea04cTest https://doi.org/10.1161/circgenetics.112.962860Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....1225ca0280aed1d09a021133b07ea04c |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19423268 1942325X |
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