0000000001097954

AUTHOR

Annie Nivelon-chevallier

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Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.

2004

International audience; Thoracic aortic aneurysm and aortic dissection (TAA and AD) are an important cause of sudden death. Familial cases could account for 20% of all cases. A genetic heterogeneity with two identified genes (FBN1 and COL3A1) and three loci (3p24-25 or MFS2/TAAD2, 5q13-q14 and 11q23.2-24) has been shown previously. Study of a single family composed of 179 members with an abnormally high occurrence of TAA/AD disease. A total of 40 subjects from three generations were investigated. In addition to five cases of stroke and three cases of sudden death, there were four cases of AD and four cases of TAA in adults. In all, 11 cases of patent ductus arteriosus (PDA) were observed, t…

MalePathologymedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesGenetic Linkage030204 cardiovascular system & hematologyThoracic aortic aneurysmSudden deathFamilial thoracic aortic aneurysm03 medical and health sciencesAortic aneurysmDeath Sudden0302 clinical medicineDuctus arteriosusGenetic modelGeneticsmedicine[INFO.INFO-IM]Computer Science [cs]/Medical ImagingHumansDuctus Arteriosus PatentGenetics (clinical)030304 developmental biologyAortic dissection0303 health sciences[ INFO.INFO-IM ] Computer Science [cs]/Medical ImagingAortic Aneurysm ThoracicGenetic heterogeneitybusiness.industryAnatomymedicine.disease3. Good healthPedigreeStrokeAortic Dissectionmedicine.anatomical_structureFemaleFrancebusinessMicrosatellite RepeatsEuropean journal of human genetics : EJHG
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