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● H e l p ● L e a r n t o e d i t ● C o m m u n i t y p o r t a l ● R e c e n t c h a n g e s ● U p l o a d f i l e
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P a g e s f o r l o g g e d o u t e d i t o r s l e a r n m o r e ● C o n t r i b u t i o n s ● T a l k
( T o p )
1 E t i o l o g y
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F r o m W i k i p e d i a , t h e f r e e e n c y c l o p e d i a
Familial thoracic aortic aneurysm and aortic dissection is a very rare vascular genetic disorder, it's characterized by recurrent thoracic aortic aneurysms and aortic dissections within a family, these mentioned complications affect one or more aortic segments without any other disease being associated with them. People with this disorder have a higher chance of having a potentially fatal aortic rupture .[1] [2] [3] [4]
Some families affected by this condition have shown mild versions of some symptoms that are associated with Marfan syndrome and Loeys-Dietz syndrome , these signs include tall stature, joint hypermobility , cutaneous stretch marks , and either pectus excavatum or pectus carinatum . Less common symptoms in other affected families include scoliosis , congenital heart defects , inguinal hernia, and/or livedo reticularis .[5]
Etiology [ edit ]
This disorder is caused by mutations in one or more of the following genes:[6] [7] [8]
This disorder is inherited in an autosomal dominant manner, meaning only one copy of a mutated gene is needed in order for the disease to develop.[9]
References [ edit ]
^ "Thoracic Aortic Aneurysm & Aortic Dissection" .
^ Guo, Dong-Chuan; Regalado, Ellen S.; Minn, Charles; Tran-Fadulu, Van; Coney, Joshua; Cao, Jiumei; Wang, Min; Yu, Robert K.; Estrera, Anthony L.; Safi, Hazim J.; Shete, Sanjay S.; Milewicz, Dianna M. (2011). "Familial Thoracic Aortic Aneurysms and Dissections" . Circulation: Cardiovascular Genetics . 4 1 ): 36–42. doi :10.1161/circgenetics.110.958066 . PMC 3739448 PMID 21163914 .
^ "Familial thoracic aortic aneurysm and dissection: MedlinePlus Genetics" .
^ "Familial thoracic aortic aneurysm and aortic dissection - About the Disease - Genetic and Rare Diseases Information Center" .
^ Keramati, Ali R.; Sadeghpour, Anita; Farahani, Maryam M.; Chandok, Gurangad; Mani, Arya (2010). "The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus" . BMC Medical Genetics . 11 doi :10.1186/1471-2350-11-143 PMC 2958900 PMID 20937124 .
^ "Familial Thoracic Aortic Aneurysm and Dissection Syndrome (Familial TAAD) - Stanford Children's Health" .
^ "Familial Thoracic Aortic Aneurysm Dissection - UCLA Cardiovascular Genetics Clinic, Los Angeles, CA" .
R e t r i e v e d f r o m " https://en.wikipedia.org/w/index.php?title=Familial_thoracic_aortic_aneurysm_and_aortic_dissection&oldid=1188054297 " C a t e g o r i e s : ● R a r e g e n e t i c s y n d r o m e s ● S y n d r o m e s a f f e c t i n g t h e h e a r t H i d d e n c a t e g o r i e s : ● A r t i c l e s w i t h s h o r t d e s c r i p t i o n ● S h o r t d e s c r i p t i o n m a t c h e s W i k i d a t a
● T h i s p a g e w a s l a s t e d i t e d o n 3 D e c e m b e r 2 0 2 3 , a t 0 2 : 1 3 ( U T C ) . ● T e x t i s a v a i l a b l e u n d e r t h e C r e a t i v e C o m m o n s A t t r i b u t i o n - S h a r e A l i k e L i c e n s e 4 . 0 ;
a d d i t i o n a l t e r m s m a y a p p l y . B y u s i n g t h i s s i t e , y o u a g r e e t o t h e T e r m s o f U s e a n d P r i v a c y P o l i c y . W i k i p e d i a ® i s a r e g i s t e r e d t r a d e m a r k o f t h e W i k i m e d i a F o u n d a t i o n , I n c . , a n o n - p r o f i t o r g a n i z a t i o n . ● P r i v a c y p o l i c y ● A b o u t W i k i p e d i a ● D i s c l a i m e r s ● C o n t a c t W i k i p e d i a ● C o d e o f C o n d u c t ● D e v e l o p e r s ● S t a t i s t i c s ● C o o k i e s t a t e m e n t ● M o b i l e v i e w
