Familial thoracic aortic aneurysm and aortic dissection

Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.



Input patient's signs and symptoms


Narrow down the case reports



Total: 4 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(17.5%)		 20689142
 Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation.
Yoo EH, Choi SH, Jang SY, Suh YL, Lee I, Song JK, Choe YH, Kim JW, Ki CS, Kim DK.
Ann Clin Lab Sci. 2010;40(3):278-84.
Inguinal hernia
ACTA2
c|SUB|G|76|T p|SUB|D|26|Y
Actins Adult Amino Acid Sequence Amino Acid Substitution Aneurysm, Dissecting Aortic Aneurysm, Thoracic DNA Primers Females Genetic Predisposition to Disease Heterozygote Homo sapiens Korea Magnetic Resonance Angiography Male Middle Aged Missense Mutation Molecular Sequence Data Sequence Homology, Amino Acid Young Adult
2
(4.0%)		 22968129
 Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.
Harakalova M, van der Smagt J, de Kovel CG, Van't Slot R, Poot M, Nijman IJ, Medic J, Joziasse I, Deckers J, Roos-Hesselink JW, Wessels MW, Baars HF, Weiss MM, Pals G, Golmard L, Jeunemaitre X, Lindhout D, Cuppen E, Baas AF.
Eur J Hum Genet. 2013;21(5):487-93.
Patent ductus arteriosus
MYH11
rs150759461 rs1555560489 rs1555562770 rs730880147
Adult Aortic Aneurysm, Thoracic Base Sequence Chromosome Mapping Chromosome Segregation Females Genotype Heterozygote Homo sapiens Male Middle Aged Missense Mutation Molecular Sequence Data Myosin Heavy Chains Netherlands Sequence Analysis, DNA Sequence Deletion Single Nucleotide Polymorphism
2
(4.0%)		 21937134
(3253210)
 Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFbeta signaling in FTAAD.
Renard M, Callewaert B, Baetens M, Campens L, MacDermot K, Fryns JP, Bonduelle M, Dietz HC, Gaspar IM, Cavaco D, Stattin EL, Schrander-Stumpel C, Coucke P, Loeys B, De Paepe A, De Backer J.
Int J Cardiol. 2013;165(2):314-21.
Thoracic aortic aneurysm
ACTA2 COL3A1 FBN1 MYH11 MYLK SMAD3 TGFB1 TGFBR1 TGFBR2
rs112901682 rs397514037 rs794728034 rs886038978
Actins Adult Aged, 80 and over Aneurysm, Dissecting Aortic Aneurysm, Thoracic Cohort Studies Females Homo sapiens Male Middle Aged Mutation Myosin Heavy Chains Signal Transduction Transforming Growth Factor beta Up-Regulation (Physiology)
2
(4.0%)		 20937124
(2958900)
 The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus.
Keramati AR, Sadeghpour A, Farahani MM, Chandok G, Mani A.
BMC Med Genet. 2010;11:143.
Thoracic aortic aneurysm
FBN1
rs1072994 rs1876206 rs668842
Aneurysm, Dissecting Aortic Aneurysm, Thoracic Chromosomes, Human, Pair 15 Echocardiography Fibrillins Genetic Loci Genome-Wide Association Study Genotype Haplotypes Homo sapiens Male Marfan Syndrome Microfilament Proteins Middle Aged Odds Ratio Single Nucleotide Polymorphism
        

Phenotype(s) retrieved from Orphanet

    Total: 44

HPO ID Term Frequency
HP:0000965 Cutis marmorata Very frequent (99-80%)
HP:0003549 Abnormality of connective tissue Very frequent (99-80%)
HP:0200146 Mucoid extracellular matrix accumulation Very frequent (99-80%)
HP:0000525 Abnormality iris morphology Frequent (79-30%)
HP:0000822 Hypertension Frequent (79-30%)
HP:0001640 Cardiomegaly Frequent (79-30%)
HP:0001659 Aortic regurgitation Frequent (79-30%)
HP:0001677 Coronary artery atherosclerosis Frequent (79-30%)
HP:0002875 Exertional dyspnea Frequent (79-30%)
HP:0004933 Ascending aortic dissection Frequent (79-30%)
HP:0005162 Left ventricular dysfunction Frequent (79-30%)
HP:0012499 Descending aortic dissection Frequent (79-30%)
HP:0012763 Paroxysmal dyspnea Frequent (79-30%)
HP:0100749 Chest pain Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000098 Tall stature Occasional (29-5%)
HP:0000278 Retrognathia Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000766 Abnormality of the sternum Occasional (29-5%)
HP:0000978 Bruising susceptibility Occasional (29-5%)
HP:0001166 Arachnodactyly Occasional (29-5%)
HP:0001297 Stroke Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0001647 Bicuspid aortic valve Occasional (29-5%)
HP:0001763 Pes planus Occasional (29-5%)
HP:0002105 Hemoptysis Occasional (29-5%)
HP:0002107 Pneumothorax Occasional (29-5%)
HP:0002138 Subarachnoid hemorrhage Occasional (29-5%)
HP:0002140 Ischemic stroke Occasional (29-5%)
HP:0002326 Transient ischemic attack Occasional (29-5%)
HP:0002631 obsolete Dilatation of ascending aorta Occasional (29-5%)
HP:0002647 Aortic dissection Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002686 Prenatal maternal abnormality Occasional (29-5%)
HP:0002705 High, narrow palate Occasional (29-5%)
HP:0004944 Dilatation of the cerebral artery Occasional (29-5%)
HP:0004953 obsolete Dilatation of abdominal aorta Occasional (29-5%)
HP:0004954 obsolete Dilatation of the descending aorta Occasional (29-5%)
HP:0005296 obsolete Occlusive vascular disease Occasional (29-5%)
HP:0005309 obsolete Peripheral vascular insufficiency Occasional (29-5%)
HP:0005315 obsolete Peripheral artery occlusive disease Occasional (29-5%)
HP:0011106 Hypovolemia Occasional (29-5%)
HP:0012163 Carotid artery dilatation Occasional (29-5%)
HP:0100775 Dural ectasia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0000023 Inguinal hernia 1
HP:0500007 Iris flocculi 1


Causative gene(s) retrieved from Orphanet

    Total: 15

Gene Symbol Gene Name Entrez Gene ID
FOXE3 forkhead box E3 2301
LOX lysyl oxidase 4015
MAT2A methionine adenosyltransferase 2A 4144
ELN elastin 2006
TGFB3 transforming growth factor beta 3 7043
TGFBR1 transforming growth factor beta receptor 1 7046
TGFBR2 transforming growth factor beta receptor 2 7048
FBN1 fibrillin 1 2200
MYH11 myosin heavy chain 11 4629
ACTA2 actin alpha 2, smooth muscle 59
MYLK myosin light chain kinase 4638
SMAD3 SMAD family member 3 4088
PRKG1 protein kinase cGMP-dependent 1 5592
MFAP5 microfibril associated protein 5 8076
TGFB2 transforming growth factor beta 2 7042