Familial Thoracic 1 Aortic Aneurysm

A hereditary predisposition to aortic aneurysm; a region associated with Aortic Aneurysm, Familial Thoracic 1 (AAT1) has been identified on chromosome 11q. OMIM: 607086

Also Known As:

Aortic Aneurysm, Familial Thoracic 1; Annuloaortic Ectasia; Aortic Aneurysm, Familial Thoracic; Aortic Dissection, Familial; Familial Aortic Aneurysm; Familial Aortic Dissection; Familial Taad; Familial Thoracic Aortic Aneurysm; Familial Thoracic Aortic Aneurysm and Dissection

Networked: 87 relevant articles (1 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Cardiovascular Diseases: 91362
- Vascular Diseases: 15138
  - Aneurysm: 24506
    - Aortic Aneurysm: 3427
      - Thoracic Aortic Aneurysm: 1399
        Familial Thoracic 1 Aortic Aneurysm: 87
  - Aortic Diseases: 879
    - Aortic Aneurysm: 3427
      - Thoracic Aortic Aneurysm: 1399
        Familial Thoracic 1 Aortic Aneurysm: 87

Related Diseases

1.	Dextrocardia
2.	Marfan Syndrome (Marfan's Syndrome)
3.	Loeys-Dietz Syndrome
4.	Mitral Valve Prolapse
5.	Aortic Valve Insufficiency (Aortic Regurgitation)

Experts

1.	Milewicz, Dianna M: 11 articles (02/2014 - 07/2005)
2.	Regalado, Ellen S: 5 articles (02/2014 - 05/2010)
3.	Guo, Dong-Chuan: 5 articles (09/2011 - 01/2008)
4.	Estrera, Anthony L: 5 articles (06/2011 - 07/2005)
5.	Safi, Hazim J: 5 articles (06/2011 - 07/2005)
6.	Pannu, Hariyadarshi: 5 articles (01/2008 - 07/2005)
7.	Tran-Fadulu, Van: 4 articles (01/2008 - 11/2005)
8.	Coselli, Joseph S: 3 articles (01/2022 - 12/2010)
9.	LeMaire, Scott A: 3 articles (04/2013 - 12/2010)
10.	Leal, Suzanne M: 3 articles (09/2011 - 12/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Familial Thoracic 1 Aortic Aneurysm:

1.	1,3,4,6- tetra- O- acetyl- 2- azido- 2- deoxyglucopyranose (TAAD)IBA 11/01/2006 - "Familial TAAD demonstrates genetic heterogeneity, and linkage studies have identified TAAD loci at 5q13-14 (TAAD1), 11q23 (FAA1), 3p24-25 (TAAD2), and 16p12.2-13.13. " 11/15/2005 - "Familial TAAD demonstrates genetic heterogeneity, and linkage studies have identified three TAAD loci at 5q13-14 (TAAD1), 11q23 (FAA1), and 3p24-25 (TAAD2). " 01/01/2023 - "In addition to harbouring one variant causing familial TAAD, the FBN1 gene harboured half of the P/LP variants causing sporadic TAAD. " 11/01/2020 - "Variants in a predefined panel of 30 genes associated with the familial thoracic aortic aneurysm and dissection (TAAD) syndrome were evaluated. " 06/01/2019 - "Approximately 30 genes have been associated with syndromic and non-syndromic familial thoracic aortic aneurysm and dissection (TAAD) to date. "
2.	Genetic Markers (Genetic Marker)IBA 11/01/2004 - "In previous studies, investigators identified genetic markers shared by a subset of families who were ascertained to have the disease, which clustered into 2 chromosomal regions: 5q13-q15 (TAAD1) and 11q23.2-q24 (familial aortic aneurysm [FAA1]). "
3.	Transforming Growth Factor beta Receptors (TGF beta Receptors)IBA 05/01/2011 - "Familial aortic aneurysm and dissection due to transforming growth factor-beta receptor 2 mutation." 12/01/2006 - "To describe the clinical findings and natural history in 22 carriers of an R460H mutation in the transforming growth factor beta receptor 2 gene (TGFbetaR2) from a five-generation kindred ascertained by familial aortic dissection. " 02/01/2011 - "[Familial aortic dissection of non-Marfan syndrome with mutations in the transforming growth factor-beta receptor type 1 genes]." 07/26/2005 - "Having mapped a TAAD locus to 3p24-25, we sequenced the gene for transforming growth factor-beta receptor type II (TGFBR2) to determine whether mutations in this gene resulted in familial TAAD. "
4.	Transforming Growth Factor-beta Type I ReceptorIBA 11/01/2014 - "Aggressively prophylactic David procedure may be not necessary at a smaller aortic size in familial TAAD patients with TGFBR1 mutation and further observation is warranted." 11/01/2014 - "Familial TAAD caused by TGFBR1 mutation (c.1459C >T) was confirmed in a large Chinese Han ethnic family using exome sequencing. " 11/01/2014 - "Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation." 05/10/2013 - "In 110 non-syndromic TAAD patients that previously tested negative for FBN1 or TGFBR1/2 mutations, we identified 7 ACTA2 mutations in a cohort of 43 familial TAAD patients, including 2 premature truncating mutations. " 01/01/2016 - "A cohort of 68 non-syndromic familial TAAD Chinese patients was screened for the most common TAAD-causing genes (ACTA2, MYH11, TGFBR1, TGFBR2, and SMAD3) using high-resolution melting (HRM) analysis. "
5.	Polyethylene Terephthalates (Polyethylene Terephthalate)IBA 02/01/1995 - "In the case of mild or no annuloaortic ectasia, reconstruction of the aortic root is performed by correcting the dilated sinotubular junction and replacement of the aortic sinuses if they are also dilated with an appropriately tailored Dacron graft (remodeling). " 03/01/1994 - "If the annuloaortic ectasia is mild and the principal problem is loss of the sinotubular junction because of aneurysmal dilatation of the sinuses of Valsalva, aortic valve repair is accomplished by replacing one, two, or all three aortic sinuses with a properly tailored Dacron graft. " 03/01/1994 - "When significant annuloaortic ectasia is present, the reconstructive procedure consists of excising all three aortic sinuses and reimplanting the aortic valve inside a Dacron graft. " 02/01/1995 - "In the case of annuloaortic ectasia, reconstruction of the aortic root is performed by reimplanting the aortic valve in a tubular Dacron graft (reimplantation). " 09/01/2006 - "Valve-sparing aortic root reimplantation with creation of Dacron graft pseudosinuses is a popular and promising surgical choice for annuloaortic ectasia or ascending aortic aneurysm. "
6.	Transforming Growth Factor-beta Type II ReceptorIBA 07/26/2005 - "Germline TGFBR2 mutations are responsible for the inherited predisposition to familial TAAD in 5% of these cases. " 07/26/2005 - "We found TGFBR2 mutations in 4 unrelated families with familial TAAD who did not have Marfan syndrome. " 07/26/2005 - "We sequenced all 8 coding exons of TGFBR2 by using genomic DNA from 80 unrelated familial TAAD cases. " 01/01/2016 - "A cohort of 68 non-syndromic familial TAAD Chinese patients was screened for the most common TAAD-causing genes (ACTA2, MYH11, TGFBR1, TGFBR2, and SMAD3) using high-resolution melting (HRM) analysis. " 07/26/2005 - "Having mapped a TAAD locus to 3p24-25, we sequenced the gene for transforming growth factor-beta receptor type II (TGFBR2) to determine whether mutations in this gene resulted in familial TAAD. "
7.	Fibrillin-1IBA 01/01/2000 - "Fibrillin-1 mutations have also been found in patients who do not fulfil clinical criteria for the diagnosis of Marfan syndrome, but have related disorders of connective tissue, such as isolated ectopia lentis, familial aortic aneurysm, and Marfan-like skeletal abnormalities, so that Marfan syndrome may be regarded as one of a range of type 1 fibrillinopathies. " 05/22/2001 - "Familial aortic aneurysm (FAA) has been described in such conditions as the Marfan and Ehlers-Danlos type IV syndromes, due to defects in the fibrillin-1 and type III procollagen genes, respectively. " 08/01/2014 - "Fibrillin-1 interacts with transforming growth factor-β (TGF-β), and dysregulated TGF-β signaling plays a major role in the development of connective tissue disease and familial aortic aneurysm and dissection, including Marfan syndrome. "
8.	Myosin Heavy Chains (Myosin Heavy Chain)IBA 10/16/2023 - "Several genetic defects, including a mutation in myosin heavy chain 11 (Myh11), are reported to cause familial thoracic aortic aneurysm and dissection (FTAAD). " 11/01/2006 - "Mutations in myosin heavy chain (MYH11), a smooth muscle cell-specific contractile protein, have been identified in familial TAAD associated with patent ductus arteriosus (PDA) linked to 16p12.2-12.13. "
9.	SolutionsIBA 10/01/2017 - "Thus, the David I procedure appears to be safe, reproducible, and capable of achieving stable aortic valve repair and is therefore our currently preferred solution for patients with annuloaortic ectasia. " 05/01/1995 - "The use of 25% glutaraldehyde solution to strengthen the aorta of patients with annuloaortic ectasia, ascending and aortic arch aneurysms."
10.	CollagenIBA 08/01/1985 - "Elastin and collagen concentrations were determined in intimal-medial samples of ascending aortas from healthy controls of different ages and from 20 patients with annuloaortic ectasia (AAE). " 08/01/1985 - "Elastin and collagen in the aortic wall: changes in the Marfan syndrome and annuloaortic ectasia." 01/01/2018 - "Patients were identified by Current Procedural Terminology diagnostic codes 81405, 81408, and 81479 for genetic testing (Marfan syndrome, Loeys-Dietz syndrome, aneurysms-osteoarthritis syndrome, COL3A1, and familial thoracic aortic aneurysm panel [ACTA2, COL3A1, TGFBR1, TGFBR2, SMAD3, TGFB2, MYLK, MYH11, and PRKG1 genes]) and by review of the collagen vascular laboratory database for genetic testing results. "

Therapies and Procedures

1.	Therapeutics 03/01/2016 - "Valve sparing techniques can be used effectively even in patients with complicated clinical scenarios (like dextrocardia and annuloaortic ectasia) to avoid the potential risks related to prosthetic valve implantation and lifelong anticoagulation therapy. " 11/01/2005 - "Contrary to the literature, incidence of annuloaortic ectasia was high among the study population, greater than that of mitral valve prolapse, even during beta-blocker therapy." 03/01/1995 - "[The modified Bentall's operation for the prosthetic valve malfunction with annuloaortic ectasia due to aortitis syndrome--a successful case of the operation on steroid therapy]."
2.	Replantation 05/31/2023 - "Reimplantation is favored at our institution to provide maximum annular support in the setting of annuloaortic ectasia. " 04/01/2012 - "Valve-sparing aortic root reimplantation with creation of pseudosinuses, so-called "David-V" procedure,is a promising surgical choice to treat annuloaortic ectasia (AAE). " 03/01/2011 - "We report a patient with annuloaortic ectasia with a leaking valve that was successfully treated by performing aortic valve repair and root reimplantation. " 11/01/1997 - "Annuloaortic ectasia and severe aortic insufficiency mandated composite aortic valve and root replacement, with reimplantation of the coronary arteries. " 12/01/1991 - "Composite graft replacement with coronary reimplantation was employed in the treatment of annuloaortic ectasia. "
3.	Coronary Artery Bypass (Coronary Artery Bypass Surgery) 09/04/2023 - "A 79-year-old female who underwent the Bentall procedure using a stentless valve and coronary artery bypass grafting for annuloaortic ectasia 22 years ago was hospitalized for stage II bioprosthetic valve failure. " 12/01/1991 - "Of these 7, four patients with combined aortic and mitral valvular disease underwent double valve replacement; one patient with annuloaortic ectasia underwent a Cabrol's operation; another had aortic valve replacement; the last patient had triple coronary artery bypass grafts. " 06/27/2006 - "Concomitant cardiac operations were Bentall procedure for annuloaortic ectasia in one patient, coronary artery bypass grafting for three vessel disease in two patient, and patch closure of ventricular septal defect in one patient. " 08/01/1993 - "Among the patients having aortic root destructions due to acute aortic dissection or preexisting annuloaortic ectasia (Group III), 8 patients underwent aortic root reconstruction with a valved conduit and 2 patients supra-coronary aortic resection and graft replacement with concomitant coronary artery bypass grafting with 20.0% of hospital mortality and 55.6% of 10-year cumulative survival rate. " 12/01/2023 - "We performed the Bentall procedure, mitral valve repair, tricuspid annuloplasty, and coronary artery bypass graft on a 73-year-old man admitted with congestive heart failure caused by annuloaortic ectasia, along with severe aortic and mitral regurgitation. "
4.	Sternotomy 09/25/2018 - "We present here a case of Kommerell diverticulum (KD) with annuloaortic ectasia, in which single-stage surgical repair was performed via a median sternotomy using frozen elephant trunk (FET) technique. " 09/25/2018 - "Single-Stage Surgical Repair of Kommerell Diverticulum with Annuloaortic Ectasia via a Median Sternotomy: Frozen Elephant Trunk Technique with an Antler-Like Shape Reconstruction of Arch Branches." 04/01/2011 - "Open door approach by partial sternotomy and sterno-costo-chondroplasty for annuloaortic ectasia with pectus excavatum." 10/01/2003 - "Fourteen Marfan patients who received composite graft replacement for annuloaortic ectasia with or without aortic dissection required late reoperation thorough re-median sternotomy. " 07/01/2002 - "Fourteen Marfan patients who were operated on for annuloaortic ectasia (AAE) with or without type A aortic dissection required reoperation through re-median sternotomy for various reasons in the late postoperative period. "
5.	Bioprosthesis 01/01/2011 - "The aortic root of a 30-year-old man was replaced with a Freestyle stentless aortic bioprosthesis for aortic regurgitation associated with annuloaortic ectasia. " 05/01/2007 - "The bioprosthesis had been implanted to treat annuloaortic ectasia associated with severe aortic regurgitation (AR). " 01/01/2004 - "Full root replacement with stentless bioprosthesis is a suitable procedure for patients of advanced age with severe AS, aortic root dissection, or annuloaortic ectasia, because of its superior hemodynamics." 01/01/2004 - "The operative indications were aortic stenosis (AS) in 9 patients, aortic stenosis with regurgitation (ASR) in 4, and aortic regurgitation due to aortic root dissection or annuloaortic ectasia in 4. The valve size of the freestyle bioprosthesis was 25.1 +/- 2.6 mm, ranging from 21 to 29 mm. There were no early or late mortalities. "