{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T11:30:06Z","timestamp":1791545406947,"version":"4.3.4"},"reference-count":42,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,1]]},"DOI":"10.1097\/hco.0000000000000023","type":"journal-article","created":{"date-parts":[[2013,11,27]],"date-time":"2013-11-27T09:14:23Z","timestamp":1385543663000},"page":"97-102","source":"Crossref","is-referenced-by-count":68,"title":["Heritable thoracic aortic disorders"],"prefix":"10.1097","volume":"29","author":[{"given":"Reed E.","family":"Pyeritz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-14-20210204","doi-asserted-by":"crossref","first-page":"S91","DOI":"10.1161\/CIRCULATIONAHA.111.084541","article-title":"Acute aortic intramural hematoma: an analysis from the International Registry of Acute Aortic Dissection.","volume":"126","author":"Harris","year":"2012","journal-title":"Circulation"},{"key":"R2-14-20210204","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1002\/ajmg.a.35836","article-title":"GenTAC Registry report: gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection.","volume":"161A","author":"Holmes","year":"2013","journal-title":"Am J Med Genet A"},{"key":"R4-14-20210204","first-page":"e266","article-title":"2010 ACCFAHAAATSACRASASCASCAISIRSTSSVM guidelines for the diagnosis and management of patients with thoracic aortic disease: executive summary.","volume":"121","author":"Hiratzka","year":"2010","journal-title":"Circulation"},{"key":"R6-14-20210204","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.mayocp.2012.11.005","article-title":"Losartan added to -blockade therapy for aortic root dilation in Marfan syndrome: a randomized, open-label pilot study.","volume":"88","author":"Chiu","year":"2013","journal-title":"Mayo Clin Proc"},{"key":"R7-14-20210204","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1016\/j.amjcard.2013.06.019","article-title":"Usefulness of losartan on the size of the ascending aorta in an unselected cohort of children, adolescents, and young adults with Marfan syndrome.","volume":"112","author":"Pees","year":"2013","journal-title":"Am J Cardiol"},{"key":"R8-14-20210204","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1016\/j.ahj.2013.02.019","article-title":"Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy.","volume":"165","author":"Lacro","year":"2013","journal-title":"Am Heart J"},{"key":"R9-14-20210204","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.jtcvs.2011.10.024","article-title":"Long-term implications of emergency versus elective proximal aortic surgery in Marfan syndrome patients in the GenTAC Registry.","volume":"143","author":"Song","year":"2012","journal-title":"J Thorac Cardiovasc Surg"},{"key":"R10-14-20210204","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1056\/NEJM199904293401702","article-title":"Surgery for ascending aortic disease in Marfan patients: a multicenter study.","volume":"340","author":"Gott","year":"1999","journal-title":"N Engl J Med"},{"key":"R11-14-20210204","doi-asserted-by":"crossref","first-page":"1124","DOI":"10.1016\/j.jtcvs.2009.03.023","article-title":"Valve-sparing and valve-replacing techniques for aortic root replacement in patients with Marfan syndrome: analysis of early outcome.","volume":"137","author":"Volguina","year":"2009","journal-title":"J Thorac Cardiovasc Surg"},{"key":"R12-14-20210204","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.jtcvs.2012.09.013","article-title":"David valve-sparing aortic root replacement: equivalent mid-term outcome for different valve types with or without connective tissue disorder.","volume":"145","author":"Kvitting","year":"2013","journal-title":"J Thorac Cardiovasc Surg"},{"key":"R13-14-20210204","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1016\/j.mri.2013.04.003","article-title":"Evaluation of Marfan patients status post valve-sparing aortic root replacement with 4D flow.","volume":"31","author":"Hope","year":"2013","journal-title":"Magn Reson Imaging"},{"key":"R14-14-20210204","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1111\/j.1365-2362.2012.02668.x","article-title":"Effects of atenolol, perindopril and verapamil on haemodynamic and vascular function in Marfan syndrome - a randomized, double-blind, crossover trial.","volume":"42","author":"Williams","year":"2012","journal-title":"Eur J Clin Invest"},{"key":"R15-14-20210204","doi-asserted-by":"crossref","first-page":"1569","DOI":"10.1161\/CIRCULATIONAHA.113.001457","article-title":"Acute aortic dissection determines the fate of initially untreated aortic segments in Marfan syndrome.","volume":"127","author":"Schoenhoff","year":"2013","journal-title":"Circulation"},{"key":"R16-14-20210204","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1016\/j.amjmed.2013.01.020","article-title":"The IRAD classification system for characterizing survival after aortic dissection.","volume":"126","author":"Booher","year":"2013","journal-title":"Am J Med"},{"key":"R18-14-20210204","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1007\/s00431-012-1773-x","article-title":"Connective tissue disorders with vascular involvement: from gene to therapy.","volume":"172","author":"Van Laer","year":"2013","journal-title":"Eur J Pediatr"},{"key":"R19-14-20210204","doi-asserted-by":"crossref","first-page":"3090","DOI":"10.1002\/ajmg.a.34332","article-title":"Vascular Ehlers-Danlos syndrome presenting as rapidly progressive multiple arterial aneurysms and dissections.","volume":"155A","author":"Mortani Barbosa","year":"2011","journal-title":"Am J Med Genet"},{"key":"R20-14-20210204","doi-asserted-by":"crossref","first-page":"1476","DOI":"10.1016\/S0140-6736(10)60960-9","article-title":"Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomized, open, blinded-endpoints trial.","volume":"376","author":"Ong","year":"2010","journal-title":"Lancet"},{"key":"R21-14-20210204","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.avsg.2011.05.028","article-title":"Endovascular procedures in patients with Ehlers-Danlos syndrome: a review of clinical outcomes and iatrogenic complications.","volume":"26","author":"Lum","year":"2012","journal-title":"Ann Vasc Surg"},{"key":"R22-14-20210204","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1097\/GIM.0b013e3182180c89","article-title":"COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.","volume":"13","author":"Leistritz","year":"2011","journal-title":"Genet Med"},{"key":"R23-14-20210204","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1161\/HYPERTENSIONAHA.113.01359","article-title":"Vascular lesions in Ehlers-Danlos syndrome: is angiotensin II the culprit H","volume":"62","author":"Heagerty","year":"2013","journal-title":"ypertension"},{"key":"R24-14-20210204","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1056\/NEJMoa055695","article-title":"Aneurysm syndromes caused by mutations in TGF- receptor.","volume":"355","author":"Loeys","year":"2006","journal-title":"N Engl J Med"},{"key":"R25-14-20210204","doi-asserted-by":"crossref","first-page":"2125","DOI":"10.1002\/ajmg.a.34050","article-title":"Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms.","volume":"155","author":"Regalado","year":"2011","journal-title":"Am J Med Genet A"},{"key":"R26-14-20210204","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1038\/ng.2348","article-title":"TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.","volume":"44","author":"Boileau","year":"2012","journal-title":"Nat Genet"},{"key":"R27-14-20210204","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1038\/ng.744","article-title":"Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.","volume":"43","author":"van de Laar","year":"2011","journal-title":"Nat Genet"},{"key":"R28-14-20210204","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1161\/CIRCRESAHA.111.248161","article-title":"Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.","volume":"109","author":"Regalado","year":"2011","journal-title":"Circ Res"},{"key":"R29-14-20210204","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1002\/humu.20623","article-title":"Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.","volume":"29","author":"Callewaert","year":"2008","journal-title":"Hum Mutat"},{"key":"R30-14-20210204","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1146\/annurev.genom.8.080706.092303","article-title":"Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.","volume":"9","author":"Milewicz","year":"2008","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"R31-14-20210204","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1097\/GIM.0b013e3181cdd687","article-title":"Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: evidence for a hyperplastic vasculomyopathy.","volume":"12","author":"Milewicz","year":"2010","journal-title":"Genet Med"},{"key":"R32-14-20210204","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1016\/j.ajhg.2009.04.007","article-title":"Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.","volume":"84","author":"Guo","year":"2009","journal-title":"Am J Hum Genet"},{"key":"R33-14-20210204","doi-asserted-by":"crossref","first-page":"2437","DOI":"10.1002\/ajmg.a.33657","article-title":"De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.","volume":"152A","author":"Milewicz","year":"2010","journal-title":"Am J Med Genet"},{"key":"R34-14-20210204","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1002\/ajmg.a.35206","article-title":"R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.","volume":"158A","author":"Richer","year":"2012","journal-title":"Am J Med Genet A"},{"key":"R35-14-20210204","doi-asserted-by":"crossref","first-page":"2453","DOI":"10.1093\/hmg\/ddm201","article-title":"MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.","volume":"16","author":"Pannu","year":"2007","journal-title":"Hum Mol Genet"},{"key":"R36-14-20210204","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1161\/CIRCRESAHA.111.261743","article-title":"Rare, nonsynonymous variant in the smooth muscle-specific isoform of myosin heavy chain, MYH11, R247C, alters force generation in the aorta and phenotype of smooth muscle cells.","volume":"110","author":"Kuang","year":"2012","journal-title":"Circ Res"},{"key":"R37-14-20210204","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.ajhg.2013.06.019","article-title":"Recurrent gain of function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.","volume":"93","author":"Guo","year":"2013","journal-title":"Am J Hum Genet"},{"key":"R38-14-20210204","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1016\/0002-9343(81)90341-7","article-title":"Ehlers-Danlos syndrome with abnormal collagen fibrils, sinus of Valsalva aneurysms, myocardial infarction, panacinar emphysema, and cerebral heterotopias.","volume":"71","author":"Cupo","year":"1981","journal-title":"Am J Med"},{"key":"R39-14-20210204","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1038\/ejhg.2012.209","article-title":"Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in filamin A.","volume":"21","author":"Reinstein","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"R40-14-20210204","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1002\/hep.510290331","article-title":"Features of Alagille syndrome in 92 patients: frequency and relation to prognosis.","volume":"29","author":"Emerick","year":"1999","journal-title":"Hepatology"},{"key":"R41-14-20210204","doi-asserted-by":"crossref","first-page":"2567","DOI":"10.1161\/01.CIR.0000037221.45902.69","article-title":"Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation andor Alagille syndrome.","volume":"106","author":"McElhinney","year":"2002","journal-title":"Circulation"},{"key":"R42-14-20210204","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/nature03940","article-title":"Mutations in NOTCH1 cause aortic valve disease.","volume":"437","author":"Garg","year":"2005","journal-title":"Nature"},{"key":"R43-14-20210204","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/j.jtcvs.2007.02.041","article-title":"Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms.","volume":"134","author":"McKellar","year":"2007","journal-title":"J Thorac Cardiovasc Surg"},{"key":"R45-14-20210204","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1161\/CIRCRESAHA.113.300675","article-title":"Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor- signaling and vascular smooth muscle cell contractility.","volume":"113","author":"Gillis","year":"2013","journal-title":"Circ Res"},{"key":"R46-14-20210204","doi-asserted-by":"crossref","first-page":"S2","DOI":"10.1016\/j.jtcvs.2010.07.027","article-title":"Treatment guidelines for thoracic aortic aneurysms and dissections based on the underlying causative gene.","volume":"140","author":"Milewicz","year":"2010","journal-title":"Thorac Cardiovasc Surg"}],"container-title":["Current Opinion in Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/HCO.0000000000000023","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,14]],"date-time":"2021-05-14T00:42:36Z","timestamp":1620952956000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00001573-201401000-00014"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1]]},"references-count":42,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014]]}},"URL":"https:\/\/doi.org\/10.1097\/hco.0000000000000023","relation":{},"ISSN":["0268-4705"],"issn-type":[{"value":"0268-4705","type":"print"}],"subject":[],"published":{"date-parts":[[2014,1]]}}}