Aorta Hastalıklarında Patogenez ve Genetik
Özet
Aort, sol ventrikülden pompalanan kanın arter yatağının her bir bölümüne dağıtılmasını sağlayan vücuttaki ana ve en büyük arterdir. Aort hastalıkları, geniş arteriyel hastalık yelpazesine sahiptir. Aort anevrizmaları, akut aortik sendromlar (aort diseksiyonu, intramural hematom, penetran aterosklerotik ülser), travmatik aort yaralanması, psödoanevrizma, aort rüptürü, genetik hastalıklar (Marfan sendromu vb.) ve aort koarktasyonu dahil olmak üzere konjenital anormallikler. Aort hastalığındaki patolojik değişiklikler, iki temel mekanizma yoluyla hastalığa yol açabilir:
1. Aterosklerozda olduğu gibi lümenin kademeli olarak daralması, tıkanması, tromboz veya emboli gibi ani daralma
2. Genişleme ve/veya yırtılmaya yol açan kan damarı duvarlarının zayıflaması (kistik medial nekroz, ateroskleroz veya inflamasyon nedeniyle aort duvarının patolojik olarak zayıflaması)
Hipertansiyonun yanı sıra genetik, konjenital kalp hastalıkları, ateroskleroz ve inflamatuvar damar hastalığı risk faktörleridir.
The aorta is the main and largest artery in the body, which distributes the blood pumped from the left ventricle to each part of the arterial bed. Aortic diseases cover a wide spectrum of arterial diseases. Congenital abnormalities, including aortic aneurysms, acute aortic syndromes (aortic dissection, intramural hematoma, penetrating atherosclerotic ulcer), traumatic aortic injury, pseudoaneurysm, aortic rupture, genetic diseases (Marfan syndrome, etc.) and aortic coarctation. Pathological changes in aortic disease can lead to disease through two primary mechanisms:
1. Gradual narrowing of the lumen, as in atherosclerosis, its occlusion, sudden narrowing, such as thrombosis or embolism
2. Weakening of blood vessel walls leading to expansion and/or rupture (pathological weakening of the aortic wall due to cystic medial necrosis, atherosclerosis or inflammation)
In addition to hypertension, genetics, congenital heart diseases, atherosclerosis and inflammatory vascular disease are risk factors.
Referanslar
Sampson UK, Fowkes FG, McDermott MM, et al. Global and regional burden of death and disability from peripheral artery disease: 21 world regions, 1990 to 2010. Glob. Heart 2014, 9, 145–158.e121. DOI: 10.1016/j.gheart.2013.12.008
Sampson UK, Norman PE, Fowkes FG, et al. Estimation of global and regional incidence and prevalence of abdominal aortic aneurysms 1990 to 2010. Glob. Heart 2014, 9, 159–170. https://doi.org/10.1016/j.gheart.2013.12.009
DeMartino RR, Sen I, Huang Y, et al. Population-Based Assessment of the Incidence of Aortic Dissection, Intramural Hematoma, and Penetrating Ulcer, and Its Associated Mortality From 1995 to 2015. Circ. Cardiovasc. Qual. Outcomes 2018, 11, e004689. https://doi.org/10.1161/CIRCOUTCOMES.118.004689
Kuzmik GA, Sang AX, Elefteriades JA. Natural history of thoracic aortic aneurysms. J. Vasc. Surg. 2012, 56, 565–571. https://doi.org/10.1016/j.jvs.2012.04.053
Writing Committee Members, Isselbacher EM, Preventza O, et al. (2022). 2022 ACC/AHA Guideline for the diagnosis and management of aortic disease: a report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Journal of the American College of Cardiology, 80(24), e223-e393. DOI: 10.1161/CIR.0000000000001106
Mann DL, Zipes DP, Libby P et al. (2015). Braunwald's heart disease: a textbook of cardiovascular medicine. Amsterdam, The Netherlands:Elsevier, 2015.
Vilacosta I, Aragoncillo P, Cañadas V, et al. Acute aortic syndrome: a new look at an old conundrum. Postgrad Med J. 2010;86(1011):52–61. doi:.https://doi.org/10.1136/hrt. 2008.153650
White A, Broder J, Mando-Vandrick J, et al. Acute aortic emergencies--part 2: aortic dissections. Adv Emerg Nurs J. 2013;35(1):28–52. https://doi.org/10.1097/ TME.0b013e31827145d0
Ishii T, Asuwa N. Collagen and elastin degradation by matrix metalloproteinases and tissue inhibitors of matrix metalloproteinase in aortic dissection. Hum Pathol. 2000;31(6):640–6. doi:.https://doi.org/10.1053/hupa.2000.7642
Del Porto F, di Gioia C, Tritapepe L, et al. The multitasking role of macrophages in Stanford type A acute aortic dissection. Cardiology. 2014;127(2):123–9. doi:.https://doi.org/10.1159/000355253
Curci JA, Liao S, Huffman MD, et al. Expression and localization of macrophage elastase (matrix metalloproteinase-12) in abdominal aortic aneurysms. J Clin Invest. 1998;102(11):1900–10. doi:.https://doi.org/10.1172/JCI2182
Koullias GJ, Ravichandran P, Korkolis DP, et al. Increased tissue microarray matrix metalloproteinase expression favors proteolysis in thoracic aortic aneurysms and dissections. Ann Thorac Surg. 2004;78(6):2106–10, discussion 2110–1. doi:.https://doi.org/10.1016/j.athoracsur.2004.05.088
Ikonomidis JS, Jones JA, Barbour JR, et al. Expression of matrix metalloproteinases and endogenous inhibitors within ascending aortic aneurysms of patients with Marfan syndrome. Circulation. 2006;114(1, Suppl):I365–70. https://doi.org/10.1161 /CIRCULATIONAHA.105.000810
Manabe T, Imoto K, Uchida K, et al. Decreased tissue inhibitor of metalloproteinase-2/matrix metalloproteinase ratio in the acute phase of aortic dissection. Surg Today. 2004;34(3):220–5. doi:.https://doi.org/10.1007/s00595-003-2683-3
Homme JL, Aubry MC, Edwards WD, et al. Surgical pathology of the ascending aorta: a clinicopathologic study of 513 cases. Am J Surg Pathol. 2006;30(9):1159–68. doi:.https://doi.org/10.1097/01.pas.0000213270.38091.69
Bunton TE, Biery NJ, Myers L, et al. Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome. Circ Res. 2001;88(1):37–43. doi:.https://doi.org/10.1161/01.RES.88.1.37
Ramirez F, Sakai LY, Dietz HC, et al. Fibrillin microfibrils: multipurpose extracellular networks in organismal physiology. Physiol Genomics. 2004;19(2):151–4. doi:.https://doi.org/10.1152/physiolgenomics.00092.2004
Détaint D, Faivre L, Collod-Beroud G, et al. Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J. 2010;31(18):2223–9. doi:.https://doi.org/10.1093/eurheartj/ehq258
Boutouyrie P, Germain DP, Fiessinger JN, et al. Increased carotid wall stress in vascular Ehlers-Danlos syndrome. Circulation. 2004;109(12):1530–5. doi:.https://doi.org/10.1161/01.CIR.0000121741.50315.C2
Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006;355(8):788–98. doi:.https://doi.org/10.1056/NEJMoa055695
Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002;39(12):1890–900. doi:.https://doi.org/10.1016/S0735-1097(02)01886-7
Fondard O, Detaint D, Iung B, et al. Extracellular matrix remodelling in human aortic valve disease: the role of matrix metalloproteinases and their tissue inhibitors. Eur Heart J. 2005;26(13):1333–41. doi:.https://doi.org/10.1093/eurheartj/ehi248
Fedak PW, de Sa MP, Verma S, et al. Vascular matrix remodeling in patients with bicuspid aortic valve malformations: implications for aortic dilatation. J Thorac Cardiovasc Surg. 2003;126(3):797–805. doi:.https://doi.org/10.1016/S0022-5223(03)00398-2
Andreassi MG, Della Corte A. Genetics of bicuspid aortic valve aortopathy. Curr Opin Cardiol. 2016;31(6):585–92. doi:.https://doi.org/10.1097/HCO.0000000000000328
Tadros TM, Klein MD, Shapira OM. Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation. 2009;119(6):880–90. doi:.https://doi.org/10.1161/CIRCULATIONAHA.108.795401
Michelena HI, Khanna AD, Mahoney D, et al. Incidence of aortic complications in patients with bicuspid aortic valves. JAMA. 2011;306(10):1104–12. doi:.https://doi.org/10.1001/jama.2011.1286
Guo DC, Grove ML, Prakash SK, et al. GenTAC Investigators; BAVCon Investigators. Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections. Am J Hum Genet. 2016;99(3):762–9. doi:.https://doi.org/10.1016/j.ajhg.2016.06.034
Macura K, Corl F, Fishman E, et al. Pathogenesis in Acute Aortic Syndromes: Aortic Dissection, Intramural Hematoma, and Penetrating Atherosclerotic Aortic Ulcer. AJR Am J Roentgenol. 2003;181(2):309-16. doi:10.2214/ajr.181.2.1810309
Ko J, Goldstein J, Latson L et al. Chest CT Angiography for Acute Aortic Pathologic Conditions: Pearls and Pitfalls. Radiographics. 2021;41(2):399-424. doi:10.1148/rg.2021200055
Hayashi H, Matsuoka Y, Sakamoto I et-al. Penetrating atherosclerotic ulcer of the aorta: imaging features and disease concept. Radiographics. 2000;20 (4): 995-1005. doi:10.1148/radiographics.20.4.g00jl01995
Kaynak Ç, Aslan M. Aort anevrizmalarında fizyopatoloji, klinik, tanı, ayırıcı tanı ve prognozun gözden geçirilmesi. Can MM, Ertaş F, editörler. Aort Hastalıkları ve Endovasküler Tedavisi. 1. Baskı. Ankara: Türkiye Klinikleri; 2022. p.6-10.
Güzel T, Arslan B. Aort anevrizmalarında tanım, sınıflama, epidemiyoloji ve etiyolojisinin gözden geçirilmesi. Can MM, Ertaş F, editörler. Aort Hastalıkları ve Endovasküler Tedavisi. 1. Baskı. Ankara: Türkiye Klinikleri;2022. p.1-5.
Griffin BP, Menon V. Kardiyovasküler Hastalıklar El Kitabı Kaynak (Çeviri Editörü Ömer Kozan) 5. Baskı. Ankara:Güneş Tıp Kitabevleri 2021 p.389-406.
Erbel R, Aboyans V, Boileau C, et al. 2014 ESC guidelines on the diagnosis and treatment of aortic diseases: document covering acute and chronic aortic disseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of aortic Diseases of the European Society of Cardiology (ESC). Eur Heart J. 2014;35(41):2873-926.doi:10. 1093/eurheartj/ehu281. Erratum in:Eur Herat J.2015;36(41):2779.
Isselbacher EM. Thoracic and abdominal aortic aneurysms. Circulation. 2005;111(6):816-28. doi: 10.1161/01.CIR.0000154569.08857.7A.
Kuzmik GA, Sang AX, Elefteriades JA. Natural history of thoracic aortic aneurysms. J Vasc Surg. 2012;56(2):565-71. doi:10.1016/j.jvs.2012.04.053.
Laukka D, Pan E, Fordell T, et al. Prevalence of thoracic aortic aneurysms and dilatations in patients with intracranial aneurysms. J Vasc Surg. 2019;70(6):1801-8. doi:10.1016/j.jvs.2019.01.066.
Lee CC, Lee MG, Hsieh R, et al. Oral fluoroquinolone and the risk of the aortic dissection. J Am Coll Cardiol. 2018;72:1369-78. doi: 10.1016/j.jacc.2018.06.067.
Tajima Y, Goto H, Ohara M, et al. Oral steroid use and abdominal aortic aneurysms expansion-positive association. Circ J. 2017;81(12):1774-82. doi: 10.1253/circj.CJ-16-0902.
Roberts WC. The congenitally bicuspid aortic valve. A study of 85 autopsy cases. Am J Cardiol 1970; 26(1):72–83. pmid:5427836
Michalowska IM, Hryniewiecki T, Kwiatek P, et al. Coronary artery variants and anomalies in patients with bicuspid aortic valve. J Thorac Imaging 2016; 31(3):156–162. doi:10.1097/RTI.0000000000000205
Benson DW. The genetics of congenital heart disease: a point in the revolution. Cardiol Clin 2002; 20(3):385–394. pmid:12371007
Emanuel R, Withers R, O’Brien K, et al. Congenitally bicuspid aortic valves. Clinicogenetic study of 41 families. Br Heart J 1978; 40(12):1402–1407. pmid:737099
Sachdev V, Matura LA, Sidenko S, et al. Aortic valve disease in Turner syndrome. J Am Coll Cardiol 2008; 51(19):1904–1909. doi:10.1016/j.jacc.2008.02.035
Duran AC, Frescura C, Sans-Coma V, et al. Bicuspid aortic valves in hearts with other congenital heart disease. J Heart Valve Dis 1995; 4(6):581–590. pmid:8611973
De Rubens Figueroa J, Rodríguez LM, Hach JL, et al. Cardiovascular spectrum in Williams-Beuren syndrome: the Mexican experience in 40 patients. Tex Heart Inst J 2008; 35(3):279–285. pmid:18941598
Yuan SM, Jing H. The bicuspid aortic valve and related disorders. Sao Paulo Med J 2010; 128(5):296–301. https://doi.org/10.1590 /S1516-31802010000500010
Cripe L, Andelfinger G, Martin LJ, et al. Bicuspid aortic valve is heritable. J Am Coll Cardiol 2004; 44(1):138–143. doi:10.1016 /j.jacc.2004.03.050
Kerstjens-Frederikse WS, Sarvaas GJ, Ruiter JS, et al. Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives? Heart 2011; 97(15):1228–1232. doi:10.1136 /hrt.2010.211433
Referanslar
Sampson UK, Fowkes FG, McDermott MM, et al. Global and regional burden of death and disability from peripheral artery disease: 21 world regions, 1990 to 2010. Glob. Heart 2014, 9, 145–158.e121. DOI: 10.1016/j.gheart.2013.12.008
Sampson UK, Norman PE, Fowkes FG, et al. Estimation of global and regional incidence and prevalence of abdominal aortic aneurysms 1990 to 2010. Glob. Heart 2014, 9, 159–170. https://doi.org/10.1016/j.gheart.2013.12.009
DeMartino RR, Sen I, Huang Y, et al. Population-Based Assessment of the Incidence of Aortic Dissection, Intramural Hematoma, and Penetrating Ulcer, and Its Associated Mortality From 1995 to 2015. Circ. Cardiovasc. Qual. Outcomes 2018, 11, e004689. https://doi.org/10.1161/CIRCOUTCOMES.118.004689
Kuzmik GA, Sang AX, Elefteriades JA. Natural history of thoracic aortic aneurysms. J. Vasc. Surg. 2012, 56, 565–571. https://doi.org/10.1016/j.jvs.2012.04.053
Writing Committee Members, Isselbacher EM, Preventza O, et al. (2022). 2022 ACC/AHA Guideline for the diagnosis and management of aortic disease: a report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Journal of the American College of Cardiology, 80(24), e223-e393. DOI: 10.1161/CIR.0000000000001106
Mann DL, Zipes DP, Libby P et al. (2015). Braunwald's heart disease: a textbook of cardiovascular medicine. Amsterdam, The Netherlands:Elsevier, 2015.
Vilacosta I, Aragoncillo P, Cañadas V, et al. Acute aortic syndrome: a new look at an old conundrum. Postgrad Med J. 2010;86(1011):52–61. doi:.https://doi.org/10.1136/hrt. 2008.153650
White A, Broder J, Mando-Vandrick J, et al. Acute aortic emergencies--part 2: aortic dissections. Adv Emerg Nurs J. 2013;35(1):28–52. https://doi.org/10.1097/ TME.0b013e31827145d0
Ishii T, Asuwa N. Collagen and elastin degradation by matrix metalloproteinases and tissue inhibitors of matrix metalloproteinase in aortic dissection. Hum Pathol. 2000;31(6):640–6. doi:.https://doi.org/10.1053/hupa.2000.7642
Del Porto F, di Gioia C, Tritapepe L, et al. The multitasking role of macrophages in Stanford type A acute aortic dissection. Cardiology. 2014;127(2):123–9. doi:.https://doi.org/10.1159/000355253
Curci JA, Liao S, Huffman MD, et al. Expression and localization of macrophage elastase (matrix metalloproteinase-12) in abdominal aortic aneurysms. J Clin Invest. 1998;102(11):1900–10. doi:.https://doi.org/10.1172/JCI2182
Koullias GJ, Ravichandran P, Korkolis DP, et al. Increased tissue microarray matrix metalloproteinase expression favors proteolysis in thoracic aortic aneurysms and dissections. Ann Thorac Surg. 2004;78(6):2106–10, discussion 2110–1. doi:.https://doi.org/10.1016/j.athoracsur.2004.05.088
Ikonomidis JS, Jones JA, Barbour JR, et al. Expression of matrix metalloproteinases and endogenous inhibitors within ascending aortic aneurysms of patients with Marfan syndrome. Circulation. 2006;114(1, Suppl):I365–70. https://doi.org/10.1161 /CIRCULATIONAHA.105.000810
Manabe T, Imoto K, Uchida K, et al. Decreased tissue inhibitor of metalloproteinase-2/matrix metalloproteinase ratio in the acute phase of aortic dissection. Surg Today. 2004;34(3):220–5. doi:.https://doi.org/10.1007/s00595-003-2683-3
Homme JL, Aubry MC, Edwards WD, et al. Surgical pathology of the ascending aorta: a clinicopathologic study of 513 cases. Am J Surg Pathol. 2006;30(9):1159–68. doi:.https://doi.org/10.1097/01.pas.0000213270.38091.69
Bunton TE, Biery NJ, Myers L, et al. Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome. Circ Res. 2001;88(1):37–43. doi:.https://doi.org/10.1161/01.RES.88.1.37
Ramirez F, Sakai LY, Dietz HC, et al. Fibrillin microfibrils: multipurpose extracellular networks in organismal physiology. Physiol Genomics. 2004;19(2):151–4. doi:.https://doi.org/10.1152/physiolgenomics.00092.2004
Détaint D, Faivre L, Collod-Beroud G, et al. Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J. 2010;31(18):2223–9. doi:.https://doi.org/10.1093/eurheartj/ehq258
Boutouyrie P, Germain DP, Fiessinger JN, et al. Increased carotid wall stress in vascular Ehlers-Danlos syndrome. Circulation. 2004;109(12):1530–5. doi:.https://doi.org/10.1161/01.CIR.0000121741.50315.C2
Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006;355(8):788–98. doi:.https://doi.org/10.1056/NEJMoa055695
Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002;39(12):1890–900. doi:.https://doi.org/10.1016/S0735-1097(02)01886-7
Fondard O, Detaint D, Iung B, et al. Extracellular matrix remodelling in human aortic valve disease: the role of matrix metalloproteinases and their tissue inhibitors. Eur Heart J. 2005;26(13):1333–41. doi:.https://doi.org/10.1093/eurheartj/ehi248
Fedak PW, de Sa MP, Verma S, et al. Vascular matrix remodeling in patients with bicuspid aortic valve malformations: implications for aortic dilatation. J Thorac Cardiovasc Surg. 2003;126(3):797–805. doi:.https://doi.org/10.1016/S0022-5223(03)00398-2
Andreassi MG, Della Corte A. Genetics of bicuspid aortic valve aortopathy. Curr Opin Cardiol. 2016;31(6):585–92. doi:.https://doi.org/10.1097/HCO.0000000000000328
Tadros TM, Klein MD, Shapira OM. Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation. 2009;119(6):880–90. doi:.https://doi.org/10.1161/CIRCULATIONAHA.108.795401
Michelena HI, Khanna AD, Mahoney D, et al. Incidence of aortic complications in patients with bicuspid aortic valves. JAMA. 2011;306(10):1104–12. doi:.https://doi.org/10.1001/jama.2011.1286
Guo DC, Grove ML, Prakash SK, et al. GenTAC Investigators; BAVCon Investigators. Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections. Am J Hum Genet. 2016;99(3):762–9. doi:.https://doi.org/10.1016/j.ajhg.2016.06.034
Macura K, Corl F, Fishman E, et al. Pathogenesis in Acute Aortic Syndromes: Aortic Dissection, Intramural Hematoma, and Penetrating Atherosclerotic Aortic Ulcer. AJR Am J Roentgenol. 2003;181(2):309-16. doi:10.2214/ajr.181.2.1810309
Ko J, Goldstein J, Latson L et al. Chest CT Angiography for Acute Aortic Pathologic Conditions: Pearls and Pitfalls. Radiographics. 2021;41(2):399-424. doi:10.1148/rg.2021200055
Hayashi H, Matsuoka Y, Sakamoto I et-al. Penetrating atherosclerotic ulcer of the aorta: imaging features and disease concept. Radiographics. 2000;20 (4): 995-1005. doi:10.1148/radiographics.20.4.g00jl01995
Kaynak Ç, Aslan M. Aort anevrizmalarında fizyopatoloji, klinik, tanı, ayırıcı tanı ve prognozun gözden geçirilmesi. Can MM, Ertaş F, editörler. Aort Hastalıkları ve Endovasküler Tedavisi. 1. Baskı. Ankara: Türkiye Klinikleri; 2022. p.6-10.
Güzel T, Arslan B. Aort anevrizmalarında tanım, sınıflama, epidemiyoloji ve etiyolojisinin gözden geçirilmesi. Can MM, Ertaş F, editörler. Aort Hastalıkları ve Endovasküler Tedavisi. 1. Baskı. Ankara: Türkiye Klinikleri;2022. p.1-5.
Griffin BP, Menon V. Kardiyovasküler Hastalıklar El Kitabı Kaynak (Çeviri Editörü Ömer Kozan) 5. Baskı. Ankara:Güneş Tıp Kitabevleri 2021 p.389-406.
Erbel R, Aboyans V, Boileau C, et al. 2014 ESC guidelines on the diagnosis and treatment of aortic diseases: document covering acute and chronic aortic disseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of aortic Diseases of the European Society of Cardiology (ESC). Eur Heart J. 2014;35(41):2873-926.doi:10. 1093/eurheartj/ehu281. Erratum in:Eur Herat J.2015;36(41):2779.
Isselbacher EM. Thoracic and abdominal aortic aneurysms. Circulation. 2005;111(6):816-28. doi: 10.1161/01.CIR.0000154569.08857.7A.
Kuzmik GA, Sang AX, Elefteriades JA. Natural history of thoracic aortic aneurysms. J Vasc Surg. 2012;56(2):565-71. doi:10.1016/j.jvs.2012.04.053.
Laukka D, Pan E, Fordell T, et al. Prevalence of thoracic aortic aneurysms and dilatations in patients with intracranial aneurysms. J Vasc Surg. 2019;70(6):1801-8. doi:10.1016/j.jvs.2019.01.066.
Lee CC, Lee MG, Hsieh R, et al. Oral fluoroquinolone and the risk of the aortic dissection. J Am Coll Cardiol. 2018;72:1369-78. doi: 10.1016/j.jacc.2018.06.067.
Tajima Y, Goto H, Ohara M, et al. Oral steroid use and abdominal aortic aneurysms expansion-positive association. Circ J. 2017;81(12):1774-82. doi: 10.1253/circj.CJ-16-0902.
Roberts WC. The congenitally bicuspid aortic valve. A study of 85 autopsy cases. Am J Cardiol 1970; 26(1):72–83. pmid:5427836
Michalowska IM, Hryniewiecki T, Kwiatek P, et al. Coronary artery variants and anomalies in patients with bicuspid aortic valve. J Thorac Imaging 2016; 31(3):156–162. doi:10.1097/RTI.0000000000000205
Benson DW. The genetics of congenital heart disease: a point in the revolution. Cardiol Clin 2002; 20(3):385–394. pmid:12371007
Emanuel R, Withers R, O’Brien K, et al. Congenitally bicuspid aortic valves. Clinicogenetic study of 41 families. Br Heart J 1978; 40(12):1402–1407. pmid:737099
Sachdev V, Matura LA, Sidenko S, et al. Aortic valve disease in Turner syndrome. J Am Coll Cardiol 2008; 51(19):1904–1909. doi:10.1016/j.jacc.2008.02.035
Duran AC, Frescura C, Sans-Coma V, et al. Bicuspid aortic valves in hearts with other congenital heart disease. J Heart Valve Dis 1995; 4(6):581–590. pmid:8611973
De Rubens Figueroa J, Rodríguez LM, Hach JL, et al. Cardiovascular spectrum in Williams-Beuren syndrome: the Mexican experience in 40 patients. Tex Heart Inst J 2008; 35(3):279–285. pmid:18941598
Yuan SM, Jing H. The bicuspid aortic valve and related disorders. Sao Paulo Med J 2010; 128(5):296–301. https://doi.org/10.1590 /S1516-31802010000500010
Cripe L, Andelfinger G, Martin LJ, et al. Bicuspid aortic valve is heritable. J Am Coll Cardiol 2004; 44(1):138–143. doi:10.1016 /j.jacc.2004.03.050
Kerstjens-Frederikse WS, Sarvaas GJ, Ruiter JS, et al. Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives? Heart 2011; 97(15):1228–1232. doi:10.1136 /hrt.2010.211433
