Genetik Sendromlarda Aort Tutulumu

Nelson Textbook of Pediatrics, Twenty-First Edition (2020) Chapter 451 - Epidemiology and Genetic Basis of Congenital Heart Disease, Daniel Bernstein, 2367-2371.e1. doi:10.1016/B978-0-323-52950-1.00451-X

Judge DP, Dietz HC. Marfan's syndrome. Lancet 2005; 366:1965. DOI: 10.1016/S0140-6736(05)67789-6

Tsipouras P, Del Mastro R, Sarfarazi M, et al. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. N Engl J Med 1992; 326:905. DOI: 10.1056/NEJM199204023261401

Naser M. Ammash, Thoralf M. Sundt, Heidi M. Connolly, Marfan Syndrome—Diagnosis and Management, Current Problems in Cardiology, Volume 33, Issue 1, 2008, Pages 7-39, https://doi.org/10.1016/j.cpcardiol.2007.10.001.

van Andel MM, Groenink M, Zwinderman AH, Mulder BJM, de Waard V. The Potential Beneficial Effects of Resveratrol on Cardiovascular Complications in Marfan Syndrome Patients⁻Insights from Rodent-Based Animal Studies. Int J Mol Sci. 2019 Mar 5;20(5):1122. doi: 10.3390/ijms20051122. PMID: 30841577; PMCID: PMC6429290.

Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47(7):476–485.

Faivre L, Collod-Beroud G, Child A, et al. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. J Med Genet. 2008;45(6):384–390.

Van Laer L, Proost D, Loeys BL. Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy. Eur J Pediatr. 2013;172(8):997–1005.

Jefferies JL, Martinez HR, Towbin JA. Genetics of congenital and acquired cardiovascular disease. In: Pediatric and Congenital Cardiology, Cardiac Surgery and Intensive Care. London: Springer London; 2014:3–16.

Silverman DI, Burton KJ, Gray J, et al. Life expectancy in the Marfan syndrome. Am J Cardiol. 1995;75(2):157–160.

Milewicz DM, Ramirez F. Therapies for thoracic aortic aneurysms and acute aortic dissections. Arterioscler Thromb Vasc Biol. 2019;39(2):126–136.

Hofmann Bowman MA, Eagle KA, Milewicz DM. Update on clinical trials of losartan with and without beta- blockers to block aneurysm growth in patients with Marfan syndrome: a review. JAMA Cardiol. 2019;4(7):702–707.

Braunwald's Heart Disease, Twelveth Edition, (2022) 806-836. doi:10.1016/B978-0-323-72219-3.00042-6

Jondeau G, Ropers J, Regalado E, et al. International registry of patients carrying TGFBR1 or TGFBR2 mutations: results of the MAC (Montalcino Aortic Consortium). Circ Cardiovasc Genet. 2016;9(6):548–558.

Pinard A, Jones GT, Milewicz DM. Genetics of thoracic and abdominal aortic diseases. Circ Res. 2019;124(4):588–606.

Williams JA, Loeys BL, Nwakanma LU, et al. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg. 2007;83(2):S757–S763.

Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-β receptor. N Engl J Med. 2006;355(8):788–798.

Anderson's Pediatric Cardiology, Fourth Edition (2020) 1077-1085.e1. doi:10.1016/B978-0-7020-7608-4.00068-6

Patel ND, Alejo D, Crawford T, et al. Aortic root replacement for children with Loeys-Dietz syndrome. Ann Thorac Surg. 2017;103(5):1513–1518.

Parapia LA, Jackson C. Ehlers-Danlos syndrome – a historical review. Br J Haematol. 2008;141(1):32–35.

Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8–26.

Shalhub S, Byers PH, Hicks KL, et al. A multi- institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers- Danlos syndrome. J Vasc Surg. 2019;70(5):1543–1554.

Byers PH, Belmont J, Black J, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2017;175(1):40–47.

Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers–Danlos syndrome type IV, the vascular type. N Engl J Med. 2000;342(10):673–680.

Nelson Textbook of Pediatrics, Twenty-First Edition (2020) 3525-3531.e1. doi:10.1016/B978-0-323-52950-1.00679-9

Bonita RE, Cohen IS, Berko BA. Valvular heart disease in osteogenesis imperfecta: presentation of a case and review of the literature. Echocardiography. 2010;27(1):69–73.

Balasubramanian M, Verschueren A, Kleevens S, et al. Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature. Bone 2019; 121:191.

Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet 2006;38(4):452–7.

Cellular and Molecular Pathobiology of Cardiovascular Disease, (2014) Marc K. Halushka MD PhD, 239-255. doi:10.1016/B978-0-12-405206-2.00013-2

Smith's Recognizable Patterns of Human Malformation, Eightth Edition, (2021) 658–697. doi:10.1016/B978-0-323-63882-1.00016-2

Szabo Z, Crepeau MW, Mitchell AL, et al. Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. J Med Genet. 2006;43(3):255–258.

Calcagni G, Limongelli G, D'Ambrosio A, et al. Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results. Int J Cardiol 2017; 245:92.

Prendiville TW, Gauvreau K, Tworog-Dube E, et al. Cardiovascular disease in Noonan syndrome. Arch Dis Child 2014; 99:629.

Cornwall JW, Green RS, Nielsen JC, Gelb BD. Frequency of aortic dilation in Noonan syndrome. Am J Cardiol 2014; 113:368.

Anderson's Pediatric Cardiology, Fourth Edition (2020) 1407-1420.e4. doi:10.1016/B978-0-7020-7608-4.00087-X

Silberbach M, Roos- Hesselink JW, Andersen NH, et al. Cardiovascular health in Turner syndrome: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2018;11(10):e000048.

Morris CA, Braddock SR, COUNCIL ON GENETICS. Health Care Supervision for Children With Williams Syndrome. Pediatrics 2020; 145.

Collins RT 2nd, Kaplan P, Somes GW, Rome JJ. Long-term outcomes of patients with cardiovascular abnormalities and williams syndrome. Am J Cardiol 2010; 105:874.

Collins RT 2nd. Cardiovascular disease in Williams syndrome. Circulation 2013; 127:2125.

Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 2011; 159:332.

John AS, Rychik J, Khan M, Yang W, Goldmuntz E. 22q11.2 deletion syndrome as a risk factor for aortic root dilation in tetralogy of fallot. Cardiol Young. 2014;24:303–310.

Kawame H, Hannibal MC, Hudgins L, et al. Phenotypic spectrum and management issues in kabuki syndrome. J Pediatr. 1999;134: 480–485.

Nelson Textbook of Pediatrics, Twenty-First Edition (2020) Chapter 451 - Epidemiology and Genetic Basis of Congenital Heart Disease, Daniel Bernstein, 2367-2371.e1. doi:10.1016/B978-0-323-52950-1.00451-X

Judge DP, Dietz HC. Marfan's syndrome. Lancet 2005; 366:1965. DOI: 10.1016/S0140-6736(05)67789-6

Tsipouras P, Del Mastro R, Sarfarazi M, et al. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. N Engl J Med 1992; 326:905. DOI: 10.1056/NEJM199204023261401

Naser M. Ammash, Thoralf M. Sundt, Heidi M. Connolly, Marfan Syndrome—Diagnosis and Management, Current Problems in Cardiology, Volume 33, Issue 1, 2008, Pages 7-39, https://doi.org/10.1016/j.cpcardiol.2007.10.001.

van Andel MM, Groenink M, Zwinderman AH, Mulder BJM, de Waard V. The Potential Beneficial Effects of Resveratrol on Cardiovascular Complications in Marfan Syndrome Patients⁻Insights from Rodent-Based Animal Studies. Int J Mol Sci. 2019 Mar 5;20(5):1122. doi: 10.3390/ijms20051122. PMID: 30841577; PMCID: PMC6429290.

Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47(7):476–485.

Faivre L, Collod-Beroud G, Child A, et al. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. J Med Genet. 2008;45(6):384–390.

Van Laer L, Proost D, Loeys BL. Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy. Eur J Pediatr. 2013;172(8):997–1005.

Jefferies JL, Martinez HR, Towbin JA. Genetics of congenital and acquired cardiovascular disease. In: Pediatric and Congenital Cardiology, Cardiac Surgery and Intensive Care. London: Springer London; 2014:3–16.

Silverman DI, Burton KJ, Gray J, et al. Life expectancy in the Marfan syndrome. Am J Cardiol. 1995;75(2):157–160.

Milewicz DM, Ramirez F. Therapies for thoracic aortic aneurysms and acute aortic dissections. Arterioscler Thromb Vasc Biol. 2019;39(2):126–136.

Hofmann Bowman MA, Eagle KA, Milewicz DM. Update on clinical trials of losartan with and without beta- blockers to block aneurysm growth in patients with Marfan syndrome: a review. JAMA Cardiol. 2019;4(7):702–707.

Braunwald's Heart Disease, Twelveth Edition, (2022) 806-836. doi:10.1016/B978-0-323-72219-3.00042-6

Jondeau G, Ropers J, Regalado E, et al. International registry of patients carrying TGFBR1 or TGFBR2 mutations: results of the MAC (Montalcino Aortic Consortium). Circ Cardiovasc Genet. 2016;9(6):548–558.

Pinard A, Jones GT, Milewicz DM. Genetics of thoracic and abdominal aortic diseases. Circ Res. 2019;124(4):588–606.

Williams JA, Loeys BL, Nwakanma LU, et al. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg. 2007;83(2):S757–S763.

Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-β receptor. N Engl J Med. 2006;355(8):788–798.

Anderson's Pediatric Cardiology, Fourth Edition (2020) 1077-1085.e1. doi:10.1016/B978-0-7020-7608-4.00068-6

Patel ND, Alejo D, Crawford T, et al. Aortic root replacement for children with Loeys-Dietz syndrome. Ann Thorac Surg. 2017;103(5):1513–1518.

Parapia LA, Jackson C. Ehlers-Danlos syndrome – a historical review. Br J Haematol. 2008;141(1):32–35.

Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8–26.

Shalhub S, Byers PH, Hicks KL, et al. A multi- institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers- Danlos syndrome. J Vasc Surg. 2019;70(5):1543–1554.

Byers PH, Belmont J, Black J, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2017;175(1):40–47.

Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers–Danlos syndrome type IV, the vascular type. N Engl J Med. 2000;342(10):673–680.

Nelson Textbook of Pediatrics, Twenty-First Edition (2020) 3525-3531.e1. doi:10.1016/B978-0-323-52950-1.00679-9

Bonita RE, Cohen IS, Berko BA. Valvular heart disease in osteogenesis imperfecta: presentation of a case and review of the literature. Echocardiography. 2010;27(1):69–73.

Balasubramanian M, Verschueren A, Kleevens S, et al. Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature. Bone 2019; 121:191.

Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet 2006;38(4):452–7.

Cellular and Molecular Pathobiology of Cardiovascular Disease, (2014) Marc K. Halushka MD PhD, 239-255. doi:10.1016/B978-0-12-405206-2.00013-2

Smith's Recognizable Patterns of Human Malformation, Eightth Edition, (2021) 658–697. doi:10.1016/B978-0-323-63882-1.00016-2

Szabo Z, Crepeau MW, Mitchell AL, et al. Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. J Med Genet. 2006;43(3):255–258.

Calcagni G, Limongelli G, D'Ambrosio A, et al. Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results. Int J Cardiol 2017; 245:92.

Prendiville TW, Gauvreau K, Tworog-Dube E, et al. Cardiovascular disease in Noonan syndrome. Arch Dis Child 2014; 99:629.

Cornwall JW, Green RS, Nielsen JC, Gelb BD. Frequency of aortic dilation in Noonan syndrome. Am J Cardiol 2014; 113:368.

Anderson's Pediatric Cardiology, Fourth Edition (2020) 1407-1420.e4. doi:10.1016/B978-0-7020-7608-4.00087-X

Silberbach M, Roos- Hesselink JW, Andersen NH, et al. Cardiovascular health in Turner syndrome: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2018;11(10):e000048.

Morris CA, Braddock SR, COUNCIL ON GENETICS. Health Care Supervision for Children With Williams Syndrome. Pediatrics 2020; 145.

Collins RT 2nd, Kaplan P, Somes GW, Rome JJ. Long-term outcomes of patients with cardiovascular abnormalities and williams syndrome. Am J Cardiol 2010; 105:874.

Collins RT 2nd. Cardiovascular disease in Williams syndrome. Circulation 2013; 127:2125.

Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 2011; 159:332.

John AS, Rychik J, Khan M, Yang W, Goldmuntz E. 22q11.2 deletion syndrome as a risk factor for aortic root dilation in tetralogy of fallot. Cardiol Young. 2014;24:303–310.

Kawame H, Hannibal MC, Hudgins L, et al. Phenotypic spectrum and management issues in kabuki syndrome. J Pediatr. 1999;134: 480–485.