Adults with genetic syndromes and cardiovascular abnormalities: Clinical history and management

Genetics in Medicine

Volumn 10, Issue 7, 2008, Pages 469-494

  Lin, Angela E ^a   Basson, Craig T ^b   Goldmuntz, Elizabeth ^c   Magoulas, Pilar L ^d   McDermott, Deborah A ^b   McDonald McGinn, Donna M ^c   McPherson, Elspeth ^e   Morris, Colleen A ^f   Noonan, Jacqueline ^g   Nowak, Catherine ^h   Pierpont, Mary Ella ⁱ   Pyeritz, Reed E ^c   Rope, Alan F ^j   Zackai, Elaine ^c   Pober, Barbara R ^a,k  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b WEILL CORNELL MEDICAL COLLEGE   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e MARSHFIELD CLINIC   (United States)

^f UNIVERSITY OF NEVADA SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF KENTUCKY   (United States)

^h National Birth Defects Center   (United States)

ⁱ UNIVERSITY OF MINNESOTA   (United States)

^j UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^k BOSTON CHILDREN S HOSPITAL   (United States)

more..

Author keywords

Congenital heart defect; Deletion 22q11; Down syndrome; Marfan syndrome; Noonan syndrome; Turner syndrome; Williams Beuren syndrome

Indexed keywords

ANGIOTENSIN RECEPTOR ANTAGONIST; ANTIHYPERTENSIVE AGENT; ATENOLOL; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; FIBRILLIN 1; GROWTH HORMONE; LOSARTAN; TRANSCRIPTION FACTOR TBX5; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA RECEPTOR; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

AORTA DISEASE; AORTA SUPRAVALVULAR STENOSIS; CARDIOVASCULAR RISK; CARDIOVASCULAR SURGERY; CHROMOSOME 21; CHROMOSOME 22Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CLINICAL TRIAL; CONGENITAL HEART MALFORMATION; DOWN SYNDROME; DRUG EFFECT; ELECTROCARDIOGRAM; FALLOT TETRALOGY; GENE MUTATION; GENETIC COUNSELING; GENETIC DISORDER; HEALTH CARE NEED; HEALTH CARE PERSONNEL; HOLT ORAM SYNDROME; HUMAN; HYPERTENSION; MARFAN SYNDROME; MEDICAL INFORMATION; NONHUMAN; NOONAN SYNDROME; OUTCOME ASSESSMENT; PHENOTYPE; PRACTICE GUIDELINE; PREGNANCY; PRIMARY MEDICAL CARE; PULMONARY VALVE STENOSIS; RENDU OSLER WEBER DISEASE; REPRODUCTION; REVIEW; SURVIVAL RATE; TURNER SYNDROME; WILLIAMS BEUREN SYNDROME; X CHROMOSOME; ADULT; CARDIOVASCULAR MALFORMATION; CHROMOSOME 22; FEMALE; GENETICS; MALE; PATHOLOGY; SYNDROME;

ADULT; CARDIOVASCULAR ABNORMALITIES; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 22; DOWN SYNDROME; FEMALE; GENETIC COUNSELING; GENETIC DISEASES, INBORN; HUMANS; MALE; PREGNANCY; REPRODUCTION; SYNDROME;

EID: 52049116340     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181772111     Document Type: Review

References (280)

1. Pierpont ME, Basson CT, Benson DW, et al. The genetic basis for congenital heart defects: current knowledge. A scientific statement from the American Heart Association Council on cardiovascular disease in the young. Endorsed by the American Academy of Pediatrics. Circulation 2007;115:3015-3058.
2. Goldmuntz E, Lin AE. Genetics of congenital heart defects. In: Allen HD, Driscoll DJ, Shaddy RE, Feltes TF, editors. Moss and Adams' Heart disease in infants, children, and adolescents, including the fetus and young adult, 7th ed. Philadelphia: Lippincott Williams & Wilkins, 2008:545-572.
3. Brickner ME, Hillis LD, Lange RA. Congenital heart disease in adults. First of two parts. N Engl J Med 2000;342:256-263.
4. Brickner ME, Hillis LD, Lange RA. Congenital heart disease in adults. Second of two parts. N Engl J Med 2000;342:334-342.
5. Foster E, Graham TP, Driscoll DJ, et al. Task Force 2: special health care needs of adults with congenital heart disease. J Am Coll Cardiol 2001;37:1176-1183.
6. Siu SC, Sermer M, Colman JM, et al. Prospective multicenter study of pregnancy outcomes in women with heart disease. Circulation 2001;104:515-521.
7. Khairy P, Ouyang DW, Fernandes SM, et al. Pregnancy outcomes in women with congenital heart disease. Circulation 2006;113:517-524.
8. Avila WS, Rossi EG, Ramires JA, et al. Pregnancy in patients with heart disease: experience with 1,000 cases. Clin Cardiol 2003;26:135-142.
9. Williams RG, Pearson GD, Barst RJ, et al. Report of the National heart, lung, and blood institute working group on research in adult congenital heart disease. J Am Coll Cardiol 2006;47:701-707.
10. Rimoin DL, Connor JM, Pyeritz RE, Korf BR. Nature and frequency of genetic disease. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, editors. Emery and Rimoin's principle and practice of medical genetics, Vol. 1, 4th ed. New York: Churchill Livingstone, 2002:55-59.
11. Williams MS. Introduction: adult dysmorphology: perspectives on approach to diagnosis and care. Am J Med Genet C Semin Med Genet 2007;145C:227-229.
12. Schrander-Strumpel CT, Sinnema M, Van Den Hout L, Maaskant MA, Healthcare transition in persons with intellectual disabilities: general issues, the Masstricht model, and Prader-Willi model. Am J Med Genet C Semin Med Genet 2007;145C:241-247.
13. Ferencz C, Rubin JD, Loffredo CA, Magee CA. Epidemiology of congenital heart disease: the Baltimore-Washington infant study: 1981-1989. Armonk, NY: Futura Publishing Company, Inc., 1993.
14. Botto L, Goldmuntz E, Lin AE. Epidemiology and prevention of congenital heart defects. In: Allen HD, Driscoll DJ, Shaddy RE, Feltes TF, editors. Moss and Adams' Heart disease in infants, children, and adolescents, including the fetus and young adult, 7th ed. Philadelphia: Lippincott Williams &. Wilkins, 2008:524-545.
15. Bondy CA, Writing for the Turner Syndrome Consensus Group. Clinical practice guideline. Care of girls and women with turner syndrome: a guideline of the turner syndrome study group. J Clin Endocrinol Metab 2007;92:10-25.
16. Pyeritz RE. Maternal and fetal complications of pregnancy in the Marfan syndrome. Am J Med 1991;71:784-790.
17. Classifying recommendations for clinical practice guidelines. Pediatrics 2004;114: 874-877.
18. The Criteria Committee of the New York Heart Association. Nomenclature and criteria for diagnosis of diseases of the heart and great vessels, 9th ed. Boston, Mass: Little, Brown & Co, 1994:253-256.
19. Wilson W, Taubert KA, Gewitz M, et al. Prevention of infective endocarditis. Guidelines from the American Heart Association. A guideline from the American Heart Association rheumatic fever, endocarditis, and kawasaki disease committee, council on cardiovascular disease in the young, and the council on clinical cardiology, council on cardiovascular surgery and anesthesia, and the quality of care and outcomes research interdisciplinary working group. Circulation 2007;116:1736-1754.
20. Devriendt K, Fryns JP, Mortier G, et al. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet 1998;35:789-790.
21. Goodship J, Cross I, LiLing J, Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 1998;79:348-351.
22. Botto LD, May K, Fernhoff PM, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 2003;112:101-107.
23. Wilson DI, Burn J, Scambler P, Goodship J. DiGeorge syndrome: part of CATCH 22. J Med Genet 1993;30:852-856.
24. Oskarsdottir S. The 22q11 deletion syndrome, A clinical and epidemiological study. Goteborg, Sweden: Itellecta DocusysAB, Vastra Frolunda, 2005:1-183.
25. Driscoll DA, Spinner NB, Budarf ML, et al. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet 1992;44:261-268.
26. Scambler PJ, Kelly D, Lindsay E, et al. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet 1992;339: 1138-1139.
27. Burn J, Takao A, Wilson D, et al. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet 1993;30:822-824.
28. McDonald-McGinn DM, Driscoll DA, Bason L, et al. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet 1995;59:103-113.
29. Lacassie Y, Arriaza MI. Opitz GBBB syndrome and the 22q11.2 deletion. Am J Med Genet 1996;62:318.
30. Fryburg JS, Lin KY, Golden WL. Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome. Am J Med Genet 1996;62:274-275.
31. Giannotti A, Digilio MC, Marino B, et al. Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype. Am J Med Genet 1994;53:303-304.
32. McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 2001;3:23-29.
33. Ben-Shachar S, Ou Z, Shaw CA, et al. 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet 2008;82:214-221.
34. McDonald-McGinn DM, Kirschner R, Goldmuntz E, et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 1999;10:11-24.
35. Bassett AS, Hodgkinson K, Chow EW, et al. 22q11 deletion syndrome in adults with schizophrenia. Am J Med Genet 1998;81:328-337.
36. Bassett AS, Chow EW, Husted J, et al. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet A 2005;138:307-313.
37. Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997;34:798-804.
38. Cohen E, Chow EW, Weksberg R, Bassett AS. Phenotype of adults with the 22q11 deletion syndrome: a review. Am J Med Genet 1999;86:359-365.
39. Shooner KA, Rope AF, Hopkin RJ, et al. Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations. J Pediatr 2005;146:382-387.
40. Goldmuntz E, Clark BJ, Mitchell LE, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 1998;32:492-498.
41. Menahem S, Rahayoe AU, Brawn WJ, Mee RB. Interrupted aortic arch in infancy: a 10-year experience. Pediatr Cardiol 1992;13:214-221.
42. Marino B, Digilio MC, Toscano A, et al. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med 2001;3:45-48.
43. McElhinney DB, Clark BJ III, Weinberg PM, et al. Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol 2001;37:2114-2119.
44. Carotti A, Marino B, Di Donato RM. Influence of chromosome 22q11.2 microdeletion on surgical outcome after treatment of tetralogy of fallot with pulmonary atresia. J Thorac Cardiovasc Surg 2003;126:1666-1667.
45. Mahle WT, Crisalli J, Coleman K, et al. Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect. Ann Thorac Surg 2003;76:567-571.
46. Anaclerio S, Di Ciommo V, Michielon G, et al. Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality. Ital Heart J 2004;5:624-628.
47. Michielon G, Marino B, Formigani R, et al. Genetic syndromes and outcome after surgical correction of tetralogy of fallot. Ann Thorac Surg 2006;81:968-975.
48. Gatzoulis MA, Balaji S, Webber SA, et al. Risk factors for arrhythmia and sudden cardiac death late after repair of tetralogy of fallot: a multicentre study. Lancet 2000;356:975-981.
49. Hokanson JS, Pierpont ME, Hirsch B, Moller JH. 22q11.2 microdeletions in adults with familial tetralogy of fallot. Genet Med 2001;3:61-64.
50. Beauchesne LM, Warnes CA, Connolly HM, et al. Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies. J Am Coll Cardiol 2005;45:595-598.
51. Jacobs ML, Chin AJ, Rychik J, et al. Interrupted aortic arch. Impact of subaortic stenosis on management and outcome. Circulation 1995;92:128-131.
52. Dittrich S, Vogel M, Dahnert I, et al. Surgical repair of tetralogy of fallot in adults today. Clin Cardiol 1999;22:460-464.
53. Harrison DA, Siu SC, Hussain F, et al. Sustained atrial arrhythmias in adults late after repair of tetralogy of fallot. Am J Cardiol 2001;87:584-588.
54. McDonald-McGinn DM, Driscoll DA, Saitta S, et al. Guidelines for prenatal detection of the 22q11.2 deletion. Am J Hum Genet 2002;71:198(A173).
55. McDonald-McGinn DM, Driscoll DA, Zackai EH. Guidelines for the prenatal detection of the 22q11.2 deletion syndrome. Proc Greenwood Genet Center 2007;26: 155.
56. Centers for Disease Control and Prevention. Improved national prevalence estimates for 18 selected major birth defects-United States, 1999-2001. MMWR 2005; 54:1301-1305.
57. Wessels MW, Los FJ, Frohn-Mulder IME, et al. Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation. Am J Med Genet 2003;116A: 147-151.
58. Yang Q, Rasmussen SA, Friedman JM. Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study. Lancet 2002;359:1019-1025.
59. Bittles AH, Glasson EJ. Clinical, social and ethical implications of changing life expectancy in Down syndrome. Dev Med Child Neurol 2004;46:282-286.
60. Hunter AGW. Down syndrome. In: Cassidy SB, Allanson JE, editors. Management of genetic syndromes, 2nd ed. Hoboken: John Wiley and Sons, 2004:191-210.
61. Freeman SB, Taft LF, Dooley KJ, et al. Population-based study of congenital heart defects in Down syndrome. Am J Med Genet 1998;80:213-217.
62. McElhinney DB, Straka M, Goldmuntz E, Zackai EH. Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome. Am J Med Genet 2002;113:238-241.
63. Cetta F, Minich LL, Edwards WD, et al. Atrioventricular septal defects. In: Allen HD, Driscoll DJ, Shaddy RE, Feltes TF, editors. Moss and Adams Heart disease in infants, children, and adolescents, including the fetus and young adult, 7th ed. Philadelphia: Lippincott Williams & Wilkins, 2008:646-667.
64. Reller MD, Morris CD. Is Down syndrome a risk factor for poor outcome after repair of congenital heart defects? J Pediatr 1998;132:738-741.
65. Marino B, Diociaiuti L, Calcagni G, Mastroiacovo P. Outcome in Down syndrome fetuses with cardiac anomalies. Am J Med Genet 2004;128A:101-102.
66. American Academy of Pediatrics, Committee on Genetic. Health supervision for children with Down syndrome. Pediatrics 2001;107:442-449.
67. Roizen NJ, Patterson D. Down's syndrome. Lancet 2003;361:1281-1289.
68. Goldhaber SZ, Rubin IL, Brown W, et al. Valvular heart disease (Aortic regurgitation and mitral valve prolapse) among institutionalized adults with Down's syndrome. Am J Cardiol 1986;57:278-281.
69. Geggel RL, O'Brien JE, Feingold M. Development of valve dysfunction in adolescents and young adults with Down syndrome and no known congenital heart disease. J Pediatr 1993;122:821-823.
70. Hamada T, Gejyo F, Koshino Y, et al. Echocardiographic evaluation of cardiac valvular abnormalities in adults with Down's syndrome. Tohoku J Exp Med 1998; 185:31-35.
71. Marino B, Digilio MC. Health supervision for children with Down syndrome [letter]. Pediatrics 2001;108:1384-1385.
72. Feingold M, Geggel RL, Marino B, et al. Health supervision for children with Down syndrome [letters and reply]. Pediatrics 2001;108:1384-1385.
73. Smith DS. Health care management of adults with Down syndrome. Am Fam Pract 2001;64:1031-1038.
74. Nowak CB, Feingold M. Cardiac status in Down syndrome adults. Poster presented at the American College of Medical Genetics. Nashville, TN, March 22, 2007.
75. Murdoch JC, Rodger JC, Rao SS, et al. Down's syndrome: an atheroma-free model? BMJ 1971;2:223-228.
76. Pueschel SM, Craig WY, Haddow JE. Lipids and lipoproteins in persons with Down's syndrome. J Intellect Disabil Res 1992;36:365-369.
77. Hopkins WE, Fukagawa NK, Sobel BE, Schneider DJ. Plasminogen activator inhibitor type 1 in adults with Down syndrome and protection against macrovascular disease. Am J Cardiol 2000;85:784-786.
78. Bovicelli L, Orsini LF, Rizzo N, et al. Reproduction in Down syndrome. Obstet Gynecol 1982;59:13S-17S.
79. Shobha Rani A, Jyothi A, Reddy PP, Reddy OS. Reproduction in Down's syndrome. Int J Gynaecol Obstet 1990;31:81-86.
80. Mullins DH, Estrada WR, Gready TG. Pregnancy in an adult mongoloid female. Obstet Gynecol 1960;15:781.
81. Nielsen J, Wohlert M. Sex chromosome abnormalities found among 34,910 new-born children: results from a 13-year incidence study in Arhus, Denmark. Birth Defects Orig Artic Ser 1990;26:209-223.
82. Stochholm K, Juul S, Juel K, Naera RW, Gravholt CH. Prevalence, incidence, diagnostic delay and mortality in Turner syndrome. J Clin Endocrinol Metab 2006; 91:3897-3902.
83. Sybert VP, McCauley E. Turner's syndrome. N Engl J Med 2004;351:1227-1238.
84. Lacro RV, Jones KL, Benirschke K. Coarctation of the aorta in Turner syndrome: a pathologic study of fetuses with nuchal cystic hygromas, hydrops fetalis, and female genitalia. Pediatrics 1988;81:445-451.
85. Loscalzo ML, Van PL, Ho VB, et al. Association between fetal lymphedema and congenital cardiovascular defects in Turner syndrome. Pediatrics 2005;115:732-735.
86. Mazzanti L, Cacciari E. Congenital heart disease in patients with Turner's syndrome. Italian Study Group for Turner Syndrome (ISGTS). J Pediatr 1998;133: 688-692.
87. Sybert VP. Cardiovascular malformations and complications in Turner syndrome. Pediatrics 1998;101:e11.
88. Ho VB, Bakalov VK, Cooley M, et al. Major vascular anomalies in Turner syndrome. Prevalence and magnetic resonance angiographic features. Circulation 2004;110:1694-1700.
89. Bechtold SM, Dalla Pozza R, Becker A, et al. Partial anomalous pulmonary vein connection: an underestimated cardiovascular defect in Ullrich-Turner syndrome. Eur J Pediatr 2004;163:158-162.
90. Bondy CA, Ceniceros I, Van PL, et al. Prolonged rate-corrected QT interval and other electrocardiogram abnormalities in girls with Turner syndrome. Pediatrics 2006;118:e1220-e1225.
91. Cecconi M, Nistri S, Quarti A, et al. Aortic dilatation in patients with bicuspid aortic valve. J Cardiovasc Med 2006;7:11-20.
92. Lin AE, Lippe B, Rosenthal R. Further delineation of aortic dilation, dissection and rupture in patients with Turner syndrome. Pediatrics 1998;102:e12. Available at: http://www.pediatrics.org.cgi/content/full/102/1/ e12. Accessed June 10, 2008.
93. Elsheikh M, Casadei B, Conway GS, Wass JA. Hypertension is a major risk factor for aortic root dilatation in women with Turner's syndrome. Clin Endocrinol (Oxf) 2001;54:69-73.
94. Ostberg JE, Brookes JAS, McCarthy C, et al. A comparison of echocardiography and magnetic resonance imaging in cardiovascular screening of adults with Turner syndrome. J Clin Endocrinol Metab 2004;80:5966-5971.
95. Matura LA, Ho VB, Rosing DR, Bondy CA. Aortic dilatation and dissection in Turner syndrome. Circulation 2007;116:1663-1670.
96. Carlson M, Silberbach M. Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature. J Med Genet 2007;44:745-749.
97. Ostberg JE, Donald AE, Halcox JP, et al. Vasculopathy in Turner syndrome: arterial dilatation and intimai thickening without endothelial dysfunction. J Clin Endocrinol Metab 2005;90:5161-5166.
98. Lopez L, Arheart KL, Colan SD, et al. Turner syndrome is an independent risk factor for aortic dilation in the young. Pediatrics 2008;121:e1622-e1627.
99. Gravholt CH, Landin-Wilhelmsen K, Stochholm K, et al. Clinical and epidemiological description of aortic dissection in Turner syndrome. Cardiol Young 2006; 16:1-7.
100. Bondy CA, van PL, Bakalov VK, Ho VB. Growth hormone treatment and aortic dimensions in Turner syndrome. J Clin Endocrinol Metab 2006;91:1785-1788.
101. van den Berg J, Bannink EM, Wielopolski PA, Pattynama PM, de Muinck Keizer-Schrama SM, Helbing WA. Aortic distensibility and dimensions and the effects of growth hormone treatment in the Turner syndrome. Am J Cardiol 2006;97:1644-1649.
102. Matura LA, Sachdev V, Bakalov V, Rosing DR, Bondy CA. Growth hormone treatment and left ventricular dimensions in Turner syndrome. J Pediatr 2007;150:587-591.
103. Gravholt CH, Hansen KW, Erlandsen M, et al. Nocturnal hypertension and impaired sympathovagal tone in Turner syndrome. J Hypertens 2006;24:353-360.
104. Bondy CA, Van PK, Bakalov VK, et al. Prolongation of the cardiac QTc interval in Turner syndrome. Medicine 2006;85:1-7.
105. Cooley M, Bakalov V, Bondy CA. Lipid profiles in women with 45,X vs 46,XX primary ovarian failure. JAMA 2003;290:2127-2128.
106. Van PL, Bakalov VK, Bondy CA. Monosomy for the X chromosome is associated with an atherogenic lipid profile. J Clin Endocrinol Metab 2006;91:2867-2870.
107. Aligeti C, Horn HR. Turner's syndrome and coronary artery disease. Am J Cardiol 2007;99:741-742.
108. Lin AE, Silberbach M. Focus on the heart and aorta in Turner syndrome. J Pediatr 2007;150:572-574.
109. Karnis MF, Zimon AE, Lalwani SI, et al. Risk of death in pregnancy achieved through oocyte donation in patients with Turner syndrome: a national survey. Fertil Steril 2001;80:498-501.
110. Mendelson MA. Pregnancy in patients with obstructive lesions: aortic stenosis, coarctation of the aorta and mitral stenosis. Prog Pediatr Cardiol 2004;19:61-70.
111. Van Voorhis BJ. In vitro fertilization. N Engl J Med 2007;356:379-386.
112. Cherniske EM, Carpenter TO, Klaiman C, et al. Multisystem study of 20 older adults with Williams syndrome. Am J Med Genet A 2004;131:255-264.
113. Morris CA, Thomas IT, Greenberg F. Williams syndrome: autosomal dominant inheritance. Am J Med Genet 1993;47:478-481.
114. Morris CA, Demsey SA, Leonard CO, et al. Natural history of Williams syndrome: physical characteristics. J Pediatr 1988;113:318-326.
115. Mervis CB, Robinson BF, Bertrand J, et al. The Williams syndrome cognitive profile. Brain Cogn 2000;44:604-628.
116. Klein-Tasman BP, Risi S, Lord CE. Socio-communicative deficits in young children with Williams syndrome: performance on the autism diagnostic observation schedule. Child Neuropsychol 2007;13:444-467.
117. Mervis CB. Williams syndrome: 15 years of psychological research. Dev Neuropsychol 2003;23:1-12.
118. Stromme P, Bjornstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol 2002;17:269-271.
119. Osborne LR. The molecular basis of a multisystem disorder. In: Morris CA, Lenhoff HM, Wang PP, editors. Williams-Beuren syndrome: research, evaluation, and treatment, 1st ed. Baltimore: Johns Hopkins University Press, 2006:18-58.
120. Eronen M, Peippo M, Hiippala A, et al. Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet 2002;39:554-558.
121. Bird LM, Billman GF, Lacro RV, et al. Sudden death in Williams syndrome: report often cases. J Pediatr 1996;129:926-931.
122. Ardinger RH Jr, Goertz KK, Mattioli LF. Cerebrovascular stenoses with cerebral infarction in a child with Williams syndrome. Am J Med Genet 1994;51:200-202.
123. Kaplan P. The medical management of children with Williams-Beuren syndrome. In: Morris CA, Lenhoff HM, Wang PP, editors. Williams-Beuren syndrome: research, evaluation, and treatment, 1st ed. Baltimore: Johns Hopkins University Press, 2006:83-106.
124. Kaplan P, Levinson M, Kaplan BS. Cerebral artery stenoses in Williams syndrome cause strokes in childhood. J Pediatr 1995;126:943-945.
125. Soper R, Chaloupka JC, Fayad PB, et al. Ischemic stroke and intracranial multifocal cerebral arteriopathy in Williams syndrome. J Pediatr 1995;126:945-948.
126. Scheiber D, Fekete G, Urban Z, et al. Echocardiographic findings in patients with Williams-Beuren syndrome. Wien Klin Wochenschr 2006;118:538-554.
127. Kececioglu D, Kotthoff S, Vogt J. Williams-Beuren syndrome: a 30-year follow-up of natural and postoperative course. Eur Heart J 1993;14:1458-1464.
128. Stamm C, Friehs I, Ho SY, et al. Congenital supravalvar aortic stenosis: a simple lesion? Eur J Cardiothorac Surg 2001;19:195-202.
129. Morris CA, Leonard CO, Dilts C, Demsey SA. Adults with Williams syndrome. Am J Med Genet Suppl 1990;6:102-107.
130. French JW, Guntheroth WG. An explanation of asymmetric upper extremity blood pressures in supravalvular aortic stenosis: the Coanda effect. Circulation 1970;42: 31-36.
131. Kawai M, Nishikawa T, Tanaka M, et al. An autopsied case of Williams syndrome complicated by moyamoya disease. Acta Paediatr Jpn 1993;35:63-67.
132. Wollack JB, Kaifer M, LaMonte MP, Rothman M. Stroke in Williams syndrome. Stroke 1996;27:143-146.
133. Wessel A, Gravenhorst V, Buchhorn R, et al. Risk of sudden death in the Williams-Beuren syndrome. Am J Med Genet A 2004;127:234-237.
134. Giordano U, Turchetta A, Giannotti A, et al. Exercise testing and 24-hour ambulatory blood pressure monitoring in children with Williams syndrome. Pediatr Cardiol 2001;22:509-511.
135. Mulik VV, Templeston KI, Howe DT. Two pregnancies in a woman with Williams syndrome. Br J Obstet Gynecol 2004;111:511-512.
136. van der Tuuk KV, Drenthen W, Moons P, Budts W. Three live-birth pregnancies in a woman with Williams syndrome. Congenit Heart Dis 2007;2:139-142.
137. Pyeritz RE. Marfan syndrome and related disorders. In: Rimoin DL, Conner JM, Pyeritz RE, Korf BR, editors. Principles and practice of medical genetics, 5th ed. Philadelphia: Churchill Livingstone, 2007:3579-3624.
138. DePaepe A, Deitz HC, Devereux RB, et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996;62:417-426.
139. Chow K, Litt HI, Pyeritz RE. Abdominal visceral findings in the Marfan syndrome. Genet Med 2007;9:208-212.
140. Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003; 33:407-411.
141. Ng CM, Cheng A, Myers LA, et al. TGF-beta-dependent pathogenesis of mitral valve-prolapse in a mouse model of Marfan syndrome. J Clin Invest 2004;114: 1586-1592.
142. Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006;312:117-121.
143. McKusick VA. The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue. Circulation 1955;11:321-341.
144. Morse RP, Rockenmacher S, Pyeritz RE, et al. Diagnosis and management of Marfan syndrome in infants. Pediatrics 1990;86:888-895.
145. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005;37:275-281.
146. Sisk HE, Zahka KG, Pyeritz RE. The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than four years of age. Am J Cardiol 1983;52:353-358.
147. Roman MJ, Devereux RB, Kramer-Fox R, O'Loughlin J. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol 1989;64:507-512.
148. Salim MA, Alpert BS, Ward JC, Pyeritz RE. Effect of beta-adrenergic blockade on aortic root rate of dilation in the Marfan syndrome. Am J Cardiol 1994;74:629-633.
149. Shores J, Berger KR, Murphy EA, Pyeritz RE. Chronic β-adrenergic blockade protects the aorta in the Marfan syndrome: a prospective, randomized trial of propranolol. N Engl J Med 1994;330:1335-1341.
150. Murdoch JL, Walker BA, Halpern BL, et al. Life expectancy and causes of death in the Marfan syndrome. N Engl J Med 1972;286:804-808.
151. Gott VL, Greene PS, Alejo DE, et al. Surgery for ascending aortic disease in Marfan patients: a multi-center study. N Engl J Med 1999;340:1307-1313.
152. Silverman DI, Burton KJ, Gray J, et al. Life expectancy in the Marfan syndrome. Am J Cardiol 1995;75:157-160.
153. Miller DC. Valve-sparing aortic root replacement in patients with the Marfan syndrome. J Thorac Cardiovasc Surg 2003;125:773-778.
154. David TE, Feindel CM, Webb GD, et al. Aortic valve preservation in patients with aortic root aneurysm: results of the reimplantation technique. Ann Thorac Surg 2007;83:S732-S735.
155. Lacro RV, Dietz H, Wruck L, et al. Rationale and design of a randomized clinical trial of β-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. Am Heart J 2007;1544:624-631.
156. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in TGF-β receptor. N Engl J Med 2006;355:788-798.
157. Rossiter JP, Repke JT, Morales AJ, et al. A prospective longitudinal evaluation of pregnancy in the Marfan syndrome. Am J Obstet Gynecol 1995;173:1599-1606.
158. Pannu H, Fadulu VT, Chang J, et al. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation 2005;112:513-520.
159. Mizuguchi T, Collod-Beroud G, Akiyama T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 2004;36:855-860.
160. Sakai H, Visser R, Ikegawa S, et al. Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome and Marfan-related phenotypes. Am J Med Genet A 2006;140:1719-1725.
161. Adès LC, Sullivan K, Biggin A. FBN1, TGFBR1, and the Marfan-craniosynostosis/ mental retardation disorders revisited. Am J Med Genet A 2006;140:1047-1058.
162. Viassolo V, Lituania M, Marasini M, et al. Fetal aortic root dilation: a prenatal feature of the Loeys-Dietz syndrome. Prenat Diagn 2006;26:1081-1083.
163. Johnson PT, Chen JK, Loeys BL, et al. Loeys-Dietz syndrome: MDCT angiography findings. AJR Am J Roentgenol 2007;189:W29-W35.
164. LeMaire SA, Pannu H, Tran-Fadulu V, et al. Severe aortic and arterial aneurysms associated with a TGFBR2 mutation. Nat Clin Pract Cardiovasc Med 2007;4:167-171.
165. 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:S757-S763.
166. Guttmacher A, Marchuck D, Pyeritz RE. Hereditary hemorrhagic telangiectasia. In: Rimoin DL, Conner JM, Pyeritz RE, Korf BR, editors. Principles and practice of medical genetics, 5th ed. Philadelphia: Churchill Livingstone, 2007:1200-1213.
167. Bossler AD, Richards J, George C, et al. A Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. Hum Mutat 2006;27:667-675.
168. Gallione CJ, Richards JA, Letteboer TGW, et al. SMAD4 mutations found in unselected HHT patients. Eur J Hum Genet 2006;43:793-797.
169. Curie A, Lesca G, Cottin V, et al. Long-term follow-up in 12 children with pulmonary arteriovenous malformations: confirmation of hereditary hemorrhagic telangiectasia in all cases. J Pediatr 2007;151:299-306.
170. Pollack JS, Saluja S, Thabet A, et al. Clinical and anatomic outcomes after embolotherapy of pulmonary arteriovenous malformations. J Vasc Interv Radiol 2006; 17:35-45.
171. Wu JS, Saluja S, Garcia-Tsao G, et al. Liver involvement in hereditary hemorrhagic telangiectasia: CT and clinical findings do not correlate in symptomatic patients. Am J Radiol 2006;187:W399-W405.
172. Garcia-Tsao G. Liver involvement in hereditary hemorrhagic telangiectasia (HHT). J Hepatol 2007;46:499-507.
173. Lerut J, Orlando G, Adam R, et al. Liver transplantation or hereditary hemorrhagic telangiectasia. Ann Surg 2006;244:854-862.
174. Longacre AV, Gross CP, Gallitelli M, et al. Diagnosis and management of gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia. Am J Gastroenterol 2003;98:59-65.
175. Gershon AS, Faughnan ME, Chon KS, et al. Transcatheter embolotherapy of maternal pulmonary arteriovenous malformations during pregnancy. Chest 2001;119: 470-477.
176. McDermott DA, Bressan MC, He J, et al. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res 2005;58:981-986.
177. Csaba E, Marta V, Endre C. Holt-Oram syndrome. Orv Hetil 1991;132:73-78.
178. Li QY, Newbury-Ecob RA, Terrett JA, et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet 1997; 15:21-29.
179. Varma PK, Padmakumar R, Harikrishnan S, et al. Holt-Oram syndrome with hemiazygous continuation of the inferior vena cava. Asian Cardiovasc Thorac Ann 2002;14:161-163.
180. Vaughan CJ, Basson CT. Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus. Am J Med Genet 2000;97:304-309.
181. Basson CT, Cowley GS, Solomon SD, et al. The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome). N Engl J Med 1994;330:885-891.
182. Basson CT, Bachinsky DR, Lin RC, et al. Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet 1997;15:30-35.
183. Basson CT, Huang T, Lin RC, et al. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc Natl Acad Sci USA 1999;96: 2919-2924.
184. Muller LM, De Jong G, Van Heerden KM. The antenatal ultrasonographic detection of the Holt-Oram syndrome. S Afr Med J 1985;68:313-315.
185. Tongsong T, Chanprapaph P. Prenatal sonographic diagnosis of Holt-Oram syndrome. J Clin Ultrasound 2000;28:98-100.
186. Porter CJ, Feldt RH, Edwards WD. Atrial septal defects. In: Allen HD, Driscoll DJ, Shaddy RE, Feltes TF, editors. Moss and Adams Heart disease in infants, children, and adolescents, including the fetus and young adult, 7th ed. Philadelphia: Lippincott Williams & Wilkins, 2008:632-646.
187. McDaniel NL, Gutgesell HP. Ventricular septal defects. In: Allen HD, Driscoll DJ, Shaddy RE, Feltes TF, editors. Moss and Adams Heart disease in infants, children, and adolescents including the fetus and young adult,7th ed. Philadelphia: Lippincott Williams & Wilkins, 2008:667-683.
188. Rigby ML. Atrial septal defects. In: Gatzoulis MA, Webb GP, Daubeney PEP, editors. Diagnosis and management of adult congenital heart disease. Edinburgh, Scotland: Churchill Livingston, 2003:163-178.
189. Hatcher CJ, Basson CT. Holt-Oram syndrome and the TBX5 transcription factor in cardiogenesis. In: Berul CI, Towbin JA, editors. Molecular genetics of cardiac electrophysiology, Boston: Kluwer Academic Publisher, 2000:297-315.
190. Tucker KJ, Murphy J, Conti JB, Curtis AB. Syncope and sinus arrest associated with upper limb-cardiovascular (Holt-Oram) syndrome. Pacing Clin Electrophysiol 1994;17:1678-1680.
191. Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine, phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001; 29:465-468.
192. Zenker M, Buheitel G, Rauch R, et al. Genotype-phenotype correlations in Noonan syndrome. J Pediatr 2004;144:368-374.
193. Jongmans M, Sistermans EA, Rikken A, et al. Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. Am J Med Genet A 2005;134:165-170.
194. Schubbert S, Zenker M, Rowe SL, et al. KRAS mutations cause Noonan syndrome. Nat Genet 2006;38:331-336.
195. Carta C, Pantaleoni F, Bocchinfuso G, et al. Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet 2006;9:129-135.
196. Zenker M, Lehmann K, Schulz AL, et al. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet 2007;44: 131-135.
197. Roberts AE, Araki T, Swanson KD, et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 2007;39:70-74.
198. Tartaglia M, Pennacchio LA, Zhao C, et al. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 2007;39:75-79.
199. Pandit B, Sarkozy A, Pennacchio LA, et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 2007;39:1007-1012.
200. Razzaque MA, Nishizawa T, Komoike Y, et al. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 2007;39:1013-1017.
201. Sarkozy A, Conti E, Seripa D, et al. Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet 2003;40:704-708.
202. Keren B, Hadchouel A, Saba S, et al. For the French Collaborative Noonan Study Group. PTPN11 mutations in patients with LEOPARD syndrome:a French multicentric experience. J Med Genet 2004;41:e117.
203. Noonan JA. Noonan syndrome and related disorders. Prog Pediatr Cardiol 2005; 20:177-185.
204. Noonan JA. Noonan Syndrome. In: Goldstein-Reynolds, editor. Handbook of neurodevelopmental and genetic disorders in adults. New York, London: The Gilford Press, 2005:308-319. Chap. 15.
205. Digilio MC, Marino B. Clinical manifestations of Noonan syndrome. Images Paediatr Cardiol 2001;7:19-30.
206. Allanson JE. Noonan syndrome. Am J Med Genet C Semin Med Genet 2007;145C: 274-279.
207. Sharland M, Burch M, McKenna WM, Patton MA. A clinical study of Noonan syndrome. Arch Dis Child 1992;67:178-183.
208. Burch M, Sharland M, Shinebourne E, et al. Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol 1993;22:1189-1192.
209. Marino B, Digilio MC, Toscano A, et al. Congenital heart disease in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 1999;135:703-706.
210. Sznajer Y, Keren B, Baumann C, et al. The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. Pediatrics 2007; 119:e1325-e1331.
211. Hirsch HD, Gelband H, Garcia O, et al. Rapidly progressive obstructive cardiomyopathy in infants with Noonan's syndrome. Circulation 1975;52:1161-1165.
212. Danetz JS, Donofrio MT, Embrey RP. Multiple left-sided cardiac lesions in one of Noonan's original patients. Cardiol Young 1999;9:610-612.
213. Shaw AC, Kalidas K, Crosby AH, et al. The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child 2006;92:128-132.
214. Spirito P, Seidman CE, McKenna WJ, Maron BJ. The management of hypertrophic cardiomyopathy. N Engl J Med 1997;336:775-785.
215. Ostman-Smith I, Wettrell G, Riesenfeld R. A cohort study of childhood hypertrophic cardiomyopathy. Improved survival following high-dose beta-adrenoreceptor antagonist treatment. J Am Coll Cardiol 1999;34:1813-1833.
216. Carter JE, Feldman T, Carroll JD. Sustained reversal of right-to-left atrial septal defect flow after pulmonic valvuloplasty in an adult. Eur Heart J 1994;15:575-576.
217. Zanchetta M, Colonna S, Rigatelli G, et al. Combined catheter-based pulmonary valvuloplasty and atrial septal defect closure in Noonan syndrome. Minerva Cardioangiol 2002;50:383-388.
218. Loukas M, Dabrowski M, Kantoch M, et al. A case report of Noonan's syndrome with pulmonary valvar stenosis and coronary aneurysms. Med Sci Monit 2004;10: CS80-CS83.
219. Schacter N, Perloff JK, Mulder DG. Aortic dissection in Noonan's syndrome (46 XY). Am J Cardiol 1984;54:464-465.
220. Morgan JM, Coupe MO, Honey M, Miller GAH. Aneurysms of the sinuses of Valsalva in Noonan's syndrome. Eur Heart J 1989;10:190-193.
221. Purnell R, Williams I, Von Oppell U, Wood A. Giant aneurysms of the sinuses of Valsalva and aortic regurgitation in a patient with Noonan's syndrome. Eur J Cardiothorac Surg 2005;28:346-348.
222. Power PD, Lewin MB, Hannibal MA, Glass IA. Aortic dilatation is a rare complication of Noonan Syndrome. Pediatr Cardiol 2006;27:478-480.
223. Doyama K, Hirose K, Fujiwara H. Asymmetric septal hypertrophy in a 41-year-old woman with Noonan's syndrome. Chest 1990;97:1480-1481.
224. Shimizu A, Oku Y, Matsuo K, Hashiba K. Hypertrophic cardiomyopathy progressing to a dilated cardiomyopathy-like feature in Noonan's syndrome. Am Heart J 1992;123:814-816.
225. Hayashi S, Tojyo K, Uchikawa S, et al. Biventricular hypertrophic cardiomyopathy with right ventricular outflow tract obstruction associated with Noonan syndrome in an adult. Jpn Circ J 2001;65:132-135.
226. Wilmshurst PT, Katritsis D. Restrictive and hypertrophic cardiomyopathies in Noonan syndrome: the overlap syndromes. Heart 1996;75:94-97.
227. Cooke RA, Chambers JB, Curry PVL. Noonan's cardiomyopathy: a non-hypertrophic variant. Br Heart J 1994;71:561-565.
228. O'Sullivan T, Hally M, Cronin CC, et al. Constrictive pericarditis in a patient with the Noonan syndrome. Ir J Med Sci 1993;162:180-181.
229. Okahata H, Nishi Y, Yoshimitsu H, Tanimoto T, Usui T. A case of Noonan's with primary hypertension. Hiroshima J Med Sci 1982;31:27-29.
230. Tinker A, Uren N, Schofield J. Severe pulmonary hypertension in Ullrich-Noonan syndrome. Br Heart J 1989;62:74-77.
231. Huff DS, Zackai EH. Fatal pulmonary hypertension in a 17 year old girl with Noonan's syndrome: a third case. Proc Greenwood Genet Cent 2004;23:153.
232. Cullimore AJ, Smedstad KG, Brennan BG. Pregnancy in women with Noonan syndrome:report of two cases. Obstet Gynecol 1999;93:813-816.
233. Yadav BS, Indurkar M, Bisarya BN. Normal pregnancy in a case of Noonan syndrome with hypertrophic cardiomyopathy. J Assoc Physicians India 1996;44:494-495.
234. Joo JG, Beke A, Toth-Pal E, et al. Successful pregnancy in a Noonan syndrome patient after 3 unsuccessful pregnancies from severe fetal hydrops:a case report. J Reprod Med 2005;50:373-376.
235. Grange CS, Heide R, Lucas SB, et al. Anaesthesia in a patient with Noonan's syndrome. Can J Anaesth 1998;45:332-336.
236. Canobbio MM, Rapkin AJ, Perloff JK, Lin A, Child JS. Menstrual patterns in women with congenital heart disease. Pediatr Cardiol 1995;16:12-15.
237. Canobbio MM, Perloff JK, Rapkin AJ. Gynecological health of females with congenital heart disease. Int J Cardiol 2005;98:379-387.
238. Vessey M, Mant J, Smith A, Yeates D. Oral contraceptive and venous thromboembolism: indices in a large prospective study. BMJ 1986;292:526.
239. Hoess K, Goldmuntz E, Pyeritz RE. Genetic counseling for congenital heart disease: new approaches for a new decade. Curr Cardiol Rep 2002;4:68-75.
240. Van Rijen EH, Utens EM, Roos-Hesselink JW, et al. Current subjective state of health, and longitudinal psychological well-being over a period of 10 years, in a cohort of adults with congenital cardiac disease. Cardiol Young 2005;15:168-175.
241. Rizk DE, Deb P. A spontaneous and uneventful pregnancy in a Turner mosaic with previous recurrent miscarriages. J Pediatr Adolesc Gynecol 2003;16:87-88.
242. Kaneko N, Kawagoe S, Hiroi M. Turner's syndrome-review of the literature with reference to a successful pregnancy outcome. Gynecol Obstet Invest 1990;29:81-87.
243. King CR, Magenis E, Bennett S. Pregnancy and the Turner syndrome. Obstet Gynecol 1978;52:617-624.
244. Allan L. Prentatal diagnosis of structural cardiac defects. Am J Med Genet C Semin Med Genet 2007;145C:73-76.
245. Sonek J. First trimester ultrasonography in screening and detection of fetal anomalies. Am J Med Genet C Semin Med Genet 2007;145C:45-61.
246. Breathnach FM, Fleming A, Malone FD. The second trimester genetic sonogram. Am J Med Genet C Semin Med Genet 2007;145C:62-72.
247. Spencer K. Aneuploidy screening in the first trimester. Am J Med Genet C Semin Med Genet 2007;145C:18-32.
248. ACOG Committee on Genetics (2). ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol 2004;104:425-428.
249. ACOG Committee on Genetics (1). ACOG committee opinion. Number 325, December 2005. Update on carrier screening for cystic fibrosis. Obstet Gynecol 2005; 106:1465-1468.
250. Kuliev A, Verlinsky Y. Place of preimplantation diagnosis in genetic practice. Am J Med Genet 2005;134:105-110.
251. Thornhill AR, DeDie-Smudlers CE, Geraedts JO, et al.; ESHRE PGD Consortium. Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Hum Reprod 2005;20:35-48.
252. Press F, Shapiro HM, Cowell CA, Oliver GD. Outcome of ovum donation in Turner's syndrome patients. Fertil Steril 1995;64:995-998.
253. Bui TH, Harper JC. Preimplantation genetic diagnosis. Clin Obstet Gynecol 2002; 45:640-648.
254. Jain T, Harlow BL, Hornstein MD. Insurance coverage and outcomes of in vitro fertilization. N Engl J Med 2002;347:661-666.
255. Lavery SA, Aurell R, Turner C, et al. Preimplantation genetic diagnosis: patients' experiences and attitudes. Hum Reprod 2002;17:2464-2467.
256. Transitioning care
257. American Academy of Pediatrics; American Academy of Family Physicians; American College of Physicians-American Society of Internal Medicine. A consensus statement on health care transitions for young adults with special health care needs. Pediatrics 2002;110:1304-1306.
258. Donaldson MDC, Gault EJ, Tan KW, Dunger DB. Optimising management in Turner syndrome: from infancy to adult transfer. Arch Dis Child 2006;91:513-520.
259. Pober BR, Morris CA. Diagnosis and management of medical problems in adults with Williams-Beuren syndrome. Am J Med Genet C Semin Med Genet 2007;145C: 280-290.
260. Fernandes SM, Landsberg MJ. Transitioning the young adult with congenital heart disease for life-long medical care. Pediatr Clin North Am 2004;51:1739-1748.
261. Reid GJ, Irvine MJ, McCrindle BW, et al. Prevalence and correlates of successful transfer from pediatric to adult health care among a cohort of young adults with complex congenital heart defects. Pediatrics 2004;113:e97-e205.
262. Chessa M, Arciprete P, Bossone E, et al. A multicentre approach for the management of adults with congenital heart disease. J Cardiovasc Med 2006;7:701-705.
263. Moons P, Van Deyk K, De Bleser L, et al. Quality of life and health status in adults with congenital heart disease: a direct comparison with healthy counterparts. Eur J Cardiovasc Prev Rehabil 2006;13:407-413.
264. Moons P, Engelfriet P, Kaemmerer H, et al. On behalf of the Expert committee of Euro heart survey on adult congenital heart disease. Delivery of care for adult patients with congenital heart disease in Europe: results from the Euro heart survey. Eur Heart J 2006;27:1324-1330.
265. Reid GJ, Webb GD, Barzel M, et al. Estimates of life expectancy by adolescents and young adults with congenital heart disease. J Am Coll Cardiol 2006;48:349-355.
266. Skorton D, Garson A, Allen HD, et al. Task force 5: adults with congenital heart disease: access to care. J Am Coll Cardiol 2001;37:1193-1198.
267. Giampietro P, Greenlee R, McPherson E, et al. Acute health events in adult patients with genetic disorders: the marshfield epidemiologic study area. Genet Med 2006; 8:474-490.
268. Battaglia A, Carey JC, Wright TJ. Wolf-Hirschhorn (4p-) syndrome. Adv Pediatr 2001;48:75-113.
269. Spinner NB. Genetics of alagille syndrome. Prog Pediatr Cardiol 2005;20:169-176.
270. Roberts A, Allanson J, Jadico SK, et al. The cardiofaciocutaneous syndrome. J Med Genet 2006;43:833-842.
271. Narumi Y, Aoki Y, Niihori T, et al. Molecular and clinical characterization of cardiofacio-cutaneous (CFC) syndrome. Am J Med Genet 2007; Part A 143A:799-807.
272. Lin AE, Grossfeld PD, Hamilton R, et al. Further delineation of cardiac anomalies in Costello syndrome. Am J Med Genet 2002;111:115-129.
273. White S, Graham JM Jr, Kerr B, Gripp K. The adult phenotype in Costello syndrome. Am J Med Genet Part A 2005;136:128-135.
274. Hagerman RJ. Fragile X syndrome. In: Cassidy SB, Allanson JE, editors. Management of genetic syndromes, 2nd ed. New Jersey: John Wiley and Sons, 2005:258.
275. Surka WS, Kohlhase J, Neunert CE, et al. Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. Am J Med Genet 2001;102:250-257.
276. Benson DW, Silberbach GM, Kavanaugh-McHugh A, et al. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest 1999;104:1567-1573.
277. Lofreddo CA, Wilson PD, Ferencz C. Maternal diabetes: an independent risk factor for major cardiovascular malformations with increased mortality of affected infants. Teratology 2001;64:98-106.
278. Levy HL, Guldberg P, Guttler F, et al. Congenital heart disease in maternal phenylketonuria: report from the maternal PKU collaborative study. Pediatr Res 2001; 49:636-642.
279. Lammer EJ, Chen DT, Hoar RM, et al. Retinole acid embryopathy. N Engl J Med 1985;313:837-841.
280. Honein MA, Paulozzi LJ, Erickson JD. Continued occurrence of accutane-exposed pregnancies. Teratology 2001;64:142-147.