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Acquired cardiovascular disease in Turner syndrome


Authors: S. Kaprálová 1;  J. Zapletalová 1;  R. Vrtěl 2;  E. Klásková 1
Authors place of work: Dětská klinika Fakultní nemocnice a Lékařské fakulty Univerzity Palackého, Olomouc 1;  Ústav lékařské genetiky Fakultní nemocnice a Lékařské fakulty Univerzity Palackého, Olomouc 2
Published in the journal: Čes-slov Pediat 2017; 72 (1): 54-62.
Category: Review

Summary

Turner syndrome (TS) is the most common chromosomal disorder in women, which is caused by absence or structural abnormality of X chromosome with classical traits that include growth retardation, gonadal dysgenesis and infertility.

Acquired cardiovascular disease is a major cause of premature morbidity and mortality in TS. Congenital heart disease and acquired cardiovascular disease can reduce life expectancy by up to 13 years. Ischemic heart disease, stroke and aortic dissection belong to acquired cardiovascular disease with high prevalence.

This review is focused on issues of risk factors for acquired cardiovascular disease such as arterial hypertension, glucose metabolism disorders, dyslipidemia and obesity in patients with TS. The main point of this review is arterial hypertension, its prevalence in TS, diagnostic and appropriate therapeutic approaches.

Key words:
Turner syndrome, acquired cardiovascular disease, hypertension, ABPM, ascending aortic dilation, aortic dissection, glucose metabolism disorders, dyslipidemia, obesity


Zdroje

1. Elsheikh M, Conway GS, Wass JAHDDB. Turner’s syndrome in adults. Endocr Rev 2002; 23: 120–140.

2. Stochholm K, Juul S, Juel K, et al. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab 2006; 91: 3897–3902.

3. Zapletalová J, Šnajderová M, Lebl J. Turnerův syndrom v dětství a v adolescenci. Remedia 2012; 22: 199–205.

4. Mortensesn KH, Andersen NH, Gravholt CH. Cardiovascular phenotype in Turner syndrome – Integrating cardiology, genetics, and endocrinology. Endocrine Reviews 2012; 33: 677–714.

5. Held KR, Kerber S, Kaminsky E, et al. Mosaicism in 45, X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet 1992; 88: 288–294.

6. Fernandéz R, Méndez J, Pásaro E. Turner syndrome: a study of chromosomal mosaicism. Hum Genet 1996; 98: 29–35.

7. Hassold TJ. Chromosome abnormalities in human reproductive wastage. Trends Genet 1986; 2: 105–110.

8. Boucher CA, Sargnet CA, Ogata T, et al. Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location. J Med Genet 2001; 38: 591–598.

9. Chu CE, Donaldson MD, Kelnar CJ, et al. Possible role of imprinting in the Turner phenotype. J Med Genet 1994; 31: 840–842.

10. Clark EB. Neck web and congenital heart defects: a pathogenic association in 45 X-0 Turner syndrome? Teratology 1984; 29: 355–361.

11. Bondy CA. Genomic imprinting in Turner syndrome. In: Gravholt CH, Bondy CA, et al. Welness for Girls and Women with Turner Syndrome. Amsterdam: Elsevier, 2006: 21–25.

12. Klásková E, Tüdös Z, Sobek A, et al. Low-level 45,X/46XX mosaicism is not associates with congenital heart disease and thoracic aorta dilatation: prospective magnetic resonance imaging and ultrasound study. Ultrasound Obstet Gynecol 2015; 45: 722–727.

13. Ho VB, Bakalov VK, Cooley M, et al. Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic feature. Circulation 2004; 110: 1694–1700.

14. De Groote K, Devos D, Van Herck K, et al. Abnormal aortic arch morphology in Turner syndrome patients is a risk factor for hypertension. Heart Vessels 2015; 30: 618–625.

15. Sybert VP. Cardiovascular malformations and complications in Turner sydrome. Pediatrics 1998; 101: 11–17.

16. Gravholt CH, Juul S, Naerra RW, et al. Morbidity in Turner syndrome. J Clin Epidemiol 1998; 51: 147–158.

17. Schoemaker NJ, Swerdlow AJ, Higgins CD, et al. Mortality in women with Turner syndrome in Great Britain: a national cohort study. J Clin Endocrinol Metab 2008; 93: 4735–4742.

18. Gravholt CH. Epidemiological, endocrine and metabolic features in Turner syndrome. Eur J Endocrinol 2004; 151: 657–687.

19. Bondy CA. Congenital cardiovascular disease in Turner syndrome. Congenit Heart Dis 2008; 3: 2–15.

20. Gravholt CH, Landin-Wilhelmsen K, Stoccholm K, et al. Clinical and epidemiological description of aortic dissection in Turner’s syndrome. Cardiol Young 2006; 16: 430–436.

21. De Groote K, Demulier L, De Backer J, et al. Arterial hypertension in Turner syndrome: a review of the literature and a practical approach for diagnosis and treatment. J Hypertens 2015; 33: 1342–1351.

22. Lopez L, Arheart KL, Colan SD, et al. Turner syndrome is an independent risk factor for aortic dilatation in the young. Pediatrics 2008; 121: 1622–1627.

23. Landin-Wilhelmsen K, Bryman I, Wilhelmsen L. Cardiac malformations and hypertension, but not metabolic risk factors, are common in Turner syndrome. J Clin Endocrinol Metab 2001; 86: 4166–4170.

24. Lee SH, Jung JM, Song MS, et al. Evaluation of cardiovascular anoma-lies in patients with asymptomatic Turner syndrome using multidetector computed tomography. J Korean Med Sci 2013; 28: 1169–1173.

25. Snieder H, Harshfield GA, Treiber FA. Heritability of blood pressure and hemodynamics in African- and European-American youth. Hypertension 2003; 41: 1196–1201.

26. Goel M, Pal P., Arawal A, et al. Relationship of body mass index and other life style factors with hypertension in adolescents. Ann Pediatr Cardiol 2016; 9 (1): 29–34.

27. Poprawski K, Michalski M, Lawniczak M, et al. Cardiovascular abnormalities in patients with Turner syndrome according to karyotype. Pol Arch Med Wewn 2009; 119: 453–460.

28. Fudge EB, Constantacos C, Fudge JC, et al. Improving detection of hypertension in girls with Turner syndrome using ambulatory blood pressure monitoring. Horm Res Paediatr 2014; 81: 25–31.

29. Nathwani NC, Unwin R, Brook CG, et al. Blood pressure and Turner syndrome. Clin Endocrinol 2000; 52: 363–370.

30. Gravholt CH, Hansen KW, Erlandsen M, et al. Nocturnal hypertension and impaired sympathovagal tone in Turner syndrome. J Hypertens 2006; 24: 353–360.

31. Zuckerman-Levin N, Zinder O, Greenberg A, et al. Physiological and catecholamine response to sympathetic stimulation in Turner syndrome. Clin Endocrinol 2006; 64: 410–415.

32. Maric-Bilkan C, Gilbert EL, Ryan MJ. Impact of ovarian function on cardiovascular health in women: focus on hypertension. Int J Womens Health 2014; 6: 131–139.

33. Gravholt CH, Mortensen KH, Andersen NH, et al. Coagulation and fibrinolytic disturbances are related to carotid intima thickness and arterial blood pressure in Turner syndrome. Clin Endocrinol 2012; 76: 649–665.

34. Ostberg JE, Donald EA, Halcox JP, et al. Vasculopathy in Turner syndrome: arterial dilatation and intimal thickening without endothelial dysfunction. J Clin Endocrinol Metab 2005; 90: 5161–5166.

35. Baguet JP, Douchin S, Pierre H, et al. Structural and functional abnormalities of large arteries in the Turner syndrome. Heart 2005; 91: 1442–1446.

36. Mortensen KH, Hansen KW, Erlandsen M, et al. Ambulatory arterial stiffness index in Turner syndrome: the impact of sex hormone replacement therapy. Horm Res 2009; 72: 184–189.

37. Eklund M, Kotilainen J, Evalathi M, et al. Cephalometric analysis of pharyngeal airway space dimensions in Turner syndrome. Eur J Orthod 2012; 34: 219–225.

38. Štejfa M, et al. Kardiologie. 2. vyd. Praha: Grada, 1998: 1–500.

39. Souček M, Kára T, et al. Klinická patofyziologie hypertenze. 2. vyd. Praha: Grada Publishing, 2002: 1–654.

40. Nathwani NC, Unwin R, Brook CGD, et al. Blood pressure and Turner syndrome. Clin Endocrinol 2000; 52: 363–370.

41. Vasunta RL, Kesäniemi YA, Ylitalo A, et al. Non-dipping pattern and carotid atherosclerosis in a middle-aged population: OPERA study. Am J Hypertens 2012; 25: 60–66.

42. Staessen JA, Thijs L, Fagard R, et al. Predicting cardiovascular risk using conventional vs ambulatory blood pressure in older patients with systolic hypertension. JAMA 1999; 282: 539–546.

43. Conway GS, Band M, Doyle J, et al. How do you monitor the patient with Turner‘s syndrome in adulthood. Clin Endocrinol 2010; 73: 696–699.

44. Turtle EJ, Sule AA, Bath LE, et al. Assessing and addressing cardiovascular risk in adults with Turner syndrome. Clin Endocrinol 2013; 78: 639–645.

45. Wuhl E, Witte K, Soergel M, et al. Distribution of 24-h ambulatory blood pressure in children: normalized reference values and role of body dimensions. J Hypertens 2002; 20: 1995–2007.

46. van der Berg J, Bannink EM, Wielopolski PA, et al. Cardiac status after childhood growth hormone treatment of Turner syndrome. J Clin Endocrinol Metab 2008; 93: 2553–2558.

47. Bannink EM, van der Palen RI, Mulder PG, et al. Long-term follow-up of GH-treated girls with Turner syndrome: BMI, blood pressure, body proportions. Horm Res 2009; 71: 336–342.

48. Elsheikh M, Bird R, Casadei B, et al. The effect of hormone replacement therapy on cardiovascular hemodynamics in women with Turner’s syndrome. J Clin Endocrinol Metab 2000; 85: 614–618.

49. Matura LA, Ho VB, Rosing DR, et al. Aortic dilatation and dissection in Turner syndrome. Circulation 2007; 116: 1663–1670.

50. Swerdlow AJ, Hermon C, Jacobs PA, et al. Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study. Ann Hum Genet 2001; 65: 177–188.

51. 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.

52. Carlson M, Airhart N, Lopez L, et al. Moderate aortic enlargement and bicuspid aortic valve are associated with aortic dissection in Turner syndrome: report of the International Turner Sydrome Aortic Dissection Registry: Circulation 2012; 126: 2220–2226.

53. Chalard F, Ferey S, Teinturier C, et al. Aortic dilatation in Turner syndrome: the role of MRI in early recognition. Pediatr Radiol 2005; 35: 323–326.

54. Mortensen KH, Hjerrild BE, Stochholm K. Dilatation of the ascending aorta in Turner syndrome – a prospective cardiovascular magnetic resonance study. J Cardiovasc Magn Reson 2011; 13: 24.

55. Turtle EJ, Sule AA, Webb DJ, et al. Aortic dissection in children and adolescents with Turner syndrome: risk factors and management recommendations. Arch Dis Child 2015; 100: 662–666.

56. Brooke BS, Habashi JP, Judge DP, et al. Angiotensin II blockade and aortic-root dilatation in Marfan’s syndrome. N Engl J Med 2008; 358: 2787–2795.

57. Forte A, Della Corte A, Grossi M, et al. Early cell changes and TGF beta pathway alterations in the aortopathy associated with bicuspid aortic valve stenosis. Clin Sci 2013; 124: 97–108.

58. Hovatta O. Pregnancies in women with Turner’s syndrome. Ann Med 1999; 31: 106–110.

59. Chevalier N, Letur H, Lelannou D, et al. Materno-fetal cardiovasculat complications in Turner syndrome after oocyte donation: insufficient prepregnancy screening and pregnancy follow-up are associated with poor outcome. J Clin Endocrinol Metab 2011; 92: 260–267.

60. Karnis MF, Zimon AE, Lalwani SI, et al. Risk of death in pregnancy achieved throught oocyte donation in patients with Turner syndrome: a national survey. Fertil Steril 2003; 80: 498–501.

61. Cabanes L, Chalas C, Christin-Maitre S, et al. Turner syndrome and pregnancy: clinical practice. Recommendations for the management of patients with Turner syndrome before and during pregnancy. Eur J Obstet Gynecol Reprod Biol 2010; 152: 18–24.

62. Gravholt CH, Naerra RW, Nyholm B, et al. Glucose metabolism, lipid metabolism, and cardiovascular risk factors in adult Turner’s syndrome. The impact of sex hormone replacement. Diabetes Care 1998; 21: 1062–1070.

63. Caprio S, Boulware S, Diamond M, et al. Insulin resistance: an early metabolic defect of Turner syndrome. J Clin Endocrinol Metab 1991; 72: 832.

64. Bakalov VK, Cooley MM, Quon MJ, et al. Impaired insulin secretion in the Turner metabolic syndrome. J Clin Endocrinol Metab 2004; 89: 3516.

65. Gravholt CH, Naerraa RW, Brixen K, et al. Short-term growth hormone treatment in girls with Turner syndrome decreases fat mass and insulin sensitivity: a randomized, double-blind, placebo-controlled, crossover study. Pediatrics 2002; 110: 889–896.

66. Garden AS, Diver MJ, Fraser WD. Undiagnosed morbidity in adult women with Turner’s syndrome. Clin Endocrinol 1996; 45: 589–593.

67. Elsheikh M, Conway GS. The impact of obesity on cardiovascular risk factors in Turner’s syndrome. Clin Endocrinol 1998; 49: 447–450.

68. Ross JL, Feuillan P, Long LM, et al. Lipid abnormalities in Turner syndrome. J Pediatr 1995; 126: 242–245.

69. 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.

70. Gravholt CH, Hjerrild BE, Mosekilde L. Body composition is distinctly altered in Turner syndrome: relations to glucose metabolism, circulating adipokones, and endothelial adhesion molecules. Eur J Endocrinol 2006; 155: 583–592.

71. O’Gorman CS, Syme C, Lang J, et al. An evaluation of early cardiometabolic risk factors in children and adolescents with Turner syndrome. Clin Endocrinol 2013; 78: 907–913.

Štítky
Neonatology Paediatrics General practitioner for children and adolescents

Článok vyšiel v časopise

Czech-Slovak Pediatrics

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