Clinical characteristics of pulmonary arterial hypertension associated with Down syndrome

Pediatrics International

Volumn 56, Issue 3, 2014, Pages 297-303

  Saji, Tsutomu ^a  

^a TOHO UNIVERSITY OMORI MEDICAL CENTER   (Japan)

Author keywords

atrioventricular septal defect; congenital heart disease; Down syndrome; nitric oxide; pulmonary hypertension

Indexed keywords

BOSENTAN; ENDOTHELIN 1; NITRIC OXIDE; PROSTACYCLIN; THROMBOXANE; VASODILATOR AGENT;

ARTERY RESISTANCE; ARTERY WALL; ATRIOVENTRICULAR SEPTAL DEFECT; CELL PROLIFERATION; CLINICAL FEATURE; CRELD 1 GENE; DISEASE ASSOCIATION; DOWN SYNDROME; DRUG EFFICACY; ENDOTHELIAL DYSFUNCTION; ENDOTHELIUM CELL; GATA 4 GENE; HEART CATHETERIZATION; HEART SURGERY; HISTOPATHOLOGY; HYPERTENSIVE CRISIS; MORBIDITY; PRIORITY JOURNAL; PULMONARY ARTERY; PULMONARY HYPERTENSION; REVIEW; RISK FACTOR; COMPLICATION; HUMAN;

DOWN SYNDROME; HUMANS; HYPERTENSION, PULMONARY;

EID: 84901834027     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/ped.12349     Document Type: Review

References (81)

1. Seguin E,. Idiocy: And its Treatment by the Physiological Method. W. Wood & Co., New York; 1866.
2. Down JLH,. Observations on an ethnic classification of idiots. Clin. Lecture Rep. London Hosp. 1866; 3: 259-262.
3. Lejeune J, Gauthier M, Turpin R,. Les chromosomes humains en culture de tissus. CR Hebd Seances Acad. Sci. 1959; 248: 602-603.
4. Patterson D, Costa ACS,. Down syndrome and genetics: A case of linked histories. Nat. Rev. Genet. 2005; 6: 137-147.
5. Lott IT, Head E, Doran E, Busciglio J,. Beta-amyloid, oxidative stress and down syndrome. Curr. Alzheimer Res. 2006; 3: 521-528.
6. Wiseman FK, Alford KA, Tybulewic VLJ, Fisher EM,. Down syndrome: Recent progress and future prospects. Hum. Mol. Genet. 2009; 18 (R1): R75-R83.
7. Patterson D,. Molecular genetic analysis of Down syndrome. Hum. Genet. 2009; 126: 195-214.
8. Neill CA, Zuckerberg AL,. Syndromes and congenital heart defects. In:, Nichols DG, Cameron DE, Greeley WJ, et al. (eds). Critical Heart Disease in Infants and Children. Mosby, St Louis, 1995; 987-1012.
9. Sarkozy A, Esposito G, Conti E, et al. CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects. Am. J. Med. Genet. 2005; 139A: 236-238.
10. Nishimune A, Suzuki F, Yoshiki H, Morishima S, Muramatsu I,. Identification of cysteine-rich epidermal growth factor-like domain 1α (CRELD1α) as a novel α1A-adrenoreceptor-down-regulating protein and establishment of an α1L-adrenoreceptor-expressing cell line. J. Pharmacol. Sci. 2010; 113: 169-181.
11. Freeman SB, Bean LH, Allen EG, et al. Ethnicity, sex, and the incidence of congenital heart defects: A report from the National Down Syndrome Project. Genet. Med. 2008; 10: 173-180.
12. Maslen CL, Babcock D, Robinson SW, et al. CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. Am. J. Med. Genet. A 2006; 140: 2501-2505.
13. Moore CS,. Postnatal lethality and cardiac anomalies in the Ts65Dn Down syndrome mouse model. Mamm. Genome 2006; 17: 1005-1012.
14. Sungur M, Ocal B, Oguz D, Karademir S, Karakurt C, Senocak F,. Plasma endothelin-1 and nitrate levels in Down's syndrome with complete atrioventricular septal defect-associated pulmonary hypertension: A comparison with non-Down's syndrome. Eur. J. Pediatr. 2009; 186: 593-597.
15. Cua CL, Rogers LK, Chicoine LG, et al. Down syndrome patients with pulmonary hypertension have elevated plasma levels of asymmetric dimethylarginine. Eur. J. Pediatr. 2011; 170: 859-863.
16. Cua CL, Cooke G, Taylor M, et al. Endothelial nitric oxide synthase polymorphisms associated with abnormal nitric oxide production are not over-represented in children with Down syndrome. Congenit. Heart Dis. 2006; 1: 169-174.
17. Kageyama K, Hashimoto S, Nakajima Y, Shime N, Hashimoto S,. The change of plasma endothelin-1 levels before and after surgery with or without Down syndrome. Paediatr. Anaesth. 2007; 17: 1071-1077.
18. Cannon BC, Feltes TF, Fraley JK, Grifka RG, Riddle EM, Kovalchin JP,. Nitric oxide in the evaluation of congenital heart disease with pulmonary hypertension; factors related to nitric oxide response. Pediatr. Cardiol. 2005; 26: 565-569.
19. Knirsch W, Eiselt M, Nurnberg J, et al. Pulmonary catecholamine levels and pulmonary hypertension in congenital heart disease. Kardiol. 2002; 91: 1035-1043.
20. Hashiguchi R,. The involvement of vasoactive prostanoids in pulmonary hypertension with congenital heart disease: The investigation of thromboxane A2 and prostaglandin I2. Pediatr. Cardiol. Cardiac. Surg. 1991; 7: 253-260.
21. Fukushima H, Kosaka K, Sato K, et al. Mechanisms underlying early development of pulmonary vascular obstructive disease in Down syndrome: An imbalance in biosynthesis of thromboxane A2 and prostacyclin. Am. J. Med. Genet. Part A 2010; 152A: 1919-1924.
22. Chi TPL, Krovetz J,. The pulmonary vascular bed in children with Down syndrome. J. Pediatr. 1975; 86: 533-538.
23. Yamaki S,. The Diagnosis in Biopsied Samples From Patients With VSD and PDA. The Diagnosis of Pulmonary Vasculopathy in Lung Biopsy Samples for Clinicians, 1st edn. Medical Reviews, Osaka, 2000.
24. Yamaki S, Horiuchi T, Sekine Y,. Quantitative analysis of pulmonary vascular disease in simple cardiac anomalies with the Down syndrome. Am. J. Cardiol. 1983; 51: 1502-1506.
25. Fujiyama J, Yoshida Y, Ogata H, et al. Assessment of Pulmonary vascular bed by pulmonary wedge angiography in patients with Down syndrome. Shinzo 1988; 20: 823-829.
26. Arimura A,. The change of nail capillary vessels in Down syndrome. Angiology 1983; 23: 43-48.
27. Lopes AA,. Pre-operative pulmonary hypertension in congenital heart disease and aspects of Eisenmenger's syndrome. In:, Beghetti M, Barst RJ, Berger RMF, et al (eds). Pediatric Pulmonary Hypertension. Elsevier, Munich, 2011; 187-207.
28. Thieren M, Stijns-Cailteux M, Tremouroux-Wattie M, et al. Congenital heart diseases and obstructive pulmonary vascular diseases in Down's syndrome. A propos of 142 children with trisomy 21. Arch. Mal. Coeur Vaiss. 1988; 81: 655-661.
29. Hasegawa N, Oshima M, Kawakami H, et al. Changes in pulmonary tissue of patients with congenital heart disease and Down syndrome: A morphological and histological study. Acta Paediatr. Jpn. 1990; 32: 60-66.
30. Greenwood RD, Nadas AS,. The clinical course of cardiac disease in Down's syndrome. Pediatrics 1976; 58: 893-897.
31. Freedom RM, Yoo S-J, Coles J,. Atrioventricular septal defects. In:, Freedom RM, Yoo SJ, Mikailian H, et al. (eds). The Natural and Modified History of Congenital Heart Disease. Blackwell, New York, 2004; 44-55.
32. Adatia I, Beghetti M,. Immediate postoperative care in pulmonary hypertension associated with congenital heart disease. Cardiol. Young 2009; 19 (Suppl. 1): 23-27.
33. Clapp S, Perry BL, Farooki Q, et al. Down's syndrome, complete atrioventricular canal, and pulmonary vascular obstructive disease. J. Thorac. Cardiovasc. Surg. 1990; 100: 115-121.
34. Vazquez-Antona CA, Lomeli C, Buendia A, Vargas-Barron J,. [ Pulmonary hypertension in children with Down's syndrome and congenital heart disease. Is it really more severe?] Arch. Cardiol. Mex. 2006; 76: 16-27 (in Spanish).
35. Van de Bruaene A, Delcroix M, Pasquet A, et al. The Belgian Eisenmenger syndrome registry: Implications for treatment strategies. Acta Cardiol. 2009; 64: 447-453.
36. Diller GP, Alonso-Gonalez R, Kempny A, et al. B-type natriuretic peptide concentrations in contemporary Eisenmenger syndrome patients: Predictive value and response to disease targeting therapy. Heart 2012; 98: 736-742.
37. Vis JC, Thoonsen H, Duffles MG, et al. Six-minute walk test in patients with Down syndrome: Validity and reproducibility. Arch. Phys. Med. Rehabil. 2009; 90: 1423-1429.
38. Rodriguez FH, Moodie DS, Parekh DR, et al. Outcomes of hospitalization in adults in the United States with atrial septal defect, ventricular septal defect, and atrioventricular septal defect. Am. J. Cardiol. 2011; 108: 290-293.
39. American Academy of Pediatrics, Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics 2001; 107: 442-449.
40. Cooney TP, Thurlbeck WM,. Pulmonary hypoplasia in Down syndrome. N. Engl. J. Med. 1982; 307: 1170-1173.
41. Yamaki S, Horiuchi T, Takahashi T,. Pulmonary changes in congenital heart disease with Down's syndrome: Their significance as a cause of postoperative respiratory failure. Thorax 1985; 40: 380-386.
42. Shott SR, Amin R, Chini B, Heubi C, Hotze S, Akers R,. Obstructive sleep apnea: Should all children with Down syndrome be tested? Arch. Otolaryngol. Head Neck Surg. 2006; 132: 432-436.
43. Javobs IN, Teague WG, Bland JW Jr,. Pulmonary vascular complications of chronic airway obstruction in children. Arch. Otolaryngol. Head Neck Surg. 1997; 123: 700-704.
44. Hawkins A, Langton-Hewer S, Henderson J, Tulloh RM,. Management of pulmonary hypertension in Down syndrome. Eur. J. Pediatr. 2011; 170: 915-921.
45. Durmowicz AG,. Pulmonary edema in 6 children with Down syndrome during travel to moderate altitudes. Pediatrics 2001; 108: 443-447.
46. Hoskote A, Chessells J, Pierce C,. Transient abnormal myelopoiesis (TAM) causing multiple organ failure. Intensive Care Med. 2002; 28: 758-762.
47. Aurora RN, Zak RS, Karippot A, et al. Practice parameters for the respiratory indications for polysomnography in children. Sleep 2011; 34: 379-388.
48. Bogert JN, Potter DD, Crow S, Arteaga GM, Freese DK,. An unusual presentation of a congenital intrahepatic arterioportal fistula in an infant with Down syndrome. J. Pediatr. Surg. 2011; 46: 252-255.
49. Spicer RL,. Cardiac disease in Down syndrome. Pediatr. Clin. North Am. 1984; 31: 1331-1343.
50. Perloff JK,. The chest x-ray in congenital heart disease. In:, Warnes CA, (ed). Adult Congenital Heart Disease. Wiley-Blackwell, Philadelphia, 2009; 208-220.
51. Bloomers BL, van Furth AM, Weijerman ME, et al. Down syndrome: A novel risk factor for respiratory syncytial virus bronchiolitis; a prospective birth-cohort study. Pediatrics 2007; 120: e1076-1081.
52. Zachariah P, Ruttenber M, Simoes EAF,. Down syndrome and hospitalizations due to respiratory syncytial virus: A population-based study. J. Pediatr. 2012; 160: 827-831.
53. Weijerman ME, van Furth AM, van der Mooren MD, et al. Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome. Eur. J. Pediatr. 2010; 169: 1195-1199.
54. Cua CL, Blankenship A, North AL, Hayes J, Nelin LD,. Increased incidence of idiopathic persistent pulmonary hypertension in Down syndrome neonates. Pediatr. Cardiol. 2007; 28: 250-254.
55. Shah PS, Hellmann J, Adatia I,. Clinical characteristics and follow up of Down syndrome infants without congenital heart disease who presented with persistent pulmonary hypertension. J. Perinat. Med. 2004; 32: 168-170.
56. Roberts KE, McElroy JJ, Wong WP, et al. BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease. Eur. Respir. J. 2004; 24: 371-374.
57. Canter JA, Summar ML, Smith HB, et al. Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthase 1 predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: A validated genetic association study. Mitochondrion 2007; 7: 204-210.
58. Baciewic FA, Melvin WS, Basilius D, Davis JT,. Congenital heart disease in Down's syndrome: A decade of surgical experience. Thorac. Cardiovasc. Surg. 1898; 37: 369-371.
59. 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.
60. Michielon G, Marino B, Oricchio G, et al. Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of cohort of conotruncal heart. J. Thorac. Cardiovasc. Surg. 2009; 138: 565-570.
61. Malec E, Mrocek T, Pajak J, Janeszewska K, Zdebska E,. Results of surgical treatment of congenital heart defects in children with Down's syndrome. Pediatr. Cardiol. 1999; 20: 351-354.
62. Formigari R, Di Donato RM, Gargiulo G, et al. Better surgical prognosis for patients with complete atrioventricular septal defect and Down's syndrome. Ann. Thorac. Surg. 2004; 78: 666-672.
63. Suzuki K, Yamaki S, Mimori S, et al. Pulmonary vascular disease in Down's syndrome with complete atrioventricular septal defect. Am. J. Cardiol. 2000; 86: 434-437.
64. Ohashi N, Matsushima M, Maeda M, Yamaki S,. Two-stage procedure for pulmonary vascular obstructive disease in Down syndrome with congenital heart disease. Circ. J. 2006; 70: 1446-1450.
65. Kawai T, Wada Y, Enmoto T, et al. Comparison of hemodynamic data before and after corrective surgery for Down's syndrome and ventricular septal defect. Heart Vessels 1995; 10: 154-157.
66. Turanlahti MI, Laitinen PO, Pesonen EJ,. Preoperative and postoperative response to inhaled nitric oxide. Scand. Cardiovasc. J. 2000; 4: 46-52.
67. Ip P, Chiu CS, Cheung YF,. Risk factors prolonging ventilation in young children after cardiac surgery: Impact of noninfectious pulmonary complications. Pediatr. Crit. Care Med. 2002; 3: 269-274.
68. Harrison AM, Cox AC, Davis S, Piedmonte M, Drummond-Webb JJ, Mee RB,. Failed extubation after cardiac surgery in young children: Prevalence, pathogenesis, and risk factors. Pediatr. Crit. Care Med. 2002; 3: 148-152.
69. Wada N, Takahashi Y, Ando M, et al. Single ventricle repair in children with Down's syndrome. Genet. Thorac. Cardiovasc. Surg. 2008; 56: 104-108.
70. Leonard H, Eastham K, Dark J,. Heart and Lung transplantation in Down's syndrome. BMJ 2000; 320: 816-817.
71. Banks MA, Jenson J, Kugler JD,. Late development of atrioventricular block after congenital heart surgery in Down syndrome. Am. J. Cardiol. 2001; 88: A7, 86-89.
72. Van de Bruaene A, Delcroix M, Pasquet A, et al. The Belgian Eisenmenger syndrome registry: Implications for treatment strategies? Acta Cardiol. 2009; 64: 447-453.
73. Duffels MG, Vis JC, van Loon RL, et al. Effect of bosentan on exercise capacity and quality of life in adults with pulmonary arterial hypertension associated with congenital heart disease with and without Down's syndrome. Am. J. Cardiol. 2009; 103: 1309-1315.
74. Kaya MG, Lam YY, Erer B, et al. Long-term effect of bosentan therapy on cardiac function and symptomatic benefits in adult patients with Eisenmenger syndrome. J. Card. Fail. 2012; 18: 379-384.
75. Duffels MG, Vis JC, van Loon RL, et al. Down patients with Eisenmenger syndrome: Is bosentan treatment an option? Int. J. Cardiol. 2009; 134: 378-383.
76. Kermeen FD, Franks C, O'Brien K, et al. Endothelin receptor antagonists are an effective long term treatment option in pulmonary arterial hypertension associated with congenital heart disease with or without trisomy 21. Heart Lung Circ. 2010; 19: 595-600.
77. D'Alto M, Romeo E, Argiento P, et al. Therapy for pulmonary hypertension due to congenital heart disease and Down's syndrome. Int. J. Cardiol. 2013; 164: 323-326.
78. Boniface S, Reynaud-Gaubert M,. Endothelin receptor antagonists: Their role in pulmonary medicine. Rev. Mal. Respir. 2011; 8: e94-e107.
79. Diller GP, Alonso-Gonalez R, Dimopoulos K, et al. Disease targeting therapies in patients with Eisenmenger syndrome: Response to treatment and long-term efficacy. Int. J. Cardiol. 2013; 167: 840-847.
80. D'Alto M, Mahadevan MS,. Pulmonary arterial hypertension associated with congenital heart disease. Eur. Respir. Rev. 2012; 126: 328-337.
81. Saji T,. Clinical characteristics of pulmonary arterial hypertension associated with Down syndrome. Pediatr. Cardiol. Cardiac Surg. 2013; 29: 3-10.