Aynur KUZUCU, Sadi VİDİNLİSAN, A. Esin KİBAR, FİLİZ EKİCİ, Nursel ALPAN, Hasan Tahsin ÇAKIR

Down sendromunda konjenital kalp hastalığı sıklığının ve ekokardiyografik bulguların değerlendirilmesi

Amaç: Down sendromu'nda (DS) sık görülen doğumsal kalp hastalıkları (DKH) morbidite ve mortaliteyi etkilediğinden erken tanı ve tedavisi önem taşımaktadır. Bu çalışmada DS'lu çocuklardaki doğumsal kalp hastalığı sıklığı, tipi ve klinik değerlendirilmesi ve sonuçların literatür bulguları ile karşılaştırılması amaçlandı. Yöntem:Bir yıllık periyodda pediatrik kardiyoloji bölümünde DS tanısı olan 170 olgu değerlendirildi. Olguların 91’i (% 53,5) kız, 79’u (% 46,4) erkek idi ve yaşları 1 ay ile 14,7 yıl arasında değişmekteydi (ortalama ± SS = 4,6±4,3 yıl). Tüm hastaların kardiyolojik muayeneleri, elektrokardiyografi, telekardiyografi değerlendirmeleri ve ekokardiyografileri pediatrik kardiyoloji bölümü tarafından yapıldı. Yaş, cinsiyet, klinik bulgular, anne yaşı, kalp defektinin tipi ve genetik analiz sonuçları kaydedildi. Bulgular: DS’lu 90 (% 52,9) hastada DKH vardı. 22’sinde (% 38,8) izole ventriküler septal defekt, 19'unda (% 24,4) atriyoventriküler septal defekt, 17'sinde ( % 22,2) izole atriyal septal defekt, 3'ünde (% 3,3) izole patent ductus arteriyosus saptandı. Diğerlerinde, 1 hastada fallot tetralojisi, 1 hastada büyük arter transpozisyonu, 3 hastada çift çıkışlı sağ ventrikül ve diğer beş hastanın 2’si patent foramen ovale ve 3’ü MVP vardı. Çalışma süresince olguların çoğu DKH bağlı ve/veya eşlik eden sepsis nedeniyle 5 hasta (% 21) kaybedildi. Regüler tip trizomilerde DKH sıklığı anlamlı idi. Annelerin % 72,4’nün 35 yaş altında olması ilginç bir sonuçtu. Çalışmaya alınan hastaların 91'nin (% 53,5) fizik muayene bulguları normalken, 79’unda (% 46,4) üfürüm, ek ses veya kalp anomalisini düşündürecek bulgular vardı. Ekokardiyografik olarak değerlendirildiğinde fizik muayeneleri normal olan 11 (% 6,5) olguda, patolojik muayene bulguları olanların ise hepsinde DKH bulundu. Sonuç: Erken tanı ve DKH tedavisi, DS çocuklarda prognozu ve yaşam kalitesini etkileyen önemli bir faktördür. Çalışmamız DS’lu tüm çocukların ayrıntılı kardiyak inceleme yapılması gerekliliğini desteklemektedir.

Evaluation of the frequency of congenital heart disease and echocardiograph signs in Down syndrome

Objective: Early diagnosis and management of congenital heart diseases (CHD) which are common in Down Syndrome (DS), is important, since these disease effect morbidity and mortality. Our purpose was to investigate the rate, type, and clinical features of congenital heart diseases (CHD) encountered in Down Syndrome (DS), and to compare our result with the literature. Methods: In this study, 170 patients (91 female, 79 male), diagnosed with Down syndrome, who admitted to our hospital of cardiology department, in 1 year period, were included. Their ages were between 1 month and 14.7 yrs (mean ± SD = 4.6 ± 4.3 yrs). Cardiac examinations of all patients were performed by pediatric cardiology department. Age, sex, clinical features, maternal age, type of cardiac defect and genetic analysis results were recorded. Results: In 90 DS, patients with CHD, primarily VSD in 35 patients (38.8%), AVSD in 22 patients (24.4%), ASD in 20 patients (22.2%), and PDA in 3 patients was found. The others, Tetralogy of Fallot in one patient, TGA in one patient, and DORV in 3 patients. Two of the remaining 5 patients had patent foramen ovale and 3 had MVP. During the study, 5 patients (21%) died mostly due to CHD and/or accompanying sepsis. Rate of CHD was significantly higher in regular type trisomies. It is interesting that the mothers under 35 yrs of age were 72.4% in this study. While physical examination of 91 (53.5%) patients were normal, 79 (46.4%) had murmurs, additional heart sounds and findings indicating congenital heart disease. When evaluated according to echocardiograms, CHD was found in 11 patients (6.5%) with normal physical examination, and all of the patients with pathological examinations. Conclusion: Early diagnosis and management is important, as it influences prognosis and life quality of children with DS. We may suggest that all of the children with DS must have a comprehensive cardiac investigation.

PDF

___

1. Wiedeman HR, Kunze J. Clinical Syndromes, 3rd ed. London; Mirror International Publisher Limited,1997:49.
2. Vogel F, Motulsky AG. Human Genetics: Problem and Approaches, 3rd ed. Berlin; Springer,1997: 44-7.
3. Lau TK, Fung HYM, Rogers MS, Cheung KL. Racial variation in incidence of Trysomy 21. Am J Med Genet 1998;75:386-88.
4. Epstein CS. Down syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D. The Metabolic and Molecular Basis of Inherited Disease. CD-Rom,7th ed. McGraw- Hill Companies, 1997.
5. Khoury MJ, Erickson DJ. Improved ascertainment of cardiovascular malformations in infants with Down’s syndrome, Atlanta 1968 through 1989. Am J Epidemiol, 1992; 136: 1457-64.
6. Colomb D, Vittori F, Zonca C. Les manifestations cutanees de la trisomie 21. Sem Hop Paris 1977; 53: 801.
7. Thaddeus E. Kelley MD.Autosomal Chrosomal Abnormalities In: Clinical Genetics and genetic Counseling 2nd ed. Year Book Medical Publishers, Inc. Chicago, London, pp: 81-122,1986.
8. Lubec G, Engidawork E. The brain in Down syndrome. J Neurol 2002; 249:1347-56.
9. Lund J, Munk-Jorgensen P. Phychiatric aspects of Down syndrome. Acta Psychiatry Scand 1988; 78:369.
10. Buchin PJ, Levy JS, Schullinger JN. Down’s syndrome and gastrointestinal tract. J Clin Gastroenterol 1986; 8:111-4.
11. Torfs CP, Christianson RE. Anomalies in Down syndrome individuals in a large population-based registry. Am J Med Genet 1998; 77:431-8.
12. Kallén B, Mastroiacova P, Robert E. Major congenital malformations in Down syndrome. Am J Med Genet 1996; 65:160-6.
13. Jones KL. Smith’s Recognizable Patterns of Human Malformation, 5th ed. Philadelphia, London; WB. Saunders Company, 1997:8-10.
14. Castilla EE, Rittler M, Dutra MG, Lopez-Camelo JS, Campana E, Paz JE et al. Survival of children with Down syndrome in South America. Am J Med Genet 1998; 79:108-11.
15. Reller MD, Morris CD. Is Down syndrome a risk factor for poor outcome after repair of congenital heart disease? J Pediatr 1998; 132: 738-41.
16. Alan EH, Emery P. Congenital Heart defects (eds). Virginia V. Michels Vincent M. Ricardi Principles and partice of medical genetics 1990; 2:1207-37.
17. Lin AE, Herring AH, Amstutz KS, Wesgate MN, Lacro RV, Al-Jufan M, et al. Cardiovascular malformation: changes in prevalance and birth status, 1972-1990. Am J Med Genet 1999;84: 02-10.
18. Samanek M.Congenital heart disease among 815.569 children born between 1980 and 1990 and their 15-year survival: A prospective bohemia survival study. Pediatr Cardiol 1999; 20:411-7.
19. Figueroa J. R, Magana B. P, Hach JL P, Jimenez C.C, Jimenez C. C, et al. Heart malfomations in children with Down syndrome. Rev Esp Cardiol. 2003 Sep; 56(9):894-9.
20. Paladini D, Tartaglione A, Agangi A, Teodora A, Forleo F, Borghese A, et al. The association between congenital heart disease and Down syndrome in prenatal life. Ultrasound Obstet Gynecol. 2004 Feb; 15(2):104-8.
21. Barlow GM, Chen XN, Shi ZY, Lyons G, Kurnit DM, Celle L, et al. Down syndrome congenital heart disease: A narrowed region and a candidate gene. Gen Med 2001; 3:91-101.
22. Allen D. H, Gutgesel P. H, Clark B. E, Driscoll J. D. (edited by ) Moss and Adams’ Heart Disease in İnfants, Children, and Adolescents .6th edition Volum One 618-24.
23. Hayes C, Johnson Z, Thrornton L, Fogarty J, Lyons R, et al. Ten year survival of Down syndrome biths. Int J Epidemiol 1997; 4:822-29.
24. Granzotti JA, Paneto IL, Amaral FT, Nunes MA. Incidence of heart defects in Down syndrome. J Pediatr (Rio J). 1995; 71:28-30.
25. Freeman SB, Taft LF, Dooley KJ, Allran K, et al. Population-based study of congenital heart defects in Down syndrome. Am J Med Genet 1998, 80:213-7.
26. Richard E, Behrman MD, Robert M, Kliegman MD, Hal B, Jenson MD. Nelson Textbook of Pediatrics, 17th Edition, 384-6, 2004.
27. Kava MP, Tullu MS, Muranjan MN, Girisha KM. Down syndrome: clinical profile from India. Arch Med Res. 2004; 35: 31-5.
28. McElhinney DB, Straka M,Goldmuntz E, Zackai E. Correlation between abnormal cardiac physical examination and echocardiographic findigs in neonates with Down syndrome. Am J Med Genet. 2002;113:238-41.
29. Ghaffar S, Lember MS, Fixler DE, Ramaciotti C. Trisomy 21 and congenital heart disease: effect of timing of initial echocardiogram. Clin Pediatr 2005; 44:39-42.
30. Atalay S, Balcı S, Özkutlu S, Erçal M.D, Özme Ş. Yüz Down sendromlu vakada konjenital kalp hastalığının sıklığı ve ekokardiyografik değerlendirilmesi. Çocuk Sağlığı ve Hastalıkları Dergisi 1991;34: 33-39.
31. Öztürk B. Down sendromu’nda konjenital kalp hastalığı: 566 hastada prevalansı ve prognozu etkileyen faktörlerin incelenmesi. Uzmanlık Tezi. İstanbul, 2001:26-48.
32. Tubman TR, Shields MD, Craig B, Mulholland HC, Nevin HC. Congenital heart disease in Down syndrome: Two year prospective early screenig study. British Med J. 1991; 302:1425-27.
33. Venugopalan P, Agarwal AK. Spectrum of congenital heart defects associated with Down syndrome in high consanguineous Omani population. Indian Pediatr. 2003; 40:398-403.
34. Bendayan I, Casaldáliga J, Fuster M, Sánchez C, Sanchez G, Girona C, Gonçalvez A. Evolution of a group of 265 Down syndrome children, most of which had congenital heart disease. SD-DS Revista Medica Internacional sobre el Sindrome de Down 2001; 5: 34-40.
35. Stoll C, Alembik Y, Dott B, Roth MP. Study of Down syndrome in 238,942 consecutive births. Ann Genet 1998; 41:44-51.
36. Wells GL, Barker SE, Finley SC, Colvin EV, Finley WH. Congenital heart disease in infants with Down’s syndrome. Saudi Med J. 1994; 87:724-7.
37. Malec E, Mroczek T, Pajak J, Januszewska K, Zdebska E. Results of surgical treatment of congenital heart disease in children with Down’s syndrome. Pediatr Cardiol 1999; 20:351-4.
38. 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 of newborn. J Perinat Med. 2004; 32:168-70.
39. Kabbani MS, Giridhar S, Elbarbary M, Elgamal MA, Najm H, Godman M. Postoperative cardiac intensive care outcome for Down syndrome children. Saudi Med J 2005; 26: 943-76.
40. Kava MP, Tullu MS, Muranjan MN, Girisha KM. Down syndrome: clinical profile from India. Arch Med Res. 2004; 35:31-5.
41. Bower C, Ramsay JM. Congenital heart disease: a 10-year cohort. J Pediatr Child Health 1994; 30: 414-8.
42. Narchi H. Neonatal ECG screenig for congenital heart disease in Down syndrome. Ann Trop Pediatr 1999; 19:51-4.
43. Masuda M, Kado H, Tanoue Y, Fukae K, Onzuka T, Shiokawa Y, et al. Does Down syndrome affect the long term result of complete atrioventriculer septal defect when the defect is repaired during the first year of life?. Eur J Cardiothorac Surg 2005; 27:405-9.