Genetik Durum Varlığı ile Konjenital Kalp Hastalıkları Birlikteliği: Cerrahi Sonuçlar Nasıl Etkilenir?

GİRİŞ ve AMAÇ: Bu çalışmada, konjenital kalp hastalığı nedeniyle opere edilen olgularda genetik durumların sıklığı ile genetik durumların mortalite ve morbidite üzerine etkisinin değerlendirilmesi amaçlandı.YÖNTEM ve GEREÇLER: Kalp cerrahisi merkezimizde opere edilen olguların tıbbi verileri geriye dönük olarak dosya bilgilerine göre incelendi. Olgular, genetik test sonuçları veya fenotipe göre sendromik ve herhangi bir sendromu olmayan (nonsendromik) şeklinde iki ana kategoriye ayrıldı. Cerrahi sonuçları skorlama sistemleri ile değerlendirildi. Birincil sonlanım noktası olarak mortalite ( operasyondan sonra < 30 gün içinde) ve morbidite(>7 gün yoğun bakım yatışı) kabul edildi.BULGULAR: Çalışmaya 1 Ocak 2013- 1 Ocak 2018 tarihleri arasında opere edilen 2330 olgu dahil edildi. Olguların median yaşı ve ağırlığı 6,5 ay (aralık 1 gün-18 yaş) ve 7,2 kg (1-80 kg) idi. %55’i (n=1285) erkek idi. Olguların %20’si <1 ay ve %58’i <1 yaş idi. Olguların %15‘inde (n=344) tanımlanmış bir genetik sendrom [Down sendromu (n=207), Di George Sendromu (n=38) ve diğer genetik sendrom (n=99) ] vardı. Total mortalite %6,9 (n=160)(2017 yılı %4) bulundu. Alt gruplarda mortalite ise nonsendromiklerde %6,6; Down sendromunda %7,2; Di George sendromunda %13,1, diğerlerinde %8 idi. Yalnızca Di George Sendromunda mortalite istatistiksel olarak anlamlı yüksekti (p=0.04). Total morbidite %26,2 (n=601) bulundu. Alt gruplarda morbidite ise nonsendromiklerde %25,6; Down sendromunda %26,1; Di George sendromunda %42,1, diğerlerinde %33,3 idi. Di George Sendromu ve diğer sendrom grubunda morbidite istatistiksel olarak anlamlı yüksekti (p=0.02). TARTIŞMA ve SONUÇ: Sendrom varlığı uzun yoğun bakım yatış gereksinimi nedeniyle morbiditeyi arttırmakta ancak mortalite oranlarını etkilememektedir. Bunda gelişmiş yoğun bakım koşullarının etkisi büyüktür. Genetik sendrom varlığına sahip konjenital kalp hastalarının uygun yönetimi nihai sonuçlarını iyileştirmeye yardımcı olacaktır.

Congenital Heart Diseases in association with genetic abnormalities: How are the surgical results?

Background: The aim of the study was to evaluate the incidence of genetic abnormalities in operated congenital heart disease patients and the influence of underlying genetic issues on morbidity and mortality of these patients.METHODS: The medical records of the operated patients at our cardiac center were evaluated retrospectively.Patients were evaluated as syndromic or nonsyndromic(without any syndrome) according to their genetic test results or phenotypes.The surgical results were evaluted by scoring systems.The primary end points were accepted as mortality(in the first postoperative30 days) and morbidity (>7days of ICU monitorization). RESULTS: 2330 patients operated between 01.01.2013 and 01.01.2018 were included in the study. The median age and body weight were 6.5 months(range: 1 day-18 years) and 7.2 kg(1-80 kg) respectively.55% were males(n=1285), 20% were <1 month old,58% were <1 year of age.A defined genetic syndrome was present in 15%(n=344)(Down syndrome(n=207),DiGeorge syndrome(n=38) and another genetic syndrome(n=99).Overall mortality was 26.2%(n=601).Mortality in sugroups were 6.6% in nonsyndromics,7.2% in Down syndrome, 13.1% in Di George Syndrome respectively.Mortality was found significantly high in only Di George syndrome(p=0.04). Overall morbidity was 26.2%(n=601).Subgroup morbidities was 25.6% in nonsyndromic patients,26.1% in Down syndrome,42.1% in DiGeorge Syndrome,33.3% in other groups.Morbidity was significantly high in groups with Di George Syndrome and other syndromes groups(p=0.02).  DISCUSSION AND CONCLUSION: The presence of a syndrome causes an increase in morbidity due to prolonged ICU duration but does not effect the mortality rates.The advanced ICU care has a great effect on that.The proper management of patients with congenital heart disease and associated genetic syndrome will help to improve the ultimate results 

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  • Kaynaklar:
  • 1. Jacobs JP, Jacobs ML, Mavroudis C, Backer CL, Lacour- Gayet FG, Tchervenkov CI, et al. Nomenclature and databases for the surgical treatment of congenital cardiac disease--an updated primer and an analysis of opportunities for improvement. Cardiol Young 2008;18 Suppl 2:38-62.2. Jenkins KJ, Gauvreau K, Newburger JW, Spray TL, Moller JH, Iezzoni LI. Consensus-based method for risk adjustment for surgery for congenital heart disease. J Thorac Cardiovasc Surg 2002;123:110-8.3. Lacour-Gayet F, Clarke D, Jacobs J, Comas J, Daebritz S, Daenen W, et al. The Aristotle score: a complexity-adjusted method to evaluate surgical results. Eur J Cardiothorac Surg 2004;25:911-24.4. O’Brien SM, Clarke DR, Jacobs JP, Jacobs ML, Lacour- Gayet FG, Pizarro C, et al. An empirically based tool for analyzing mortality associated with congenital heart surgery. J Thorac Cardiovasc Surg 2009;138:1139-53.5. Yıldız O, Kasar, Ozturk E, Tuzun B, Altın HF, Onan IS, et al. Analysis of congenital heart surgery results: A comparison of four risk scoring systems. Turkish Journal of Thoracic and Cardiovascular Surgery 2018;26(2):200-206.6. Formigari R, Michielon G, Digilio MC, Piacentini G, Carotti A, Giardini A, et al. Genetic syndromes and congenital heart defects: how is surgical management affected? Eur J Cardiothorac Surg. 2009 Apr;35(4):606-14.7. Landis BJ, Cooper DS, Hinton RB. CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes. Cardiol Young. 2016 Jan;26(1):30-52.8. Ferencz C, Loffredo CA, Correa-Villasenor A, Magee CA. Categorization of cardiovascular malformations for risk factor analysis. In: Ferencz C, Loffredo CA, Correa-Villasenor A, Wilson PD, editors. Genetic and environmental risk factors of major cardiovascular malformation: the Baltimore-Washington study 1981—1989. Armonk, NY: Futura; 1997. p.13—28.9. Eskedal LT, Hagemo PS, Eskild A, Froslie KF, Seiler S, Thaulow E. A population-based study relevant to seasonal variations in causes of death in children undergoing surgery for congenital cardiac malformations. Cardiol Young 2007;17:423—31.10. Hornik CP, He X, Jacobs JP, Jaquiss RD, Jacobs ML, O'Brien SM, et al. Complications after the Norwood operation: an analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database. Ann Thorac Surg. 2011; 92:1734–1740.11. Patel A, Hickey E, Mavroudis C, Jacobs JP, Jacobs ML, Backer CL,et al. Impact of noncardiac congenital and genetic abnormalities on outcomes in hypoplastic left heart syndrome. Ann Thorac Surg. 2010; 89:1805–1813.12. Michielon G, Marino B, Oricchio G, Digilio MC, Iorio F, Filippelli S, et al. Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects. J Thorac Cardiovasc Surg. 2009; 138:565.e2–570.e2.13. Anaclerio S, Di Ciommo V, Michielon G, Digilio MC, Formigari R, Picchio FM,et al. Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality. Ital Heart J. 2004; 5:624–628.14. Barker GM, O'Brien SM, Welke KF, Jacobs ML, Jacobs JP, Benjamin DK Jr,et al. Major infection after pediatric cardiac surgery: a risk estimation model. Ann Thorac Surg. 2010 Mar;89(3):843-50.15. Doell C, Bernet V, Molinari L, Beck I, Balmer C, Latal B. Children with genetic disorders undergoing open-heart surgery: are they at increased risk for postoperative complications? Pediatr Crit Care Med. 2011; 12:539–544.16. Cocchi G, Gualdi S, Bower C, Halliday J, Jonsson B, Myrelid A,et al. International trends of Down syndrome 1993–2004: births in relation to maternal age and terminations of pregnancies. Birth Defects Res A Clin Mol Teratol. 2010; 88:474–479.17. Evans JM, Dharmar M, Meierhenry E, Marcin JP, Raff GW. Association between Down syndrome and in-hospital death among children undergoing surgery for congenital heart disease: a US population-based study. Circ Cardiovasc Qual Outcomes. 2014; 7:445–452.18. Seifert HA, Howard DL, Silber JH, Jobes DR. Female gender increases the risk of death during hospitalization for pediatric cardiac surgery. J Thorac Cardiovasc Surg. 2007; 133:668–675.19. Fudge JC Jr1, Li S, Jaggers J, O'Brien SM, Peterson ED, Jacobs JP. Congenital heart surgery outcomes in Down syndrome: analysis of a national clinical database. Pediatrics. 2010; 126:315–322.20. Al-Hay AA, MacNeill SJ, Yacoub M, Shore DF, Shinebourne EA. Complete atrioventricular septal defect, Down syndrome, and surgical outcome: risk factors. Ann Thorac Surg. 2003; 75:412–421.21. Morales-Demori R. Congenital heart disease and cardiac procedural outcomes in patients with trisomy 21 and Turner syndrome. Congenit Heart Dis. 2017 Dec;12(6):820-827.22. Goodship J, Cross I, LiLing J, Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child. 1998; 79:348–351.23. Marmon LM, Balsara RK, Chen R, Dunn JM. Congenital cardiac anomalies associated with the DiGeorge syndrome: a neonatal experience. Ann Thorac Surg. 1984; 38:146–150.24. McDonald R, Dodgen A, Goyal S, Gossett JM, Shinkawa T, Uppu SC,et al. Impact of 22q11.2 deletion on the postoperative course of children after cardiac surgery. Pediatr Cardiol. 2013 Feb;34(2):341-7.25. Joshi SS, Anthony G, Manasa D, Ashwini T, Jagadeesh AM, Borde DP, et al. Predicting mortality after congenital heart surgeries: Evaluation of the Aristotle and risk adjustment in congenital heart surgery-1 risk prediction scoring systems: A retrospective single centre analysis of 1150 patients. Ann Card Anaesth 2014:4:266-70.26. Bojan M, Gerelli S, Gioanni S, Pouard P, Vouhé P. Comparative study of the Aristotle Comprehensive Complexity and the Risk Adjustment in Congenital Heart Surgery scores. Ann Thorac Surg. 2011;92(3):949-56.
Harran Üniversitesi Tıp Fakültesi Dergisi-Cover
  • ISSN: 1304-9623
  • Yayın Aralığı: Yılda 3 Sayı
  • Başlangıç: 2004
  • Yayıncı: Harran Üniversitesi Tıp Fakültesi Dekanlığı
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