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

Year 2019, Volume: 16 Issue: 1, 63 - 69, 22.03.2019

Okan Yıldız , Erkut Öztürk , Onur Şen , Sertaç Haydin

Abstract

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.

Keywords

Sendrom, Konjenital Kalp hastalığı, çocuk

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

Abstract

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 

Keywords

Syndrome, Congenital Heart Disease, child

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