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Journals / Genel Tıp Dergisi / 2008 / Cilt: 18 - Sayı: 3

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

Down sendromunda konjenital kalp hastalığı sıklığının ve ekokardiyografik bulguların değerlendirilmesi

Aynur KUZUCU
Sadi VİDİNLİSAN
A. Esin KİBAR
FİLİZ EKİCİ
Nursel ALPAN
Hasan Tahsin ÇAKIR
Pages
105–110
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We may suggest that all of the children with DS must have a comprehensive cardiac investigation.

📌 3 Key Takeaways

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Objective & Hypothesis: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.
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Key Findings & Data: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.
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Conclusion & Impact:We may suggest that all of the children with DS must have a comprehensive cardiac investigation.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

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.

Özet

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.

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Cite This Article

KUZUCU, A., VİDİNLİSAN, S., KİBAR, A. E., EKİCİ, F., ALPAN, N., ÇAKIR, H. T. (2008). Evaluation of the frequency of congenital heart disease and echocardiograph signs in Down syndrome. Genel Tıp Dergisi, Cilt: 18 - Sayı: 3, 105–110. https://ajindex.com/articles/218360

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