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Amaç: Down sendromlu hastalarda karakteristik fiziksel bulgulara nöro-gelişimsel gerilik, gastrointestinal ve endokrinolojik bozukluklar eşlik etmekle birlikte, en sık görülen malformasyon doğumsal kalp hastalıklarıdır. Down sendromunda, genellikle endokardiyal yastıkçıkların gelişim bozukluğu nedeniyle, kalp ve büyük damarların doğuştan anomalilerine sağlıklı toplumdan daha sık rastlanır. Bu çalışmanın amacı, çocuk kardiyolojisi polikliniğine müracaat eden Down sendromlu hastalardaki doğumsal kalp hastalıklarını belirlemektir. Yöntem: Retrospektif olarak yapılan çalışmaya Mart 2012- Temmuz 2017 tarihleri arasında polikliniğimizde Down sendromu tanısı ile başvurmuş, yaş ortalaması 5.8±4.7 olan 184 hasta (85 erkek,99 kız) dahil edildi. Hastaların ekokardiyografik bulguları değerlendirildi. Bulgular: Down sendromlu hastalardan 151’inde (%82.1) doğumsal kalp hastalığı saptandı. Bu hastalardan 45’inin (%24.5) kardiyak sistem muayenesi normal olarak değerlendirilmişti. Doğumsal kalp hastalıklarından ilk sırada görülen 48 hasta (%26.1) ile atrioventriküler septal defekt idi. Bu anomaliyi ventriküler septal defekt (n=46 %25.1), atrial septal defekt (n=21 %11.4), mitral yetmezlik (n=6 %3.2), patent duktus arteriosus (n=4 %2.1) ve Fallot tetralojisi (n=4 %2,1)’nin izlediği belirlendi. Atrioventriküler septal defektlerin en sık görülen şekli komplet formu (n=40 %83.4) idi. Tanı bakımından cinsiyetler arasında anlamlı fark yoktu. Hastaların 28’inde (%15.2) perikardiyal effüzyon izlendi. Sekiz hastada ekokardiyografik bulgular normal olmasına rağmen effüzyon vardı. Sonuç: Kliniğimize başvuran Down sendromlu hastalarda doğumsal kalp hastalığı sıklığı oldukça yüksekti. Bu durum sadece kardiyolojiye yönlendirilen hastaların çalışmaya alınmış olmasına bağlandı. Hastalarda en sık görülen anomalilerin literatürle uyumlu olarak atrioventriküler septal defekt ve ventriküler septal defekt olduğu belirlendi. Hastalarda perikardiyal effüzyon sıklığının yüksek olması ve kardiyak anomali olmayanlarda da saptanması bunun tamamen kalp yetmezliği ile ilişkili olmadığını düşündürdü. Herhangi bir klinik bulgusu olmasa da, Down sendromlu hastalarda genel sağlık taramasının parçası olarak kalp incelemesi yapılması gerektiği kanısına varıldı.
Purpose: In patients with Down syndrome, characteristic physical findings are accompanied by neuro-developmental retardation, gastrointestinal and endocrinological disorders, but the common malformation is congenital heart disease. In Down syndrome, often due to endocardial disorders, birth abnormalities of the heart and large veins are more common than healthy communities. The aim of this study is to identify parental heart disease in patients with Down syndrome who interact with the child's cardiology clinic. Method: Retrospective study included 184 patients (85 men, 99 girls) with an average age of 5.8 ± 4.7 who were diagnosed with Down syndrome in our clinic between March 2012 and July 2017. The patient’s ecocardiographic findings were evaluated. Results: 151 patients with Down syndrome (82.1%) were diagnosed with parental heart disease. 45 of these patients (24.5 percent) were normally examined for cardiovascular system. The 48 patients (26.1 percent) with the first ranked in parental heart disease were atrioventricular septal defects. This anomaly was identified following ventricular septal defect (n=46; 25.1%), atrial septal defect (n=21; 11.4%), mitral deficiency (n=6; 3.2%), patent duktus arteriosus (n=4; 2.1%) and Fallot tetrology (n=4; 2.1%). The common form of atrioventricular septal defects was the complete form (n=40; 83.4 %). There was no significant difference between the gender in the diagnosis. In 28 patients (15.2%) pericardial effusion was observed. In eight patients, although the ecocardiographic findings were normal, there was an effusion. The result: Patients with Down syndrome who appeared to our clinic had a very high frequency of infarctional heart disease. This condition was linked to the fact that only patients directed to cardiology were taken to study. The anomalies observed in patients were identified as atrioventricular septal defect and ventricular septal defect in accordance with the literature. The high frequency of pericardial effusion in patients and the detection in non-cardiological anomalies suggested that this was not entirely associated with heart failure. Although there were no clinical findings, it was found that patients with Down syndrome should be carried out a heart examination as part of a general health examination.
Aim: In Down syndrome, characteristic physical findings are accompanied by neurodevelopmental retardation, gastrointestinal and endocrine disorders. However, the most common malformation is the congenital heart diseases due to the impaired development of the endocardial cushions. The aim of this study was to determine the congenital heart diseases in patients with Down syndrome applying to the department of pediatric cardiology at the study center. Methods: This is a retrospective review of 184 children (85 males and 99 females) with Down syndrome who were admitted to the study center between March 2012 and July2017. The mean age of the patients was 5.8±4.7 years. Echocardiographic findings of the patients were evaluated. Results: Congenital heart diseases were detected in 151(82.1%) of the patients. Forty-five of these patients (24.5%) had normal cardiac system examination. Atrioventricular septal defect (n=48; 26.1%) was the most common congenital heart disease which was followed by ventricular septal defect (n=46; 25.1%), atrial septal defect (n=21; 11.4%), mitral regurgitation (n=6; 3.2%) and patent ductus arteriosus (n=4; 2.1%) respectively. The complete form of atrioventricular septal defect was the most common subgroup (n=40; 83.4%). There was no difference between male and female children in aspect of congenital heart diseases. Pericardial effusion was observed in 28(15.2%) of the patients. Effusion was found in eight patients, although there was no other echocardiographical abnormality. Conclusion: The incidence of congenital heart diseases in patients with Down syndrome was quite high in this study. This finding was attributed to the sole inclusion of the patients who were referred to the department of pediatric cardiology. Complying with literature, the most commonly observed anomalies in the cohort were atrioventricular septal defect and ventricular septal defect. It was thought that cardiac examination should be performed in patients with Down syndrome as a screening test even if there is not clinical finding.
Alan : Sağlık Bilimleri
Dergi Türü : Ulusal
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