Congenital heart diseases in patients with down syndrome: A five-year retrospective analysis in a single center
Abstract
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.
References
- 1. Wiedeman HR, Kunze J. Clinical Syndromes. 3rd ed. London: Mirror International Publisher Limited; 1997. P.49.
- 2. Vogel F, Motulsky AG. Human Genetics: Problem and Approaches. 3rd ed. Germany: Springer-Berlin Heidelberg; 1997. P.44-47.
- 3. Lau TK, Fung HYM, Rogers MS, Cheung KL. Racial variation in incidence of Trysomy 21. Am J Med Genet. 1998; 75: 386-388.
- 4. Barlow GM, Chen XN, Shi ZY et al. Down syndrome congenital heart disease: A narrowed region and a candidate gene. Gen Med. 2001; 3: 91-101.
- 5. Reller MD, Morris CD. Is Down syndrome a risk factor for poor outcome after repair of congenital heart disease? J Pediatr. 1998; 132: 738-741.
- 6. Irving CA, Chaudhari MP. Cardiovascular abnormalities in Down's syndrome: spectrum, management and survival over 22 years. Arch Dis Child. 2012; 97: 326-330.
- 7. Freeman SB, Bean LH, Allen EG et al. Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med. 2008; 10: 173-180.
- 8. Freeman SB, Taft LF, Dooley KJ et al. Population based study of congenital heart defects in Down syndrome. Am J Med Genet. 1998; 80: 213-217.
Abstract
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.
References
- 1. Wiedeman HR, Kunze J. Clinical Syndromes. 3rd ed. London: Mirror International Publisher Limited; 1997. P.49.
- 2. Vogel F, Motulsky AG. Human Genetics: Problem and Approaches. 3rd ed. Germany: Springer-Berlin Heidelberg; 1997. P.44-47.
- 3. Lau TK, Fung HYM, Rogers MS, Cheung KL. Racial variation in incidence of Trysomy 21. Am J Med Genet. 1998; 75: 386-388.
- 4. Barlow GM, Chen XN, Shi ZY et al. Down syndrome congenital heart disease: A narrowed region and a candidate gene. Gen Med. 2001; 3: 91-101.
- 5. Reller MD, Morris CD. Is Down syndrome a risk factor for poor outcome after repair of congenital heart disease? J Pediatr. 1998; 132: 738-741.
- 6. Irving CA, Chaudhari MP. Cardiovascular abnormalities in Down's syndrome: spectrum, management and survival over 22 years. Arch Dis Child. 2012; 97: 326-330.
- 7. Freeman SB, Bean LH, Allen EG et al. Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med. 2008; 10: 173-180.
- 8. Freeman SB, Taft LF, Dooley KJ et al. Population based study of congenital heart defects in Down syndrome. Am J Med Genet. 1998; 80: 213-217.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Articles |
| Authors | |
| Publication Date | December 31, 2019 |
| Submission Date | March 8, 2019 |
| Acceptance Date | November 7, 2019 |
| Published in Issue | Year 2019 Volume: 12 Issue: 3 |
Cite
MEU Journal of Health Sciences Assoc was began to the publishing process in 2008 under the supervision of Assoc. Prof. Gönül Aslan, Editor-in-Chief, and affiliated to Mersin University Institute of Health Sciences. In March 2015, Prof. Dr. Caferi Tayyar Şaşmaz undertook the Editor-in Chief position and since then he has been in charge.
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