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Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country

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Abstract

Limited data are available on the survival of patients with Down syndrome and congenital heart disease (CHD) from middle-income countries. This retrospective cohort study was performed to determine the trends in the prevalence and survival of such patients born from January 2006 to December 2015 in Malaysia. Among 754 patients with Down syndrome, 414 (55%) had CHD, and no significant trend was observed during the 10 years. Of these 414 patients, 30% had lesions that closed spontaneously, 35% underwent surgery/intervention, 9% died before surgery/intervention, and 10% were treated with comfort care. The overall mortality rate was 23%, the median age at death was 7.6 months, and no significant changes occurred over time. The early and late post-surgery/intervention mortality rates were 0.7% and 9.0%, respectively. Most deaths were of non-cardiac causes. The overall 1-, 5-, and 10-year survival rates were 85.5%, 74.6%, and 72.9%, respectively. Patients with severe lesions, persistent pulmonary hypertension of the newborn, atrioventricular septal defect, and pulmonary hypertension had low survival at 1 year of age.

Conclusion: The prevalence of CHD in patients with Down syndrome is similar between Malaysia and high-income countries. The lower survival rate is attributed to limited expertise and resources which limit timely surgery.

What is Known:

• The survival of patients with Down syndrome with congenital heart disease (CHD) has improved in high-income countries. However, little is known about the survival of patients with Down syndrome with CHD from middle-income countries.

• In the Caucasian population, atrioventricular septal defect is the most common type of CHD associated with Down syndrome.

What is New:

• In middle-income countries, the prevalence of CHD is the same as in high-income countries, but with a lower survival rate.

• In the Asian population, ventricular septal defect is the most common type of CHD in patients with Down syndrome.

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Abbreviations

ASD:

Atrial septal defect

AVSD:

Atrioventricular septal defect

CHD:

Congenital heart disease

CI:

Confidence interval

HSAJB:

Hospital Sultanah Aminah Johor Bahru

IQR:

Interquartile range

LMICs:

Low- and middle-income countries

PDA:

Patent ductus arteriosus

PHT:

Pulmonary hypertension

PPHN:

Persistent pulmonary hypertension of the newborn

PS:

Pulmonary stenosis

UMMC:

University Malaya Medical Centre

VSD:

Ventricular septal defect

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Acknowledgments

We would like to acknowledge all the staff in the pediatric cardiology and genetic departments of the University Malaya Medical Centre and Hospital Sultanah Aminah Johor Bahru, Clinical Research Centre HSAJB, for their help in the data collection. We also thank the Director General of Health Malaysia for his permission to publish this article. Finally, we thank Angela Morben, DVM, ELS, from Edanz Group (www.edanzediting.com/ac), for editing a draft of this manuscript.

Author information

Authors and Affiliations

  1. Department of Pediatrics, Faculty of Medicine, University of Malaya, Jalan Universiti, 50603, Kuala Lumpur, Malaysia

    Norazah Zahari & Meow-Keong Thong

  2. Department of Pediatrics, Hospital Sultanah Aminah Johor Bahru, Ministry of Health Malaysia, Johor Bahru, Johor, Malaysia

    Mohd Nizam Mat Bah & Hasliza A. Razak

Authors
  1. Norazah Zahari
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  2. Mohd Nizam Mat Bah
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Contributions

Dr. HR was involved in data entry and analysis and drafted the initial manuscript.

Dr. NZ conceptualized and designed the study, carried out the echocardiogram, and revised the manuscript.

Dr. MNMB conceptualized and designed the study, carried out the echocardiogram, analyzed the data, and revised the manuscript.

Prof TMK reviewed the manuscript for important intellectual content and revised the manuscript.

All authors approved the final manuscript as submitted and agree to be accountable for all the aspects of the work.

Corresponding author

Correspondence to Norazah Zahari.

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Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the clinical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. The study was approved by the Medical Research and Ethics Committee of Ministry of Health Malaysia (NMRR-17-957-35260(IIR)) and University Malaya Medical Centre (MREC ID NO: 201723-4886).

Additional information

Communicated by Peter de Winter

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Zahari, N., Mat Bah, M.N., A. Razak, H. et al. Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country. Eur J Pediatr 178, 1267–1274 (2019). https://doi.org/10.1007/s00431-019-03403-x

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  • DOI: https://doi.org/10.1007/s00431-019-03403-x

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