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Congenital heart defects among Down syndrome patients: a clinical profiling

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Abstract

Aim

The incidence of Down syndrome (DS) has been estimated one case in 814 live births in Iranian population. Congenital heart defects (CHDs) are a major cause of morbidity and mortality in DS patients ranges from 40 to 60 %. To the author’s knowledge, there is no data available for the prevalence and types of CHD in patients with DS in south of Iran. Accordingly, this study aimed to determine the prevalence of CHD among DS patients, and to evaluate the 14 clinical features in DS patients with and without CHD.

Subjects and methods

In the current study, a total of 110 patients diagnosed with DS (55 individuals with CHD and 55 without CHD) were included after postnatal cytogenetic analysis. The demographic and clinical features of all subjects were collected using a precodified questionnaire and clinical examination and then were analyzed using SPSS software.

Results

We found that the atrial septal defect (ASD) was the most common defect accounting for 41.82 % of DS followed by patent ductus arteriosis (PDA) (20 %), ventricular septal defect (VSD; 14.54 %), atrioventricular septal defect (AVSD; 12.73 %) and tetralogy of fallot (TOF; 10.91 %) in our population. Indeed, our results showed that pulmonary hypertension and low set ear clinical manifestations were significantly associated with CHD in DS patients (P < 0.05).

Conclusion

We found that the ASD is the most common CHD seen in DS patients. In addition, our results add to the existing body of evidence that pulmonary hypertension significantly associated with CHD in DS patients. We believe this clinical profiling can become the baseline for intervention in reducing the mortality and morbidity secondary to CHD among DS in our population.

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References

  • Abbag FI (2006) Congenital heart diseases and other major anomalies in patients with Down syndrome. Saudi Med J 27:219–222

    PubMed  Google Scholar 

  • Al-Biltagi MA (2013) Echocardiography in children with Down syndrome. World J Clin Pediatr 2:36–45

    Article  PubMed  PubMed Central  Google Scholar 

  • Ali SK (2009) Cardiac abnormalities of Sudanese patients with Down’s syndrome and their short-term outcome. Cardiovasc J Afr 20:112–115

    CAS  PubMed  Google Scholar 

  • Asani M, Aliyu I, Also U (2013) Pattern of congenital heart diseases among children with Down syndrome seen in Aminu Kano Teaching Hospital Kano, Nigeria. Niger J Basic Clin Sci 10:57–59

    Article  Google Scholar 

  • Barlow GM, Chen XN, Shi ZY, Lyons GE, Kurnit DM, Celle L, Spinner NB, Zackai E, Pettenati MJ, Van Riper AJ, Vekemans MJ, Mjaatvedt CH, Korenberg JR (2001) Down syndrome congenital heart disease: a narrowed region and a candidate gene. Genet Med 3:91–101

    Article  CAS  PubMed  Google Scholar 

  • Busacca P, Pozzolini A, Minutiello L (1998) Association between parachute mitral valve and Down’s syndrome: report of a case. G Ital Cardiol 28:1144–1148

    CAS  PubMed  Google Scholar 

  • Castilla EE, Rittler M, Dutra MG, Lopez-Camelo JS, Campaña H, Paz JE, Orioli IM (1998) Survival of children with Down syndrome in South America. ECLAMC-Downsurv Group. Latin American Collaborative Study of Congenital Malformations. Am J Med Genet 79:108–111

    Article  CAS  PubMed  Google Scholar 

  • Cua CL, Blankenship A, North AL, Hayes J, Nelin LD (2007) Increased incidence of idiopathic persistent pulmonary hypertension in Down syndrome neonates. Pediatr Cardiol 28:250–254

    Article  CAS  PubMed  Google Scholar 

  • de Carvalho TD, de Abreu LC, Mustacchi Z, Vanderlei LC, Godoy MF, Raimundo RD, Ferreira Filho C, da Silva TD, Guilhoto L, Perico V, Finotti VR, Ferreira C (2015) Cardiac autonomic modulation of children with Down syndrome. Pediatr Cardiol 36:344–349

    Article  PubMed  Google Scholar 

  • de Rubens Figueroa J, del Pozzo Magaña B, Pablos Hach JL, Calderón Jiménez C, Castrejón Urbina R (2003) Heart malformations in children with Down syndrome. Rev Esp Cardiol 56:894–899

    Article  PubMed  Google Scholar 

  • Elmagrpy Z, Rayani A, Shah A, Habas E, Aburawi EH (2011) Down syndrome and congenital heart disease: why the regional difference as observed in the Libyan experience? Cardiovasc J Afr 22:306–309

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Farshbaf Khalili A, Shahnazi M, Hajizadeh K, Shekari Khaniani M (2012) Down syndrome screening methods in Iranian pregnant women. J Caring Sci 1:145–151

    PubMed  PubMed Central  Google Scholar 

  • Freeman SB, Taft LF, Dooley KJ, Allran K, Sherman SL, Hassold TJ, Khoury MJ, Saker DM (1998) Population-based study of congenital heart defects in Down syndrome. Am J Med Genet 80:213–217

    Article  CAS  PubMed  Google Scholar 

  • Hoffman JI, Kaplan S (2002) The incidence of congenital heart disease. J Am Coll Cardiol 39:1890–1900

    Article  PubMed  Google Scholar 

  • Jacobs EG, Leung MP, Karlberg J (2000) Distribution of symptomatic congenital heart disease in Hong Kong. Pediatr Cardiol 21:148–157

    Article  CAS  PubMed  Google Scholar 

  • Kallen B, Mastroiacovo P, Robert E (1996) Major congenital malformations in Down syndrome. Am J Med Genet 65:160–166

    Article  CAS  PubMed  Google Scholar 

  • Karadeniz C, Ozdemir R, Demir F, Yozgat Y, Küçük M, Oner T, Karaarslan U, Meşe T, Unal N (2014) Increased P-wave and QT dispersions necessitate long-term follow-up evaluation of Down syndrome patients with congenitally normal hearts. Pediatr Cardiol 35:1344–1348

    Article  PubMed  Google Scholar 

  • Kava MP, Tullu MS, Muranjan MN, Girisha KM (2004) Down syndrome: clinical profile from India. Arch Med Res 35:31–35

    Article  PubMed  Google Scholar 

  • Kim MA, Lee YS, Yee NH, Choi JS, Choi JY, Seo K (2014) Prevalence of congenital heart defects associated with Down syndrome in Korea. J Korean Med Sci 29:1544–1549

    Article  PubMed  PubMed Central  Google Scholar 

  • Lo NS, Leung PM, Lau KC, Yeung CY (1989) Congenital cardiovascular malformations in Chinese children with Down’s syndrome. Chin Med J 102:382–386

    CAS  PubMed  Google Scholar 

  • Malec E, Mroczek T, Pajak J, Januszewska K, Zdebska E (1999) Results of surgical treatment of congenital heart defects in children with Down’s syndrome. Pediatr Cardiol 20:351–354

    Article  CAS  PubMed  Google Scholar 

  • Malt EA, Dahl RC, Haugsand TM, Ulvestad IH, Emilsen NM, Hansen B, Cardenas YE, Skøld RO, Thorsen AT, Davidsen EM (2013) Health and disease in adults with Down syndrome. Tidsskr Nor Laegeforen 133:290–294

    Article  PubMed  Google Scholar 

  • Mehdipour P, Saaadat M, Noori-daloii M (1996) Down syndrome: cytogenetic studies in 150 cases in Tehran. Med J Islam Repub Iran 10:47–52

    Google Scholar 

  • Mottaghi Moghaddam H, Nezafati M, Sheykhian T, Dadgarmoghaddam M (2015) Clinical outcome in Down syndrome children with congenital heart disease. BJMMR 7:309–317

    Article  Google Scholar 

  • Oster ME, Riehle-Colarusso T, Simeone RM, Gurvitz M, Kaltman JR, McConnell M, Rosenthal GL, Honein MA (2013) Public health science agenda for congenital heart defects: report from a Centers for Disease Control and Prevention experts meeting. J Am Heart Assoc 2:e000256

    Article  PubMed  PubMed Central  Google Scholar 

  • Placidi S, Digilio MC, Marino B (2006) Types of cardiac defects in children with Down’s syndrome. Cardiol Young 16:198–199

    Article  PubMed  Google Scholar 

  • Sailani MR, Makrythanasis P, Valsesia A et al (2013) The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. Genome Res 23:1410–1421

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Shah PS, Hellmann J, Adatia I (2004) Clinical characteristics and follow up of Down syndrome infants without congenital heart disease who presented with persistent pulmonary hypertension of newborn. J Perinat Med 32:168–170

    Article  PubMed  Google Scholar 

  • Shrestha M, Shakya U (2013) Down syndrome and congenital heart disease: single centre, prospective study. NJMS 2:96–101

    Google Scholar 

  • Tumanyan MR, Filaretova OV, Chechneva VV, Gulasaryan RS, Butrim IV, Bockeria LA (2014) Repair of complete atrioventricular septal defect in infants with Down syndrome: outcomes and long-term results. Pediatr Cardiol 36:71–75

    Article  PubMed  Google Scholar 

  • Vida VL, Barnoya J, Larrazabal LA, Gaitan G, de Maria Garcia F, Castañeda AR (2005) Congenital cardiac disease in children with Down’s syndrome in Guatemala. Cardiol Young 15:286–290

    Article  PubMed  Google Scholar 

  • Vis JC, Duffels MG, Winter MM, Weijerman ME, Cobben JM, Huisman SA, Mulder BJ (2009) Down syndrome: a cardiovascular perspective. J Intellect Disabil Res 53:419–425

    Article  CAS  PubMed  Google Scholar 

  • Weijerman ME, van Furth AM, van der Mooren MD, van Weissenbruch MM, Rammeloo L, Broers CJ, Gemke RJ (2010) Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome. Eur J Pediatr 169:1195–1199

    Article  PubMed  PubMed Central  Google Scholar 

  • Yun SW (2011) Congenital heart disease in the newborn requiring early intervention. Korean J Pediatr 54:183–191

    Article  PubMed  PubMed Central  Google Scholar 

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Acknowledgements

The authors would like to express sincerest appreciation and thanks to all the subjects for participation, cooperation and assistance in this study.

Authors’ contributions

The research design was developed by all authors. A. Poursadegh, N. Ahangari, M. Akbarzadeh, S. Rajaie and A. Nejatizadeh recruited participants and collected data. Data analysis was conducted by Ahmad Poursadegh Zonouzi and Ali Akbar Poursadegh Zonouzi drafted the manuscript.

Funding

This work was supported by funding for Student Research Committee, Hormozgan University of Medical Sciences, Bandar Abbas, Iran (grant number ID 9399).

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Authors and Affiliations

  1. Student Research Committee, Hormozgan University of Medical Sciences, Bandar Abbas, Iran

    Ali Akbar Poursadegh Zonouzi, Najmeh Ahangari & Masoud Akbarzadeh Laleh

  2. Department of Pediatrics, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Iran

    Shahrokh Rajai

  3. Biotechnology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran

    Ahmad Poursadegh Zonouzi

  4. Molecular Medicine Research Center, Hormozgan University of Medical Sciences, Bandar Abbas, Iran

    Azim Nejatizadeh

Authors
  1. Ali Akbar Poursadegh Zonouzi
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  2. Najmeh Ahangari
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  3. Shahrokh Rajai
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  4. Ahmad Poursadegh Zonouzi
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  5. Masoud Akbarzadeh Laleh
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  6. Azim Nejatizadeh
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Corresponding author

Correspondence to Azim Nejatizadeh.

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Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed written consent was obtained from all individual participants included in the study.

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There are no potential conflicts of interest for any author concerning the submitted manuscript.

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Poursadegh Zonouzi, A., Ahangari, N., Rajai, S. et al. Congenital heart defects among Down syndrome patients: a clinical profiling. J Public Health 24, 57–63 (2016). https://doi.org/10.1007/s10389-015-0696-1

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  • DOI: https://doi.org/10.1007/s10389-015-0696-1

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