Published June 30, 2023 | Version https://impactfactor.org/PDF/IJPCR/15/IJPCR,Vol15,Issue6,Article133.pdf
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A Study of Prevalence of Dysmorphic Features in Children with Congenital Heart Disease and their Association with type of CHD

  • 1. Resident Doctor, Department of Paediatrics, Jawaharlal Nehru Medical College, Ajmer
  • 2. Associate Professor, Department of Paediatrics, Jawaharlal Nehru Medical College, Ajmer
  • 3. Senior Professor and Head of the Department, Paediatrics, Jawaharlal Nehru Medical College, Ajmer

Description

Introduction: Congenital heart disease (CHD) accounts to 28 percent of major congenital anomalies, accounting it to be the most common among them. Children with Congenital heart disease often have various dysmorphic features. Objectives: To study the prevalence of dysmorphology in children with CHD and their association between cyanotic and acyanotic types of CHD. Methods: A cross sectional observational study was conducted on 127 children with congenital heart disease admitted in JLN Medical College during the study period. Various dysmorphologies were noted. Prevalence of dysmorphic features and if any dysmorphic feature is significantly associated with the type of CHD (cyanotic or acyanotic) were statistically determined. Result: 75.5% of the sample had some form of dysmorphism, of which the most common was face dysmorphism. Hypertelorism and total face dysmorphism were significantly associated with cyanotic CHD. Conclusion: Dysmorphisms when found in any child warrant the clinician to look for any congenital cardiac anomalies. This helps in early diagnosis and thus, better survival of such children. The dysmorphology can even give a hint about the presence of probable cyanotic variant of CHD.

 

 

 

Abstract (English)

Introduction: Congenital heart disease (CHD) accounts to 28 percent of major congenital anomalies, accounting it to be the most common among them. Children with Congenital heart disease often have various dysmorphic features. Objectives: To study the prevalence of dysmorphology in children with CHD and their association between cyanotic and acyanotic types of CHD. Methods: A cross sectional observational study was conducted on 127 children with congenital heart disease admitted in JLN Medical College during the study period. Various dysmorphologies were noted. Prevalence of dysmorphic features and if any dysmorphic feature is significantly associated with the type of CHD (cyanotic or acyanotic) were statistically determined. Result: 75.5% of the sample had some form of dysmorphism, of which the most common was face dysmorphism. Hypertelorism and total face dysmorphism were significantly associated with cyanotic CHD. Conclusion: Dysmorphisms when found in any child warrant the clinician to look for any congenital cardiac anomalies. This helps in early diagnosis and thus, better survival of such children. The dysmorphology can even give a hint about the presence of probable cyanotic variant of CHD.

 

 

 

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Additional details

Dates

Accepted
2023-06-10

References

  • 1. Muhsin Elmas, Ayhan Pektas, Mustafa Solak, et al. Evaluation of dysmorphic children according to echocardiographic findings: A single center experience 2. Dolk H, Loane M, Garne E: Congenital heart defects in Europe: prevalence and perinatal mortality, 2000 to 2005. Circulation. 2011; 123:841-9. 3. Payne RM, Mork C, Johnson S, et al. Towards molecular understanding of congenital heart disease. American heart association. Inc. Circulation. 1995;9: 494-504 4. Bhat NK, Dhar M, Kumar R, Patel A, Rawat A, Klara Prevalence and pattern of congenital heart disease in Uttarakhand, India. Indian J paediatr 2013,80:281-5 5. Ramachandra N, Smitha R, Karat S, Narayanappa D, Krishnamurthy B, Prasant S: Prevalence of Congenital Heart disease in Mysore. IndianJournal of Human Genetics. 2006; 12:11 6. Settin A, Almarsafawy H, Alhussieny A, Dowaidar M. Dysmorphic Features, Consanguinity and Cytogenetic Pattern of Congenital HeartDiseases: a pilot study from Mansoura Locality, Egypt. Int J Health Sci (Qassim). 2008 Jul;2(2):101-11. 7. Egbe A, Lee S, Ho D, Uppu S, Srivastava S. Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis. Ann Pediatr Cardiol. 2014 May;7(2):86-91 8. Prasad C, Chudley AE. Genetics and cardiac anomalies: The heart of the matter. Indian J Pediatr. 2002 Apr 1;69(4):321–32. 9. V G Dharmendar, Natesh, I B Vijayalakshmi C N Manjunath. Clinical study of external dysmorphism in congenital heart disease: VOL3 NO 3 2016: Indian J of paediatrics 10. Güçer S, Ince T, Kale G, Akçören Z, Ozkutlu S, Talim B, Cağlar M. Noncardiac malformations in congenital heart disease: a retrospective analysis of 305 pediatric autopsies. Turk J Pediatr. 2005 AprJun;47(2):159-66. 11. Sumi Ghorai, Swapan Bhattacharjee, Association of Hypertelorism in children with congenital acyanotic heart diseases. IJCRR2012-2013