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 Table of Contents  
ORIGINAL ARTICLE
Year : 2019  |  Volume : 7  |  Issue : 2  |  Page : 80-84

Congenital heart disease in neonates: Their clinical profile, diagnosis, and their immediate outcome


1 Department of Pediatrics, GMC, Srinagar, Jammu and Kashmir, India
2 Directorate of Health Services, SDH, Pattan, Jammu and Kashmir, India
3 Department of Pediatric Cardiology, Fortis Escorts Heart Institute, New Delhi, India

Date of Web Publication28-Jun-2019

Correspondence Address:
Dr. Amber Bashir Mir
Department of Pediatrics, GMC, Srinagar, Jammu and Kashmir
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/heartindia.heartindia_3_19

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  Abstract 


Background: Congenital heart disease (CHD) occurs in approximately 0.6%–0.8% of live births. Early recognition of CHD is important for appropriate management and decision-making regarding referral. The purpose of this study was to document the common presenting symptoms and signs in the neonates with CHD, definitive diagnosis, and their outcome.
Materials and Methods: The study was conducted prospectively in Neonatal Intensive Care Unit, G.B Pant Children Hospital, Department of Pediatrics and Neonatology, GMC Srinagar, from January 2016 to January 2018. Echocardiography screening of all neonates suspected of having CHD was done. Details of all neonates having CHD diagnosed by echocardiography were noted in the prescribed pro forma and their incidence, clinical profile, and outcome were studied.
Results: Totally 529 cases of CHD diagnosed by echocardiography in the neonatal period were studied, out of which 280 were male and 259 were female (male:female = 1.12:1). 382 (72.2%) had acyanotic CHD and 147 (27.7%) had cyanotic CHD (CCHD). Among the acyanotic CHD, the most common CHD was ventricular septal defects (n = 170, 32.1%), and among cyanotic group, d-transposition of great arteries was most common (n = 41, 7.75%). Majority of CCHDs were diagnosed in 1st week of life (n = 50, 34.01%) and most of the neonates with acyanotic CHD were diagnosed in the 4th week of life (n = 207, 39.1%). The most common presenting problem of neonates was fast breathing 230 (43.4%) followed by feeding difficulty 110 (20.77%), cyanosis 91 (17.2%), shock manifested as decreased urine output (n = 43, 8.1%), 43 neonates (8.1%) had cyanosis along with fast breathing, and 32 neonates (6.04%) presented with murmur only. Sixty neonates (40.8%) with CCHD expired within the neonatal period.
Conclusion: Neonates with CHD have a unique presentation and they carry a poor outcome unless diagnosed early and managed appropriately. Infants presenting with multiple anomalies should be screened for any underlying structural heart disease. High index of suspicion is very important as many neonates with CHD are asymptomatic initially.

Keywords: Congenital heart disease, echocardiography, neonates


How to cite this article:
Mir AB, Jan M, Ali I, Ahmed K, Radhakrishnan S. Congenital heart disease in neonates: Their clinical profile, diagnosis, and their immediate outcome. Heart India 2019;7:80-4

How to cite this URL:
Mir AB, Jan M, Ali I, Ahmed K, Radhakrishnan S. Congenital heart disease in neonates: Their clinical profile, diagnosis, and their immediate outcome. Heart India [serial online] 2019 [cited 2019 Nov 17];7:80-4. Available from: http://www.heartindia.net/text.asp?2019/7/2/80/261835




  Introduction Top


The congenital heart disease (CHD) is not fixed anatomic defects that appear at birth, but are instead a dynamic group of anomalies that originates in fetal life and changes considerable during the postnatal development.[1] The incidence of moderate-to-severe structural CHD in liveborn infant is 6–8 per 1000 live births.[2] About 2–3 per 1000 newborns will be symptomatic with heart disease in the 1st year of life. The diagnosis is established by 1 week of age in 40%–50% of patients. CHD is considered one of the leading causes of neonatal mortality.[3] According to a status report on CHD in India, 10% of the present infant mortality may be accounted to CHD.[4] Many cases are asymptomatic and discovered incidentally during routine health checkup.[5]

The neonates with CHD may present with, feeding difficulty, fast breathing, cyanosis, cardiovascular collapse, and congestive heart failure or combinations of these presentations. Pure versions of specific defects may present in some patients, but many neonates have various combinations of defects.[6]

The initial evaluation of any newborn suspected of having critical CHD includes a meticulous physical examination, four extremity blood pressures, preductal and postductal saturations, hyperoxia test, and chest radiograph. Echocardiography, with Doppler and color Doppler, has become the primary diagnostic tool for CHD. In addition, it reduces the requirement for invasive studies such as cardiac catheterization.[7]

There is a lack of data about spectrum of CHD in neonates in our locality. The objective of our study is to document the common presenting symptoms and signs in the neonates with CHD, definitive diagnosis, and their immediate outcome.


  Materials and Methods Top


The study was conducted prospectively in Neonatal Intensive Care Unit, G.B Pant Children Hospital, Department of Pediatrics, GMC Srinagar, from January 2016 to January 2018. Echocardiography screening of all neonates suspected of having CHD was done.

Details of all neonates having CHD diagnosed by echocardiography were noted in the prescribed pro forma and their incidence, clinical profile, and immediate outcome were studied.

Echocardiography was done by a single pediatric cardiologist on SIEMENS ACUSON SC2000 using M-mode, two-dimensional color Doppler cardiac imaging.

Exclusion criteria

Neonates diagnosed as persistent pulmonary hypertension with structurally normal heart, hemodynamically insignificant patent ductus arteriosus (PDA), bicuspid aortic valve with no significant functional abnormality were excluded from the study.


  Results Top


[Table 1] depicts the majority of neonates had acyanotic CHD (72.2%) while cyanotic CHD (CCHD) compromised (27.7%).
Table 1: Depicts majority of neonates had acyanotic congenital heart disease (72.2%) while cyanotic congenital heart disease compromised (27.7%)

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[Table 2] depicts the time of presentation of newborn with CHD. Nearly half of the cases presented in the 4th week (44%) followed by those in 3rd week (26%), 2nd week (17.5), and 1st week (12%) in decreasing order.
Table 2: Age of presentation

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[Table 3] shows the time of presentation of newborns with CCHD versus acyanotic CHD. Majority of neonates with acyanotic CHD 207 (54.1%) presented in the 4th week, while majority of cyanotic and critical CHD 50 (34.1%) presented in the 1st week.
Table 3: Time of presentation (cyanotic vs. acyanotic congenital heart disease)

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[Table 4] shows the sex distribution of the neonates included in the study. About 54% were male and 46% were female.
Table 4: Gender distribution

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The neonates [Table 5] presented with various symptoms of respiratory distress, feeding difficulty, and combination of symptoms; however, the most common presenting cardinal complaint was hurried respiration (43.46%), followed by feeding problem (20.7%), cyanosis (17.2%), shock manifested as decreased urinary output in (8.1%), fast breathing and cyanosis were present in 23 cases (4.3%). Thirty-two cases (6.02%) were asymptomatic and clinically only murmur was present.
Table 5: Presenting complaint

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[Table 6] depicts the presentation of various CCHD and age of presentation. The most common CCHD is d-transposition of great arteries (d-TGA) 7.75%, followed by tetralogy of Fallot (TOF) (4.7%) and single ventricle (double inlet left ventricle [DILV] with pulmonary arterial hypertension/pulmonary stenosis [PAH/PS]) (3.4%). Majority of CCHD presented in the 1st week of life.
Table 6: Types of cyanotic congenital heart disease and their age of presentation

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[Table 7] depicts the presentation of different acyanotic CHD. Most of the acyanotic CHDs presented in the 4th week of life. The most common CHD was ventricular septal defect (VSD) (32.1%) followed by atrial septal defect (ASD) (21.6%) and PDA (9.7%).
Table 7: Types of acyanotic congenital heart diseases and their age of presentation

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[Table 8] depicts the immediate outcome of neonates, showing 40.8% of CCHD died within 1 month, whereas only 10% of acyanotic CHD expiring at 1 month.
Table 8: Immediate outcome

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  Discussion Top


CHD has already been known as an important cause of significant morbidity and mortality in the neonatal period. The neonatal unit is the best place for screening and diagnosis of CHD.[8]

During the 2-year study, 529 neonates were diagnosed with CHD of which 382 (72.2%) were acyanotic CHD and 147 (27.7%) were CCHD, which was comparable to a study by Shah et al. wherein the CCHD constituted 31% and acyanotic 69%.[9] Similarly, in a study by Deo et al., 32.5% belonged to cyanotic group and 67.5% belonged to acyanotic group.[10] Most of the cyanotic variety (34.01%) presented in the 1st week of life, while acyanotic (39.1%) lesions presented in the 4th week of life, which is comparable to study conducted by Humayun and Atiq[11] in which the mean age of presentation of neonates with CHD was 5 days and all had cyanotic type of CHD. Hence, most of the critical and CCHD present in the 1st week of life indicating that early detection of these neonates is critical for their survival.

In our study, the ratio of male-to-female was 1.12:1. This is comparable to many studies by Shah et al. in Nepal wherein the male-to-female ratio was 1.5:1.[9] Similarly, in a study conducted by Humayun and Atiq[11] in Pakistan, male-to-female ratio was 1.7:1. The male preponderance in CHD was seen in majority of the studies conducted worldwide.

Majority of neonates presented with breathing difficulty (43.4%), feeding difficulty (20.7%), and cyanosis (17%). A study by Molaei et al. in Iran, observed that respiratory distress (70%) was the most common complaint and cyanosis (24.4%) was the second-most common complaint.[12]

d-TGA was the most frequent type of CCHD in our patients with a frequency of 7.75%, followed by TOF (4.7%) and DILV with PAH/PS (3.4%). Our work was in agreement with studies done by Islam et al.[13] and Farooqui et al.[14] However, in studies done by Patra et al.,[15] and Hussain et al.,[16] the most common types of CCHD were TOF followed by d-TGA. This difference can be because of the inclusion of only neonates in our study, while other studies included older children and usually TOF presents after a few months of life. Higher incidence of complex CHD in our study can be due to high rate of consanguineous marriage in this part of India. Besides, it also reveals low rate of antenatal diagnosis of complex CHD. There is less awareness about fetal echocardiography.

Among acyanotic CHD, the most common CHD is VSD (32.1%), followed by ASD (21.7%) and PDA (9.8%). Our results are comparable to study by Hussain et al.[16] Khalil et al. noted VSD and PDA were the most common lesions found in 34.8% and 18.6%, respectively.[17] The lower rates of PDA in our study are due to inclusion of only hemodynamically significant PDA in our study with left atrium:aorta ratio of 1.2:1.

In our study, 40.8% of neonates with CCHD died within 1 month. This mortality rate is comparable to the study by Humayun and Atiq 36.4%,[11] 50% by Ravilala et al.[18] This mortality rate is higher than in other studies by Shah et al. which showed mortality rate of 20%.[9] The difference may be due to the difference in the study population and the limited availability of cardiac facilities.


  Conclusion Top


CHD is the most common congenital malformation presenting in the neonatal period with acyanotic defects representing 72.2% and cyanotic 27.8%. CCHD is a leading cause of neonatal morbidity and mortality with 60% of neonates expiring in neonatal period suggesting dire need of good pediatric cardiac center.

Limitations of the study

Our study had some limitations as the study included only a single center. The incidence of CHD could not be calculated as we do not have data regarding total live birth. It is a hospital-based study and will not reflect the true incidence or prevalence of CHD in our community.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Bhalla S, Javidan-Nejad C, Bierhals AJ, Woodard PK, Gutierrez FR. CT in the evaluation of congenital heart disease in children, adolescents, and young adults. Curr Treat Options Cardiovasc Med 2008;10:425-32.  Back to cited text no. 1
    
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Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002;39:1890-900.  Back to cited text no. 2
    
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Wren C, Richmond S, Donaldson L. Presentation of congenital heart disease in infancy: Implications for routine examination. Arch Dis Child Fetal Neonatal Ed 1999;80:F49-53.  Back to cited text no. 3
    
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Saxena A. Congenital heart disease in India: A status report. Indian J Pediatr 2005;72:595-8.  Back to cited text no. 4
    
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Kuehl KS, Loffredo CA, Ferencz C. Failure to diagnose congenital heart disease in infancy. Pediatrics 1999;103:743-7.  Back to cited text no. 5
    
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Johnson BA, Ades A. Delivery room and early postnatal management of neonates who have prenatally diagnosed congenital heart disease. Clin Perinatol 2005;32:921-46, ix.  Back to cited text no. 6
    
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Patton C, Hey E. How effectively can clinical examination pick up congenital heart disease at birth? Arch Dis Child Fetal Neonatal Ed 2006;91:F263-7.  Back to cited text no. 7
    
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McCabe LL, McCabe ER. Newborn screening as a model for population screening. Mol Genet Metab 2002;75:299-307.  Back to cited text no. 8
    
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Shah GS, Singh MK, Pandey TR, Kalakheti BK, Bhandari GP. Incidence of congenital heart disease in tertiary care hospital. Kathmandu Univ Med J (KUMJ) 2008;6:33-6.  Back to cited text no. 9
    
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Deo B, Jadhav J, Idgampalli N, Deo N, Sabale R. Study of clinical profile of congenital heart disease in paediatric age group. Indian J Basic Appl Med Res 2015:4:269-72.  Back to cited text no. 10
    
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Humayun KN, Atiq M. Clinical profile and outcome of cyanotic congenital heart disease in neonates. J Coll Physicians Surg Pak 2008;18:290-3.  Back to cited text no. 11
    
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Molaei A, Asadi G, khoshbakht M. Prognosis of the newborns with congenital heart diseases. Aust Int Acad Center 2015;3:49-55.  Back to cited text no. 12
    
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Islam MN, Hossain MA, Khaleque MA, Khan MR, Bari MS. Prevalence of congenital heart disease in neonate in a tertiary level hospital. Nepal J Med Sci 2013;2:91-5.  Back to cited text no. 13
    
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Farooqui R, Haroon U, Niazi A. Congenital heart diseases in neonates. J Rawalpindi Med Coll 2010;14:31-2.  Back to cited text no. 14
    
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Patra S, Rama Sastry UM, Mahimaiha J, Subramanian AP, Shankarappa RK, Nanjappa MC. Spectrum of cyanotic congenital heart disease diagnosed by echocardiographic evaluation in patients attending paediatric cardiology clinic of a tertiary cardiac care centre. Cardiol Young 2015;25:861-7.  Back to cited text no. 15
    
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Hussain S, Sabir MU, Afzal M, Asghar I. Incidence of congenital heart disease among neonates in a neonatal unit of a tertiary care hospital. J Pak Med Assoc 2014;64:175-8.  Back to cited text no. 16
    
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Khalil A, Aggarwal R, Thirupuram S, Arora R. Incidence of congenital heart disease among hospital live births in India. Indian Pediatr 1994;31:519-27.  Back to cited text no. 17
    
18.
Ravilala VK, Kotla S, Radhakishan T, Malava R. Study of congenital heart disease in neonates: Clinical profile, diagnosis, immediate outcome and short-term follow-up. Int J Contemp Pediatr 2018;5:1304-9.  Back to cited text no. 18
    



 
 
    Tables

  [Table 1], [Table 2], [Table 3], [Table 4], [Table 5], [Table 6], [Table 7], [Table 8]



 

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