Profile of Acyanotic Congenital Heart Defects

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Profile of Acyanotic Congenital Heart Defects

Akash Gupta

1

, Shaad Abqari

1*

, Tabassum Shahab

1

, MU Rabbani

2

, S Manazir Ali

1

, Uzma Firdaus

1

1Department of Pediatrics and 2Centre of Cardiology, J. N. Medical College, AMU Aligarh

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Original Article

www.iabcr.org International Archives of BioMedical and Clinical Research | Oct-Dec 2016 | Vol 2 | Issue 4

ABSTRACT

Background: Acyanotic CHD constitute majority of heart defect with significant morbidity, Profile of various defects is essential for identifying children who need urgent intervention and who need to be medically followed.

Methods: The study was carried out in Department of Pediatrics and Center of Cardiology, Jawaharlal Nehru Medical College, Aligarh. All patients referred with complaints or clinical examination suggestive of congenital heart defects were further evaluated with echocardiography. On echocardiography patients having congenital heart defects were included as cases which were further divided into cyanotic and acyanotic heart defects, preterms having PDA and PFO and those with acquired heart defects were excluded. The profile and mode of presentation of various acyanotic CHDs was further described in detail. Results: Acyanotic heart defects were 290(72.50%) of the total heart defects, while the contribution of cyanotic heart defects was 110 (27.50%). Out of all CHDs, VSD was the most common lesion with contribution of 152 (38.00%) cases, followed by ASD (20.34%) , PDA (13.10%), PS (6.90%), Subaortic Membrane (2.00%), AV Canal valve defect (1.00%), RSOV (1.00%), Bicuspid Aortic Valve (1.00%), PAPVC (0.66%), Cortriatriatum (0.33%), Coarctation of Aorta(0.33%), ALCAPA(0.33%) and Aortic stenosis (0.33%). Age of presentation for most of the children was between 1 to 5 years. Conclusions: The profile and mode of presentation of various acyanotic heart defects was similar to other studies but diagnosis was delayed in majority of cases. The prevelance of various obstructive lesions like AS, coarctation and bicuspid aortic valve was much lower.

Key words: Acyanotic Congenital heart disease, profile, VSD, ASD, PS,AS

INTRODUCTION

Congenital heart disease (CHD) is the most common cause among all the birth defects, representing a major global health problem. Twenty-eight percent of all major congenital anomalies consist of heart defects[1] and the estimated prevalence of CHD is about 8 per 1,000 live births.[2] There is major improvement in the diagnosis of CHDs with the advent of echocardiography. These are primarily seen in neonates, infants and children; although in our country it is not rare to have adults with uncorrected

CHD. With advancement in diagnosis and management

there is increased survival of newborns with CHD.

Consequently, more patients with CHD (corrected &

uncorrected) reach adulthood, creating a completely new cohort of patients with grown-up congenital heart disease (GUCH). With the limited resources present in our country, profiling is essential for identifying children who are in the utmost need of medical and surgical care and who need to be closely followed. Acyanotic CHD constitute majority of heart defect with significant morbidity. Studies done by Hussain,[3] Khalid[4] and Kumar[5] had found prevalence of acyanotic CHDs as 78.5%, 74% and 76% respectively, while a study done by Khan et al[6] showed presence of 69.3% of acyanotic CHD in all cases which was less as compared to other studies.

METHODS

This is an analytical study done in the Department of Pediatrics and Center of Cardiology, Jawaharlal Nehru Medical College, Aligarh Muslim University from February 2014 to September 2015 with the aim to determine the profile of different Acyanotic congenital heart defects in children and newborns. All children suspected of congenital heart disease presenting to Pediatric OPD/IPD/Nursery, on the basis of history and Access this article online

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DOI:

10.21276/iabcr.2016.2.4.3

Received:27.09.16| Revised:08.11.16| Accepted:09.11.16

Corresponding Author

Dr. Shaad Abqari, Assistant Professor, Department of Pediatrics, J N Medical College, A.M.U Aligarh.

Copyright: © the author(s) and publisher. IABCR is an official publication of Ibn Sina Academy of Medieval Medicine & Sciences, registered in 2001 under Indian Trusts Act, 1882. This is an open access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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clinical examination were included. A suspected case was defined as any child with SpO2 <93% at room air/or visible cyanosis, any child with h/o frequent chest infections /unexplained failure to thrive/feeding difficulty/effort intolerance, unexplained CHF, murmur, abnormal ECG, abnormal heart sounds, abnormal Blood Pressure, differential peripheral pulses and abnormal chest X-Ray.

Parents of children who had not given consent of participating in the study and cases of acquired heart disease (e.g RHD) were excluded. All children were then screened through ECG and Chest X-ray and the diagnosis was confirmed by echocardiography. Spectrum of various Acyanotic congenital heart defects from all the cases was then analyzed along with their gender distribution, age of presentation and clinical presentation. All cases were followed up after surgical /medical management in the Pediatric Cardiology clinic.

RESULTS

In our study, out of total 400 cases, acyanotic CHDs constituted 290 cases which was 72.5 % of total CHDs.

VSD was the most common lesion of all acyanotic heart defects (52.41%) followed by ASD (20.34%), PDA (13.10%), PS (6.90%), Subaortic Membrane (2.00%), AV Canal valve defect (1.00%), RSOV (1.00%), Bicuspid Aortic Valve (1.00%), PAPVC (0.66%), Cortriatriatum (0.33%), Coarctation of Aorta (0.33%), ALCAPA (0.33%) and Aortic stenosis (0.33%). Age of presentation for most of the children was between 1 to 5 years (Table 1).

Out of 152 VSDs, 110 VSD cases were of Perimembranous VSD (72.37%), Muscular VSD were 18 (11.84%) while Outlet VSD were 24 (15.79%). Among the 152 cases, VSD were present in 110 males (72.37%) and 42 females (27.63%). 5 cases of Perimembranous VSD and 4 cases of Outlet VSD were associated with RCC Prolapse leading to mild to moderate degree of Aortic Regurgitation.

As shown in table 2, the clinical presentation of VSD varied with age. In age group <1month, VSD were asymptomatic and detected only on screening as murmur on auscultation, while majority of cases were in age group of 1-5 yrs with history of recurrent LRTI or CHF. Cyanosis was also present in 2 cases where the patients developed reversal of shunt.

During the course of our study 19 VSD closed spontaneously (12.5%). Of 132 cases, 15 cases were lost to follow up.

Atrial septal defect (ASD) was the second most common lesion among acyanotic heart defect after VSD. Out of 400 cases, 59 cases of ASD were detected contributing 14.75%

of all CHD cases. ASD appeared to be slightly more common in females 32(54.24%) than males 27(45.76%).

As shown in Table 3, among various types of ASD, Ostium secundum was the most common lesion 42(71.18%) followed by Sinus Venosus ASD 10(16.95%) and then Ostium Primum 7(11.86%). One cases of Ostium secundum ASD was associated with Scimitar syndrome.

Most of the ASD were often asymptomatic and detected on clinical examination as a short ejection systolic murmur.

ASD became symptomatic mostly in later part of first decade or early second decade with palpitation being the common presentation (Table 4).

From 59 cases, 55 cases (93.22%) were kept on medical follow up while 4(6.78%) cases were taken up for surgical closure. During the course of our study, 10 ASDs (16.95%) closed spontaneously and 15 cases were lost to follow up.

PATENT DUCTUS ARTERIOSUS

PDA was the third most common lesion of all the acyanotic CHDs. There were 38 cases of PDA contributing 9.5% of total CHD. This excluded PDA detected in preterms which closed spontaneously or with medication. Out of total 38 cases, 29(76.32%) cases were females and 9(23.68%) cases were males. Most of the cases of PDA were asymptomatic and usually detected on clinical examination as murmur.

Large size PDA presented as recurrent LRTI or congestive heart failure.

Four cases were referred for surgical closure and remaining 34 cases (89.47%) were kept on medical follow up (table 5). During the course of our study, 5 PDA (13.16%) closed spontaneously. 6 cases lost to follow up.

PULMONARY STENOSIS WITH INTACT VENTRICULAR SEPTUM

Pulmonary stenosis (PS) was less frequently detected acyanotic heart defect. A total of 20 cases of PS were detected contributing to 5% of all cases of CHD. Three types of PS were detected, Valvular PS was the most common seen in 15 cases, while Supravalvular PS constituted 4 cases and Infundibular PS constituted 1 case.

Out of the 20 cases, 15 cases were males while 5 cases were females. Most of the cases of PS were detected on clinical examination as murmur in early age group while as age advanced, palpitation was the most common complaint.

Thirteen cases (65%) were kept on medical follow up while 7(35%) cases were referred for balloon dilatation. Three cases were lost to follow up. All 7 cases are on regular follow up after balloon dilatation.

SUBAORTIC MEMBRANE (SAM):

Six cases of SAM were detected with contribution of 1.5%

of total CHDs. 2 cases (33.34%) of SAM were associated with Aortic regurgitation while 3 cases (50%) were associated with both Aortic regurgitation as well as Aortic stenosis. Five cases were males while one case was female.

Most of the cases presented as palpitation in preschool and school going age. All the cases were sent for surgical correction and are regularly being followed up.

SPECTRUM OF OTHER ACYANOTIC CONGENITAL HEART DEFECTS

ATRIOVENTRICULAR CANAL VALVE DEFECT Atrioventricular canal valve defect was present in 3 of total 400 cases with fast breathing and congestive heart failure as common presentation. All 3 cases were of Down’s syndrome. 3 cases were advised surgery, 2 underwent surgical correction while one case was lost to follow up.

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RUPTURED SINUS OF VALSALVA (RSOV)

There were 3 cases of Ruptured sinus of Valsalva with fast breathing and chest pain as presentation in school going and adolescent age group. No case presented with acute congestive heart failure. All cases were sent for surgery.

BICUSPID AORTIC VALVE (BAV)

Three cases of Bicuspid aortic valve were detected. Two cases were associated with Aortic regurgitation.

Presentation was in preschool and school going age with palpitation as a common complaint. All 3 cases are on regular follow up for early detection of severe AS / AR.

PARTIAL ANOMALOUS PULMONARY VENOUS CONNECTION (PAPVC)

Two cases of PAPVC were detected in infancy period presenting with fast breathing. Both the cases are on medical follow up.

ANOMALOUS LEFT CORONARY ARTERY FROM PULMONARY ARTERY (ALCAPA)

One case of ALCAPA was detected in infancy and presented with fast breathing and congestive heart failure.

The patient was lost while on treatment.

COR TRIATRIATUM

One case of Cor triatriatum was diagnosed in infancy with fast breathing and congestive heart failure as the presenting complaint. Patient expired while on treatment because of CHF.

COARCTATION OF AORTA

One case of Coarctation of the aorta was diagnosed at age of one and half month with fast breathing and failure to thrive. Patient was send for surgical correction and is on medical follow up.

AORTIC STENOSIS

One case of Aortic stenosis presented in neonatal period with CHF. Patient undergone successful balloon dilatation and is on regular follow up.

DISCUSSION

VENTRICULAR SEPTAL DEFECT:

VSD was the most common lesion (38%) in our study.

Similar prevalence was found by Ramachandra U.[7]

However study done in Jordon by Khalid Amro in 20074 and Sharmin in Bangladesh[8] found it to be 43% and 42.6%

respectively. In another study done by Awori M in 2006 in Kenya9 which was a retrospective study, VSD constituted only 18.7% of total CHDs. Studies from Hussain from Bangladesh[3] and Inayatullah Khan from Pakistan[6] had found VSD to be 26.9% and 29% respectively of all CHDs (Table 6).

Studies from India report VSD as the commonest lesion.

Study done by Mishra et al from Uttar Pradesh[10] showed prevalence of VSD 28.30%. However, study done by Bhat in 2012 at Uttrakand[11] and Jatav et al. in 2013 at Andhra

Pradesh[12] both of which were prospective study had found prevalence of VSD to be 30.45% and 28.44% respectively.

Study done by Kapoor R in 2008 at Kanpur[13] showed VSD to be 21% which was less as compared to our study (Table 7).

Perimembranous VSD (72.37%) was the most common of all VSD. Similar profile of VSD was shown in study of Jatav et al.[12] in which Perimembranous VSD constituted 69.69% of total VSD. Most of the VSD presented in preschool age group (45.39%). While study done by Ramachandra U[7] showed commonest age group to be <1 years that was 66 %. Recurrent LRTI / Congestive heart failure was the most common presenting complaint.

ATRIAL SEPTAL DEFECT

ASD was the 3rd most common CHD constituting 14.75%

of all CHDs. Almost similar prevalence of ASD was present in the study done by Sharmin[8] and Khalid Amro.

[4] Study done by Hussain[3] showed higher proportion of ASD of 21.2%. Studies by Ramachandra U[7] and Awori[9]

studies the percentage of ASD was 7.3% and 4.7%

respectively.

Almost all Indian studies showed prevalence of ASD close to our study, the prevalence ranging from 16-19% by different investigators.

Ostium secundum was the most common among all ASDs (71.18%) similarly shown by Jatav et al[12] in which Ostium Secundum was 71.42%. In ASD there was more female preponderance similar to what was found in study of Sharmin8. Most of patients were asymptomatic. 93.22%

were kept on medical follow up while 6.78% cases were referred for surgical closure. During the course of our study, 16.95% closed spontaneously.

PATENT DUCTUS ARTERIOSUS:

PDA was the 4th most common defect 9.5% of all CHDs.

Studies done around the world show pattern of PDA to be contributing to 7.5% to 14.5% of cases. Highest proportion of PDA upto 14.5% was present in the study done by Khan[6] while lowest of 7.5% was present in the study done by Ramachandra U.[7] Studies done by Khalid Amro,[4]

Sharmin[8] and Hussain[3] had contribution of 8.3%, 7.8%

and 8.7% respectively. In contrast, studies done in India showed great variation in PDA occurrence. Study done by R Kapoor[13] showed distribution of PDA among all CHDs to be as high as 14.6%. Rest of the studies from India show a prevalence of PDA to be around 9-10% similar to our study. Most of the PDA cases were asymptomatic and some presented with recurrent LRTI. Most of the patients were kept on medical follow up.

PULMONARY STENOSIS:

PS contributed 5% of total cases of CHD. Sharmin[8] had found only 1.7% cases of PS while study by Khan[6] had shown prevalence of PS to be 7.1%. Mishra et al[10] had 9.5% of cases of PS. Study done by R Kapoor[13] found prevalence of 1.1%. Valvular PS was the most common among all PS (75%). Almost half patients were kept on medical follow up and rest was sent for balloon procedure.

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Comparison of other defects is depicted in Table 8.

Percentage of AV canal defect was much lower as

compared to other studies, even Bicuspid aortic valve and severe Aortic stenosis was much less.

Table 1: Spectrum of Acyanotic Heart Disease According to Age of Presentation

S.NO. DIAGNOSIS <1MONTH 1MONTH-

12MONTH >12MONTH-

5YEARS >5YEARS-

11YEARS >11YEARS TOTAL 1. VENTRICULAR SEPTAL

DEFECT (VSD) 14(4.80%) 46(15.90%) 67(23.10%) 22(7.50%) 3(1.00%) 152(52.41%) 2. ATRIAL SEPTAL DEFECT

(ASD) 16(5.50%) 20(6.90%) 12(4.10%) 9(3.10%) 2(0.70%) 59(20.34%) 3. PATENT DUCTUS ARTERIOSUS

(PDA) 12(4.10%) 6(2.00%) 14(4.80%) 5(1.70%) 1(0.30%) 38(13.10%) 4. PULMONARY STENOSIS (PS) 2(0.60%) 1(0.30%) 7(2.40%) 7(2.40%) 3(1.00%) 20(6.90%) 5. SUBAORTIC MEMBRANE

(SAM) 0 1(0.33%) 2(0.66%) 1(0.33%) 2(0.66%) 6(2.00%)

6. AV CANAL VALVE DEFECT 1(0.33%) 2(0.66%) 0 0 0 3(1.00%)

7. RUPTURED SINUS OF

VALSALVA (RSOV) 0 0 3(1.00%) 0 0 3(1.00%)

8. BICUSPID AORTIC VALVE 0 0 1(0.33%) 0 2(0.66%) 3(1.00%)

9.

PARTIAL ANOMALOUS PULMONARY VENOUS CONNECTION (PAPVC)

0 2(0.66%) 0 0 0 2(0.66%)

10. CORTRIATRIATUM 0 1(0.33%) 0 0 0 1(0.33%)

11. COARCTATION OF AORTA 0 1(0.33%) 0 0 0 1(0.33%)

12.

ANOMALOUS LEFT CORONARY ARTERY FROM PULMONARY ARTERY (ALCAPA)

0 1(0.33%) 0 0 0 1(0.33%)

13. AORTIC STENOSIS (AS) 1(0.33%) 0 0 0 0 1(0.33%)

TOTAL 46(15.86%) 81(27.93%) 106(36.55%) 44(15.17%) 13(4.48%) 290(100%)

Table 2: Modes of Presentation of Ventricular Septal Defects

AGE MURMUR ON

SCREENIG

RECUURENT LRTI/

CHF

INCREASED PRECORDIAL ACTIVITY/PALPITATION

CYANOSIS TOTAL

<1MON 12(7.89%) 2(1.31%) 0 0 14(9.21%)

1MON-12MON 16(10.52%) 30(19.73%) 0 0 46(30.26%)

>12MON-5YRS 6(3.94%) 60(39.50%) 1(0.66%) 0 67(44.08%)

>5YRS-11YRS 10(6.58%) 7(4.60%) 5(3.29%) 0 22(14.47%)

>11YRS 0 0 1(0.66%) 2(1.31%) 3(1.97%)

TOTAL 44(28.94%) 99(65.13%) 7(4.60%) 2(1.31%) 152(100%)

Table 3: Spectrum of ASD

S No. TYPE OF ASD MALE FEMALE TOTAL

1. OSTIUM SECUNDUM 18(30.50%) 24(40.68%) 42(71.18%)

2. SINUS VENOSUS 5(8.47%) 5(8.47%) 10(16.95%)

3. OSTIUM PRIMUM 4(6.78%) 3(5.08%) 7(11.86%)

TOTAL 27(45.76%) 32(54.24%) 59(100%)

Table 4: Clinical Presentation of Atrial Septal Defect

AGE MURMUR ON

SCREENIG RECURRENT LRTI PALPITATION TOTAL

<1MON 16(27.11%) 0 0 16(27.11%)

1MON-12MON 18(30.5%) 2(3.39%) 0 20(33.90%)

>12MON-5YRS 8(13.56%) 1(1.70%) 3(5.08%) 12(20.33%)

>5YRS-11YRS 1(1.70%) 1(1.70%) 7(11.86%) 9(15.25%)

>11YRS 0 0 2(3.39%) 2(3.39%)

TOTAL 43(72.88%) 4(6.78%) 12(20.34%) 59(100%)

Table 5: Clinical Spectrum of PDA

AGE MURMUR ON

SCREENIG CHF RECURRENT LRTI PALPITATION TOTAL

<1MON 12(31.58%) 0 0 0 12(31.58%)

1MON-12MTH 3(7.90%) 3(7.90) 0 0 6(15.80%)

>12MON-5YRS 3(7.9%) 3(7.9%) 6(15.79%) 2(5.27%) 14(36.84%)

>5YRS-11YRS 0 0 0 5(13.15%) 5(13.15%)

>11YRS 0 0 0 1(2.63%) 1(2.63%)

TOTAL 18(47.37%) 6(15.79%) 6(15.79%) 8(21.05%) 38(100%)

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Table 6 Comparison of profile of congenital heart defects with studies (Outside India)

AUTHOR, YEAR AND PLACE OF

STUDY

TYPE OF STUDY AGE GROUP &

Number of cases(N) VSD% ASD% PDA% PS%

RAMACHANDRA U7

2002, Nepal PROSPECTIVE

0-14 YEARS

N = 55 38 7.3 7.5 3.6

AWORI M9

2004 , Kenya RETROSPECTIVE

0-13YEARS

N = 214 18.7 4.7 10.7

KHALID AMRO4 2007, Jordon

RETROSPECTIVE 0-14 YEARS

N = 173 43 13.6 8.3 6.2

SHARMIN 8 2007, Bangladesh

PROSPECTIVE 0-12 YEARS

N = 115 42.6 14.8 7.8 1.7

MANZOOR HUSSAIN 3 2009,

Bangladesh PROSPECTIVE 0-12 YEARS

N = 539 26.9 21.2 8.7 4.5

INAYATULLAH KHAN 6

2011, Pakistan PROSPECTIVE 0 - 10 YEARS

N = 114 29 10.5 14.5 7.1

OUR STUDY PROSPECTIVE

0-18 YEARS

N = 400 38 14.75 9.5 5

Table 7 Comparison of profile of acyanotic heart defects with other Indian studies

AUTHOR

Year and Place of study TYPE OF STUDY AGE GROUP

& Number of cases

VSD

%

ASD

%

PDA

%

PS

% SMITHA 3

2006,Mysore RETROSPECTIVE CLINICAL

0 - 10 Years

n = 794 40.47 19.06 9.5 -

KAPOOR 13

2008,Kanpur RETROSPECTIVE CLINICAL

0-15 Years

n = 281 21.30 19 14.60 1.10

MISHRA ET AL10

2009,UttarPradesh PROSPECTIVE CLINICAL 4-18 Years

n = 142 28.30 6.70 8.70 9.50

BHAT 11

2012,Uttrakand PROSPECTIVE CLINICAL 0-18 Years

n = 312 30.45 17.63 9.62 6.41

JATAV ET AL12

2013, Andhra Pradesh PROSPECTIVE CLINICAL 0-25 Years

n = 116 28.44 18.10 10.34 6.89

KUMAR 5

2015 Andhra Pradesh CROSS SECTIONAL 1month -12 Years

n=50 32 16 10 -

OUR STUDY PROSPECTIVE 0-18 YEARS

N = 400 38 14.75 9.5 5

Table 8 Comparison of profile of Acyanotic heart defects (less common) with other studies

Heart Defect Sharmin 8

%

Hussain 3

%

Khaled 4

%

Awori 9

%

Ramchandra 7

%

Khan 6

%

Kapoor 13

%

Jatav 12

%

Our study %

AV canal Defect

3.50 4.40 3.60 6.50 1.80 4.40 10.30 3.44 0.75

Bicuspid

Aortic valve - - - - 3.6 - 1.1 2.58 0.75

Aortic

Stenosis - 3.7 4.3 - 1.8 - 2.8 - 0.25

Ruptured of sinus

of valsalva - - - - - - - 0.86 0.75

Cortria-

triatum - - - - - - - 0.86 0.25

Coarcta-tion

of Aorta 1.7 1.7 3.4 0.9 1.8 3.5 - 1.72 0.25

Spectrum of acyanotic heart defect was quite wide and most of them were detected in the age group of 1-5yrs. In case of VSD the most common presentation was recurrent LRTI or CHF, in majority of cases a VSD presented with bad pneumonia often landing up on ventilatory support because of delayed suspicion on the part of treating physician. The other extreme was a restrictive VSD in which a loud murmur brought the attention early to the referring doctor. Two cases of VSD eisenmenger in which the diagnosis was completely missed till the end of first decade of life pointing towards the need of robust screening

programme emphasizing towards the education of parents regarding the danger signs besides training of peripheral workers for early detection of CHDs. In our study ASD was not as common as in other studies as ASD tend to be symptomatic quite later in the life, most of the patients were referred for evaluation of murmur similar scenario was with Pulmonary stenosis.

All the three cases of AV canal defect were associated with Downs syndrome when they were sent for ruling out CHD in a case of Down syndrome. We had far less cases of Coarctation compared to other studies again emphasizing

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the role of detailed neonatal evaluation especially the examination of femorals though we know that pulsations can be normal in case of large PDA. Rare cases like ALCAPA and cortriatriatum were also detected.

CONCLUSION

The study has shown various spectrum of acyanotic heart defects which was similar to other studies but in all cases the diagnosis was delayed which has again raised an important issue of lack of awareness and prompt referral at the peripheral level.

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1.

How to cite this article: GuptaA, AbqariS, ShahabT, Rabbani MU, AliSM, FirdausU. Profile of Acyanotic Congenital Heart Defects. Int Arch BioMed Clin Res. 2016;2(4):11-16.DOI:

10.21276/iabcr.2016.2.4.3

Source of Support: Nil, Conflict of Interest: None

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