|Year : 2020 | Volume
| Issue : 1 | Page : 7-11
Clinical presentation of cyanotic congenital heart diseases in the pediatric population
Ashish Varma, Varsha Sharma, Sachin Damke, RJ Meshram, Anjali Kher, Jayant Vagha
Department of Pediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Science (Deemed to be University), Wardha, Maharashtra, India
|Date of Submission||18-Oct-2018|
|Date of Decision||12-Jun-2019|
|Date of Acceptance||07-Nov-2019|
|Date of Web Publication||13-Oct-2020|
Dr. Ashish Varma
Department of Pediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Science (Deemed to be University), Sawangi, Wardha - 442 001, Maharashtra
Source of Support: None, Conflict of Interest: None
Background: The cases of cyanotic heart diseases are commonly admitted for medical and surgical management. Aims and Objective: The aim was to study the clinical presentation of congenital cyanotic heart diseases. Materials and Methods: For inclusion in the study, children suffering from congenital cyanotic heart diseases from age of 2 months admitted in the pediatric wards and intensive care unit were included in the this study. Results: During the study period of 1 year, 80 cases were included. This study noted that males were 55% than females. Presenting complaints in majority of patients was difficulty in breathing .They also had repeated episodes of LRTI in past. Malnutrition was seen in more than 50% of the cases of cyanotic congenital heart disease. SPO2was low in majority of these children; SpO2levels were above 90% among 12 patients (15%). Cyanosis was the most frequent sign. The apex beat was diffuse in 26 cases, more common in cases with increased pulmonary blood flow 18 (70%). Thrill was most common in tetralogy of fallot (TOF) physiology cases. The palpable P2 was observed in eight cases and palpable epigastric pulsations seen in three children in increased pulmonary blood flow cyanotic heart diseases. On auscultation, second heart sound findings were that the soft S2 was observed mostly in TOF and loud S2 in increased pulmonary blood flow cyanotic heart diseases. The shunt murmurs were observed in 12 cases and ventricular septal defect was seen in 8 cases and atrial septal defect in 4 cases. The most common murmur was ejection systolic murmur in the study. The most common congenital cyanotic disease was TOF 38 (47.5%), while the complication was congestive heart failure 14 (37%). On X-ray showed cardiomegaly and electrocardiogram revealed right axis deviation. Conclusion: The cyanotic heart diseases present with mostly cyanosis, difficulty in breathing, and low oxygen saturation. The general signs were more common than systemic signs.
Keywords: Cyanosis, pediatric, presentation
|How to cite this article:|
Varma A, Sharma V, Damke S, Meshram R J, Kher A, Vagha J. Clinical presentation of cyanotic congenital heart diseases in the pediatric population. J Datta Meghe Inst Med Sci Univ 2020;15:7-11
|How to cite this URL:|
Varma A, Sharma V, Damke S, Meshram R J, Kher A, Vagha J. Clinical presentation of cyanotic congenital heart diseases in the pediatric population. J Datta Meghe Inst Med Sci Univ [serial online] 2020 [cited 2020 Oct 20];15:7-11. Available from: http://www.journaldmims.com/text.asp?2020/15/1/7/297992
| Introduction|| |
Potentially, functional significant gross structural abnormality of the heart or intrathoracic great vessels that are present at birth gives rise to congenital heart disease (CHD). CHD has incidence of 8/1000 live births. The prevalence of CHD in Asia was reported as 9.3 per 1,000 live births and its prevalence in Europe was significantly higher than in North America (8.2/1000 live births vs. 6.9/1000 live births.,,,,
Congenital heart diseases are divided into two major groups based on the presence or absence of cyanosis known as acyanotic CHD (ACHD) and cyanotic CHD (CCHD), respectively. Acyanotic CHD with left to right shunt has 3 types with most common defect being ventricular septal defect (VSD) (4, 8, 9), atrial septal defect (ASD) and patent ductus arteriosus (PDA). ACHD with obstructive lesion is coarctation of the aorta and valvular and supravalvular aortic stenosis.
The children with CCHD may present with cyanosis, cardiovascular collapse, cyanotic spells and congestive heart failure (CHF), or combinations of these presentations. Pure versions of specific defects may present in some patients, but many have various combinations of defects. More the combinations, high chances of poor outcomes are correlated. Two-dimensional echocardiography is emerging as an essential diagnostic tool for CCHD. In addition, it reduces the need for invasive studies such as cardiac catheterization., The X-ray and electrocardiogram are very relevant, easily reproducible, and bedside method for the evaluation of cardiac disorders. Chest X-ray can show not only cardiomegaly but specific cardiac silhouettes related with cardiac diseases, for example, in tetralogy of fallot (TOF) boot-shaped heart. The most common CCHD with decreased pulmonary blood flow includes transposition of great arteries (TGA) with pulmonary stenosis (5%–7%). Other pathologies are TOF (5%), tricuspid atresia (TA) with pulmonary stenosis, pulmonary atresia with intact ventricular septum. CCHD with normal or increased pulmonary blood flow includes TGA, truncus arteriosus, double outlet right ventricle (DORV), and Ebstein's anomaly.
In our country, poor infrastructure and facility leads to late corrective interventions for CHD causing a vicious cycle of CHF, cyanotic spells and respiratory infections., This results in a high prevalence of preoperative malnutrition, refractory CHF, nonresponsive spells, irreversible pulmonary hypertension, brain abscess, stroke, etc., in patients with CCHD. In view of this risk of increased morbidity and mortality due to complications in children with CCHD, it is essential to assess the clinical profile of congenital cyanotic heart diseases. The purpose of this study is to see clinical profile of congenital cyanotic heart disease.
- To study the clinical profile of cyanotic heart disease in clinically diagnosed children
- To correlate clinical profile with echocardiographic findings.
| Materials and Methods|| |
Place of study
All clinically diagnosed cases of cyanotic heart disease admitted in the Pediatric Ward of Acharya Vinobha Bhave Rural Hospital (AVBRH) Sawangi Hospital during the study period.
This was a prospective observational study.
The study was conducted during August 2017–July 2018
The study population included children from 2 months to 14 years of age with CCHD.
- Children from 2 months to 14 years of age with a clinical diagnosis of congenital heart disease with cyanosis.
- Patients with eisenmengerisation
- Sample size: 80.
The data were analyzed using SPSS 20.0 Version software (Chicago, Illinois).
All the relevant information were gathered in the predesigned pro forma which includes detailed history, examination, and investigations.
| Observations and Results|| |
Gender Distribution: In the present study, males were 41 (51.25%) and females were 39 (48.75%). The male-to-female ratio was 1.05:1, i.e., males are more than females. In the present study, patients under study present with difficulty in breathing in 45 patients (56.5%), cyanosis in 20 (25%), spell in 2 (2.5%), and dyspnea with cyanosis in 13 patients (16%). Most commonly, patients presenting complaint was difficulty in breathing.
Nutritional status of CCHD patients under this study is as follows: severe acute malnutrition was observed in 14 (17.5%) patients, moderate malnutrition in 15 (18.75%) patients, 12 patients were undernourished (15%), and the rest 39 patients had normal nutritional status, i.e., 48.75%. In the present study of CCHD, clinical sign present most commonly was central cyanosis with a maximum frequency of 72 (90%) and clinical sign with the lowest incidence of occurrence was pallor in 4 patients (10%). The rest clinical signs are peripheral cyanosis in 68 patients (85%), eye congestion among 48 (60%), clubbing in 26 (32.5), and bone changes and dental caries both signs in 10 patient, i.e., 12.5% [Chart 1].
In this study, from [Chart 2], the most common congenital cyanotic disease was TOF 37 (46.25%), followed by TGA 13 (16%), single ventricle 6 (7.5%), Total Anomalous Pulmonary Venous Connection (TAPVC) 6 (7.5%), TA 4 (5%), DORV and truncus arteriosus both 2 (2.5%), and the remaining miscellaneous were 10 (12.5%). In the other group, two cases were of Shone's complex with interrupted aortic arch mitral atresia with ASD with Patent Ductus Arteriosus (PDA) with PAH and the rest were other complex congenital cyanotic heart diseases.
The complications in cyanotic heart diseases were common, 38 (47.5%) in a total of 80 cases. In this count, even one episode of the spell was included. The most common complication was CHF (13 [34%]). Other complications were cyanotic spells 12 (32%), recurrent lower respiratory tract infection (LRTI, 11[29%]), and brain abscess 2 (5%) [Chart 3]. It was interesting that in heart failure, there were two cases of TOF specifically when it is known that heart failure is unusual in TOF. The cause was anemia in both the cases.
The most common X-ray finding in 34% patients was cardiomegaly. The cases which showed boot shaped heart with decresed pulmonary blood flow were 24. The cardiomegaly included particular shapes like a figure of eight in 5, egg on side 10, and box-shaped heart 4 X-rays. The normal X-rays 29 (36%) were most common, although in the present study, 76 (95%) cases survived, while 4 patients died. The mortality was 5%.
The causes of deaths were CHF, pneumonia, and multisystem organ dysfunction syndrome (MODS) with underlying cyanotic heart diseases.
| Discussion|| |
Clinical Features and Past History: In the present study, patients under study present with difficulty in breathing in 45 patients (56.5%), cyanosis in 20 (25%), spell in 2 (2.5%), and dyspnea with cyanosis in 13 patients (16%). Most commonly, patients presenting complaint was difficulty in breathing. Patients under this study maximally have a negative past history, i.e., no past events in 57 patients (71.25%). Patients with a positive past history commonly present with lower respiratory tract infections in 10 patients (12.5%), spell in 6 (7.5%), convulsions in 6 (7.5%), and Acute gastro enteritis (AGE) in 1 (1.25%). The clinical symptoms we observed in the study by Karthiga et al. were fever (52 [78.79%]), breathlessness (48 [72.73%]), feeding problem (12 [18.18%]), and cyanosis (12 [18.18%]). Poor weight gain was presentation in 8 (12.12%) cases and 14 (21.21%) patients presented with other symptoms.
The clinical presentation of CHD varies according to the type and severity of the defect. In infancy and childhood, the usual presenting features are cyanosis, digital clubbing, murmur, syncope, squatting, heart failure, arrhythmia, and failure to thrive. The adolescent and adults present with heart failure, murmur, arrhythmia, cyanosis, hypertension, and late consequences of previous cardiac surgery (e.g., arrhythmia and heart failure).
Breathlessness (60%), fatigue (54.8%), cough (43.5%), poor weight gain (41.7%), recurrent chest infection (34.8%), fever (28.7%), feeding problem (26.1%), palpitation (21.7%), cyanotic spell (13%), and convulsion 1.7% were the clinical presentations observed by Sharmin et al. Respiratory symptoms are common in congenital heart diseases. Recurrent respiratory tract infections were the most common symptom (40%) in a study by Smita et al. in rural India during 2011–2013.
In a study by Sandeep et al., the most common examination finding was tachypnea (88%) followed by tachycardia (76%). Other findings were cyanosis (26%), fever (24%), and 6% of infants had edema. Vaidyanathan et al. study also showed that of 476 cases with CHD, CHF was present in 194 patients (40.8%).
Nutritional status of CCHD patients under this study is as follows: severe acute malnutrition was seen in 14 (17.5%) patients, moderate malnutrition in was seen in 15 (18.75%), patients 12 patients were undernourished (15%), and the rest 39 patients had normal nutritional status, i.e., 48.75%. A study by Hassan et al. showed that underweight was present in 14.3%, stunting in 61.9%, and wasting in 23.8% in cases with CHD, and in control group, underweight was present in 20% of children, stunting in 70%, and wasting 10%. In their study, the prevalence of underweight and stunting was higher in controls than in cases which showed dissimilarity to the present study, in which the prevalence of underweight, stunting, and wasting was much higher in cases than controls.
Al-Asy et al. study also showed similarity to the present study in which of 60 cases with CHD, body mass index (BMI) was significantly lower in cases than the control group (P = 0.001). In a Wishel and Ma'ala study, of 65 cases with CHD, almost half of the samples (32 [49.2%]) were malnourished in relation to BMI for age.
General examination signs in cyanotic congenital heart disease
In the present study of CCHD, clinical sign present most commonly was central cyanosis with a maximum frequency of 72 (90%) and clinical sign with the lowest incidence of occurrence was pallor in 4 patients (10%). The rest clinical signs are peripheral cyanosis in 68 patient (85%), eye congestion among 48 (60%), clubbing in 26 (32.5), and bone changes and dental caries both signs in 10 patients, i.e., 12.5%.
Sharmin et al. observed that tachycardia was observed in 43 (37.4%) patients, chest indrawing in 38 (33%), crepitations in 29 (25.2%) patients, cyanosis in 23 (20%), polycythemia in 22 (19.1%), anemia in 21 (18.3%), enlarged tender liver in 21 (18.3%), clubbing in 20 (17.4%), rhonchi in 15 (13%), edema in 12 (10.4%), engorged neck vein in 8 (7%), hypertension in 2 (1.7%), and radiofemoral delay in 2 (1.7%) patients. In the study by Meshramand Gajimwar, the facial dysmorphism and extracardiac anomalies were observed in 16.89% and 12.79% of the patients, cyanosis was noted in 40% of the patients, and the cyanotic spell was present in 22.79%. Convulsions were the presenting symptom in 10% of the patients. Tachycardia and tachypnea were noted in 88.84% and 83.95%, respectively, while clubbing was observed in CCHD, and these observations correlated well with other studies. Musculoskeletal, gastrointestinal anomalies, and syndromic association were more common and included Down syndrome, Pierre Robin syndrome, microcephaly, polydactyly, and congenital talipes equinovarus (CTEV). Harshangi et al. encountered the same in 12 of 50 patients, while Aravind et al. reported extracardiac anomalies in 21.42% of the patients. Hence, musculoskeletal affection was the most common.
Differential diagnosis in cyanotic congenital heart disease
In this study from above, the most common congenital cyanotic disease was TOF (37 [46.25%]), followed by TGA (13 [16%]), single ventricle (6 [7.5%]), TAPVC (6 [7.5%]), TA (4 [5%]), DORV and truncus arteriosus both (2 [2.5%]), and the remaining miscellaneous were 10 (12.5%). In the other group, two cases were of Shone's complex with interrupted aortic arch mitral atresia with ASD with PDA with PAH and the rest were other complex congenital cyanotic heart diseases.
Balogun et al. study showed that of 100 cases with CHD, the most common ACHD was VSD (49.0%), while the most common CCHD was TOF (10%) which was also similar to the present study. Similar results were seen in the study by Hassan et al. that of 100 cases with CHD, the most common ACHD was VSD (13%), while the most common CCHD was TOF (12%).
The prevalence of TOF (56%) in CCHD was much high in the present study as compared with all the other studies, in which the prevalence of TOF among CCHD was in the range of 10%–15.1%.
Complication of CCHD
The complications in cyanotic heart diseases were common, 38 (47.5%) in total of 80 cases. In this count, even one episode of spell was included. The most common complication was CHF (13 [34%]). Other complications were cyanotic spells (12 [32%]), recurrent LRTI (11 [29%]), and brain abscess (2 [5%]). It was interesting that in heart failure, there were two cases of TOF specifically when it known that heart failure is unusual in TOF. The cause was anemia in both the cases. The growth retardation was seen in 37% of the total cases in this study.
Sharmin et al. noted that complications were heart failure (18.3%), pulmonary hypertension (13%), and growth failure (41.7%). Meshram and Gajimwar also noted that growth failure was the most common complication in inpatients followed by congestive cardiac failure, pneumonia, and subacute bacterial endocarditis. Sepsis was observed in neonatal age, while stroke and meningitis were common in CCHD. A study done by Harshangi et al. reported growth retardation (56%), congestive cardiac failure (56%), and bronchopneumonia (22%) as complications in their study.
Outcome of cyanotic heart disease
In the present study, 76 (95%) cases survived, while four patients died. The mortality was 5%. The causes of deaths were CHF, pneumonia, and MODS with underlying cyanotic heart diseases. The outcomes of the studied cases in the study by Abou-Taleb et al. showed that 74% of cases were improved and then referred to a higher center as Abo-Elreesh Children Hospital, Cairo University, to complete their treatment. Thirteen patients (26%) expired during the hospital stay. The mortality rate of 26% is more than that reported in other studies where Shah et al., in Nepal, reported 20% mortality rate among patients with CHD and also, Jacobs et al., in a study from Hong Kong, reported 20% mortality in cyanotic heart disease patients. However, the mortality rate is higher in the study by HumayunandAtiq, where the mortality rate was 36.4%. The difference may be due to difference in the study population and the availability of cardiac facilities. The most common causes of death were irreversible shock (16%), mostly carcinogenic shock and septic shock, followed by delayed referral to a higher center (8%), and the less common cause was central apnea (2%) due to extensive cerebral infarction and severe Intracranial hemorrhage (ICH).
In the study done by HumayunandAtiq, the causes of death were surgical complications in 2 (4.5%) cases and medical problems in 14 (31.8%) babies such as sepsis and pneumonia and associated extracardiac malformations.
In the study by Begic H et al., causes of death included complex CHD (13 [52%]), refractory congestive cardiac failure (5 [20%]), sepsis (4 [16%]), pneumonia (2 [8%]), and meningitis (1 [4%]). Most of the deaths were in neonatal age due to complex CHD and associated complications such as sepsis.,
- A cardiac registry should be maintained for regular and prompt intervention
- The care of children with CCHD should be coordinated by primary health-care centers. It is recommended that all murmur should be screened unless thought to be physiological. Cardiac evaluation should be done in all cases of repeated chest infection, cyanosis, and failure to thrive. CHD needs regular monitoring to permit optimal growth and development. Early diagnosis and timely intervention will reduce the morbidity and mortality to a large extent
- Children with complex CCHD will require regular evaluations and palliative surgeries, and they can have multiple complications.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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