Current Clinical Profile of Acute Rheumatic Fever and Recurrent Acute Rheumatic Fever in Pakistan.

Inclusion of echocardiography as diagnostic tool and polyarthralgia and monoarthritis as major criteria for high-risk populations in the Revised Jones Criteria 2015 is likely to surface substantial variability in clinical manifestations among various populations. This study aimed to compare clinical profile of patients presenting with first and recurrent episodes of acute rheumatic fever (ARF) using most recent criteria. 130 consecutive patients with ARF were included in the study from August 2019 to March 2022. World Heart Federation standardized echocardiographic criteria were used for cardiac evaluation. The socio-demographic variables, clinical details and relevant investigations were recorded. Median age was 13(6-26) years. Male to female ratio was 1.6:1. Majority was of low socioeconomic status (90%) and with > 5 family members in a house (83.8%). 27 patients (20.8%) were with ARF while 103 (79.2%) with recurrent ARF. Carditis was the most common presenting feature (n = 122, 93.8%), followed by polyarthralgia (n = 46, 35.4%), polyarthritis (n = 32, 24.6%), subcutaneous nodules (n = 10, 7.7%), monoarthritis (n = 10, 7.7%), and chorea (n = 5, 3.8%). Monoarthralgia was more common in ARF than recurrence (29.4% vs. 3.2%, p = 0.004). Carditis (97.1% vs. 81.5%, p = 0.01) and congestive cardiac failure (18.5% vs. 5.9%, p = 0.001) were more common in recurrent ARF than ARF. Diagnostic categorization of Jones criteria for different populations has highlighted important variability in clinical presentation of ARF. Monoarthralgia is common in first episode of ARF. Carditis is the most common feature in recurrent ARF. Polyarthralgia is seen with higher frequency that polyarthritis. Subcutaneous nodules seem to be more common in our population.

Device closure of residual aortopulmonary window using Konar-MF occluder device: an attractive new option.

We report a case of a residual aortopulmonary window where a new Konar-MF occluder device was used to close the defect. This device has a low profile and conforms to the anatomy of aortopulmonary window very nicely without unnecessary protrusion on either side. This report highlights the advantage of Konar-MF occluder device for closure of such defects.

Percutaneous closure of ventricular septal defect using LifeTechTM Konar-MF VSD Occluder: initial and short-term multi-institutional results.

BACKGROUND: Transcatheter ventricular septal defect closure remains a complex procedure with potential complications like complete heart block and aortic regurgitation. The ideal device design for such intervention is still evolving. AIM: To assess the safety, efficacy, and short-term outcome of ventricular septal defect closure using LifeTechTM multifunctional (KONAR-MFTM) VSD Occluder. PATIENTS AND METHODS: In a multicenre study, 44 patients with haemodynamically significant, restrictive ventricular septal defects underwent closure with the KONAR-MFTM device from April, 2019 to March, 2020. Clinical, echocardiographic, and angiographic data were collected and reviewed. Patients were followed up at 1, 3, 6, and 12 months. RESULTS: The median age and weight were 8 (1.7-36) years and 20 (11-79) kg. Of 44 patients, 8 (18%) had a high muscular and 36 (82%) had a perimembranous defect, of which 6 had mild prolapse of the right coronary cusp. The median ventricular septal defect size was 8.8 (3.9-13.4) mm. A retrograde approach was adopted in 39 (88.6%) patients. Nine patients (20.5%) had a small residual leak and there was a slight increase in aortic regurgitation in one patient. One device, which embolised to pulmonary artery was retrieved, and the defect was closed with a larger device. At a median follow-up of 13 (5-18) months, the residual leak persisted in 1 (2.3%) patient. Mild aortic regurgitation in one patient remained unchanged. There were no major complications. CONCLUSION: Percutaneous closure of ventricular septal defect using KONAR-MFTM device is safe and effective in short and midterm follow-up including selected patients with perimembranous defect and mild prolapse of the right coronary cusp.

Yield of 48-hour Holter monitoring in children with unexplained palpitations and significance of associated symptoms.

OBJECTIVE: To determine the yield of 48-hour Holter monitoring in children with unexplained palpitations and the significance of associated symptoms. METHODS: This descriptive study was conducted at the Children's Hospital and Institute of Child Health, Lahore, Pakistan, from January 1 to December 31, 2015. All children above 5 years of age with history of intermittent palpitations and normal basic cardiovascular workup were enrolled. A 48-hour Holter study was performed using Motara Holter Monitoring System. Frequency of various symptoms and abnormal Holter findings were analysed. SPSS 21 was used for data analysis. RESULTS: Of the 107 patients, 69(64.5%) were males and 38(34.5%) females. The median age was 10 years (interquartile range: 5-18 years). Most common concomitant symptoms with palpitation included syncope/pre-syncope in 35(32.7%) patients, chest pain 22(20.5%), shortness of breath 21(19.6%) and colour change/pallor 11(10.3%). Holter recording was positive in 40(37%) patients. Frequent premature ventricular contractions 12(11.2%) and atrial ectopic beats 9(8.4%) were the most common findings. Holter findings were significantly more common in patients with history of shortness of breath and colour change/pallor during palpitations (p=0.002). CONCLUSIONS: Extended 24-hour Holter monitoring in children with palpitations was an inexpensive, non-invasive investigation with a reasonably high diagnostic yield in detecting arrhythmias.

A case of polyglandular autoimmune syndrome type I with unusual presentation.

Eight years old girl presented with mucocutaneous candidiasis, nail dystrophy, twitching left half of face, progressively increasing generalized skin hyperpigmentation and hypopigmented patches over both shins. Her investigations revealed low intact PTH level, low serum cortisol, high ACTH, impaired glucose tolerance test and candidal onycomycosis. She was diagnosed as Polyglandular Autoimmune Syndrome (PGA) type I. She also developed idiopathic generalized epileptiform seizures and Alcaligenes faecalis septicemia not previously reported with PGA type I. The patient responded well to alphacalcidol, hydrocortisone, valproate sodium, topical antifungal and systemic antibiotics.

Predictors of clinical course of subacute sclerosing panencephalitis: experience at the Children's Hospital, Lahore.

OBJECTIVE: To determine the clinical course of Subacute Sclerosing Panencephalitis (SSPE) and different factors affecting the clinical course. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: The Children's Hospital, Lahore, from October 2005 to May 2008. METHODOLOGY: All serologically confirmed patients of SSPE were registered and clinical staging of these patients were done from stage-I to stage-IV. Clinical course of these patients was classified by using neurological disability index as fulminant, acute, subacute, and chronic course. Clinical course was analyzed for any difference with age, gender, immunization for measles, measles infection, nutritional status and correlation with age of onset of SSPE, (Spearman's correlation), using statistic package for social science (SPSS) V. 14. RESULTS: A total of 57 cases (41 males, 16 females) with mean age of 7.45 years were studied. Forty (71.4%) of them were vaccinated with single dose at about 9 months of age, 41% (23/57) had measles infections ≤ 2 years of age. Using the Neurology Disability Index for these patients 10.5% had fulminant, 17.5% had acute, 49.2% subacute and 22.8% had chronic course. Age, gender, age at measles infection, SSPE onset age and nutritional status were poor predictors of clinical course of SSPE. Unvaccinated patients showed significantly more rapid course of disease (p = 0.04). CONCLUSION: Clinical course of SSPE cannot be predicted at the onset of this catastrophic disorder. Children not immunized against measles had a significant rapid course of disease.

The effect of consecutive extended duty hours on the cognitive and behavioural performance of paediatric medicine residents.

OBJECTIVES: To compare the performance of paediatric medicine residents following a regular 6 hour and an extended 24 hour call and their own insight into their performance following each duty. METHOD: The study was conducted at The Children's Hospital, Lahore, from September 2007 to November, 2008. All tasks were performed twice, after 6 hour call and 24 hour long call, evaluating Reaction timer, Concentration test, Number Connection Test, State Trait Anger Anxiety Inventory (STAXI) response for trait anger and modified Wechsler Memory Scale inventory (WMS-R) for cognitive performance. Likert's self assessment tool was used for both set of performances. RESULT: Thirty two paediatric medicine residents (male 53.1%; female 46.9%) were enrolled in the study with identical duty structure performing 74 hours per week with mean age of 27.53 +/- 0.32 years and mean experience of 3.69 +/- 0.32 years. There was significant deterioration in both verbal recall and logic memory (mean difference in score of 1.81 (95% C.I 1.25-2.37, p < 0.001). Concentration test also showed significantly fewer responses (24 hour mean 239.56, 95% C.I. 228-251.13) vs (6 hour mean 258.94, 95% C.I. 247.42-270.46) in 5 minutes, p < 0.001. Reaction time, vigilance and hand eye coordination was significantly affected after an extended call, p < 0.001. Number of lapses in attention also rose significantly, p < 0.001. STAXI response showed significant increase in anger scores, p = 0.001. Despite the significantly poor performance, the residents could not appreciate the deterioration in their performance with Likert's self assessment score that differed only by 0.63 (95% CI -0.12-1.37), p = 0.1. None of the other factors studied correlated with deterioration in performance of any specific task except the length of duty hours. CONCLUSION: Continuous long stretch of duty causes significant deterioration in cognitive and behavioural status of residents. More importantly, the residents themselves are unable to appreciate this deterioration. Residents must be made aware of this deterioration as there is a higher risk of medical errors and bad judgments, risking patient safety.

Relationship of joint hypermobility and musculoskeletal problems and frequency of benign joint hypermobility syndrome in children.

BACKGROUND: The majority of individuals with joint hypermobility remain asymptomatic. However, those associated with Benign Joint Hypermobility Syndrome (BJHS), develop a number of systemic manifestations. Our objective was to determine the relationship between joint hypermobility and musculoskeletal problems, and frequency of BJHS in children and adolescents. METHOD: This cross-sectional observational descriptive study was conducted at Outpatient Department, The Children's Hospital, Lahore, Pakistan. A total of 872 individuals (4-18 year) were examined for hypermobile joints using Beighton score > or = 4. A questionnaire was implied to get data regarding demographic profile, musculoskeletal and extra-articular complaints, family history of joint problems and daily activity. Brighton's criteria were implied for diagnosis of BJHS. RESULTS: The frequency of joint hypermobility was 37.0%; male 39.5%, and female 34.2% (p = 0.1). There was a gradual decline in mean Beighton score with age. The female population showed increase in mean Beighton score around 16-17 year age. Arthralgias and back pains 7.7% vs. 1.6%, (p < 0.001), and hernias 2.5% (p = 0.03) were significantly higher in individuals with joint hypermobility. History of joint problems in the family was also significantly higher in children with joint hypermobility (p = 0.01). BJHS was detected in 4.8% children (male 3.6% and female 6.3%, p = 0.06). Arthralgias (51.0%), hernias (16.3%), joint dislocations (8.2%) and varicose veins (8.2%) were the most common presentations. CONCLUSION: BJHS is common among children. Arthralgias, back pains and hernias are significantly higher in these individuals.

Disproportionate short stature with multisystem involvement - Ellis-van Creveld syndrome.

Ellis-van Creveld syndrome is a rare form of mesenchymal - ectodermal dysplasia. It is an autosomal recessive disorder characterized by disproportionate short stature, postaxial polydactyly, ectodermal dysplasia and congenital heart defect. This case report presents two cases with classical clinical findings along with some unusual features including rhizomelic limb shortening, global developmental delay and bilateral lens subluxation not reported previously.

Immediate And Midterm Results Of Balloon Aortic Valvuloplasty In Children With Aortic Valve Stenosis With Special Reference To Dysplastic Aortic Valve.

BACKGROUND: This study was conducted to determine the immediate and midterm outcome of balloon aortic valvuloplasty in children from age 1 month to 16 years, with special reference to mean balloon to aortic valve ratio along with dooming versus dysplastic valve. METHODS: This was a retrospective cohort study. Patients who underwent balloon aortic valvuloplasty in a single tertiary care hospital were reviewed regarding immediate outcome, morphology of aortic valve, mean balloon to aortic valve ratio and complications during procedure from January 2006 till December 2016. RESULTS: Of 171 patients, 80.11% had fall to good results while 73.1% had adequate outcome. Mean gradient fall of more than 50% or Peak systolic gradient decreased significantly post ballooning, which indicates good results. The age ranges from 1-92 months, 89.4% patients from age group less than1 year had adequate outcome, (p=0.017). In terms of morphology, 55.6% cases had doming while 44.4% cases had dysplastic aortic valve. There was no significant difference between dysplastic and doming valves in terms of outcome (p=0.224). Only 6 patients (3.5%) developed significant aortic regurgitation. Regarding short-term and intermediate outcome 92% of the patients were free from a second intervention and there was no significant difference between complications regarding balloon to aortic valve ratio also. CONCLUSIONS: Our 10-year experience showed that balloon aortic valvuloplasty is a safe and effective therapy, irrespective of age groups. The complications rate is low and good outcome is achieved by keeping balloon to aortic valve ratio of ±0.9 irrespective of morphology of valve..

Comparison of three prognostic scores (PRISM, PELOD and PIM 2) at pediatric intensive care unit under Pakistani circumstances.

BACKGROUND: To compare the performance of the Pediatric Risk of Mortality (PRISM), the Pediatric Index of Mortality 2 (PIM 2) and Pediatric Logistic Organ Dysfunction (PELOD) scores at general pediatric intensive care unit in a developing country setting, investigating the relation between observed and predicted mortality. METHOD: A contemporary cohort study was undertaken at Pediatric Intensive Care Unit (PICU), Children's Hospital, Institute of Child Health, Lahore, Pakistan. 131 consecutive admissions fulfilling the inclusion criteria were enrolled in the study. PRISM, PIM 2 and PELOD calculations were performed as set out by original articles, using the published formulae. Statistical analysis included Standardized Mortality Rate (SMR), Hosmer Lemeshow goodness of fit test, receiver operating curve (ROC) characteristics and Spearman's correlation test. RESULTS: 139 patients were admitted to PICU. 38 presented exclusion criteria. 29 (28.7%) patients died. Estimated mortality was; PRISM: 19.7(19.5%), PIM: 21.01(20.5%) and PELOD:18.4(18.3%). SMR was 1.47 (SD +/- 0.19), 1.4 (SD +/- 0.19) and 1.57 (SD +/- 0.19), respectively. PRISM had better calibration (x2 = 7.49, p = 0.49) followed by PIM 2 (x2 = 9.65, p = 0.29). PIM 2 showed best discrimination with area under ROC = 0.88 (0.81-0.94) followed by PRISM 0.78 (0.67-0.89) and PELOD 0.77 (0.68-0.87). Spearman's correlation r between PRISM and PIM 2 returned 0.74 (p < 0.001). CONCLUSION: PRISM as well as PIM 2 is validated for PICU setting in Pakistani circumstances. PELOD performed poorly. PIM 2 has advantages over PRISM for stratification of patients in clinical trials.

Balloon valvuloplasty in dysplastic pulmonary valve stenosis: immediate and intermediate outcomes.

OBJECTIVE: To determine the immediate and intermediate outcome in dysplastic and doming pulmonary valve stenosis in children and to determine various factors associated with unsuccessful outcome. STUDY DESIGN: An interventional study. PLACE AND DURATION OF STUDY: The Children's Hospital, Lahore, Pakistan, from June 2006 to December 2012. METHODOLOGY: All patients presenting with severe pulmonary valve stenosis were enrolled in the study. Balloon valvuloplasty was performed on all patients. Successful outcome (residual gradient < 36 mmHg) was compared with matched doming pulmonary valve stenosis control group valvuloplasty. Difference in various quantitative variables was calculated using independent t-test and Mann Whitney U test. Categorical variables were compared using Chi square and Kruskal-Wallis test. Multivariate analysis was performed to determine various factors associated with outcome. Kaplan- Meier survival table was used to determine freedom from re-intervention proportions. RESULTS: One hundred and fifty two patients (Dysplastic group A, n=73; Doming group B, n=79) with median age of 24 months (range 3 - 192 months) and M:F; 2:1 were included in the study. Mean gradient decreased from 96 ± 33 mmHg to 29 ± 20 mmHg. Group A had significantly higher number of patients with unsuccessful outcome (9.6%, p=0.02). Preprocedure gradient > 75 mmHg was the most significant factor associated with unsuccessful outcome (p < 0.001). Median follow-up duration was 3 years (range 1 - 6 years). Freedom from re-intervention proportion at 1, 3 and 6 years was 91.3%, 86.7% and 78.9% respectively in group A compared to 100%, 96.5% and 96.5% respectively in group B. Immediate postprocedure gradient > 60 mmHg was the only significant factor associated with re-intervention in group A (p=0.001). CONCLUSION: The results from balloon valvuloplasty in dysplastic pulmonary valve were suboptimal when compared to doming valves. However, it provides a high freedom from re-intervention rate in intermediate follow-up. Intervention at moderate severity can result in better outcome.

Aneurysmal dilatation without distal obstruction: a rare complication of valved bovine jugular vein conduit.

Valved bovine jugular vein (Contegra) conduit is considered a suitable choice for pediatric population with congenital heart defect requiring right ventricle to main pulmonary artery connection. Intermediate follow-up studies have shown the propensity of developing distal conduit stenosis and valve thrombosis. We present a rare case of aneurysmal dilatation of the conduit leading to valve failure requiring conduit explantation.

Congenital heart defects associated with atrial heterotaxy.

OBJECTIVE: To determine the frequency of various congenital cardiac defects associated with atrial heterotaxy and the difference between spectrum of cardiac defects in right atrial isomerism (RAI) and left atrial isomerism (LAI) in these patients. STUDY DESIGN: Cross-sectional observational study. PLACE AND DURATION OF STUDY: Department of Cardiology, The Children's Hospital and Institute of Child Health, Lahore, from July 2006 to June 2011. METHODOLOGY: All children presenting to the hospital with suspected congenital heart defect were included in the study. Echocardiography based sequential segmental analysis was used, taking atrial symmetry, interrupted inferior vena cava (IVC) and juxtaposed aorta to IVC relation into account for identifying atrial heterotaxy. Various segmental defects were noted for RAI and LAI. RESULTS: Children had atrial heterotaxy (M:F; 1.7:1) with 61.6% (n=82) having LAI. Most common lesions associated with RAI included complete atrioventricular (AV) septal defect (n=48, 94.1%), single AV valve (n=45, 88.2%) and pulmonary outflow tract obstruction (n=41, 80.4%). LAI was associated with ventricular septal defect (n=68, 82.9%), atrial septal defect (n=63, 76.8%, mostly secundum variety), and miscellaneous left sided obstructive lesions. CONCLUSION: Atrial heterotaxy encompasses a wide spectrum of congenital cardiac defects. The frequency of various defects associated with RAI or LAI in local South Asian population of Lahore, Pakistan is similar to those as reported in the Western literature.

Optimal dose of adenosine effective for supraventricular tachycardia in children.

OBJECTIVE: To determine the optimal adenosine dose effective in supraventricular tachycardia (SVT) and underlying conditions affecting the effective dose in children. STUDY DESIGN: Experimental study. PLACE AND DURATION OF STUDY: Department of Cardiology, The Children's Hospital and Institute of Child Health, Lahore, from July 2008 to June 2011. METHODOLOGY: All children presenting with SVT were administered adenosine in rapid boluses according to PALS guidelines using incremental doses of 100, 200 and 300 µg/kg. The response was recorded on 12 lead ECG. Preexcitation was documented and echocardiography performed on all children after attaining sinus rhythm. Mann Whitney test and Kruskal-Wallis test were used as a test of significance to determine any difference in effective adenosine dose between normal heart and various underlying conditions, taking p < 0.05 as significant. RESULTS: Eighty five patients were treated for 110 episodes of SVT with adenosine. M:F ratio was 2.2:1. Their age ranged from 6 days to 14 years with mean age of 27.9 months. Adenosine was effective in reverting 97 episodes of SVT to sinus rhythm (88.2%). A dose of upto 100 µg/kg was only effective in 36.4% episodes of SVT. Two hundred µg/kg was effective in 44.3% of those not responding to 100 µg/kg dose (n = 31/70, cumulative 64.5%). A dose of 300 µg/kg was effective in further 25 patients not responding to lower doses (n = 25/38, 65.8%; cumulative 88.2%). Mean effective dose of adenosine was 185.3 + 81.0 µg/kg with median effective dose of 200 µg/kg. Significantly higher dose of adenosine was required in children with underlying pre-excitation, n = 18/97 (220.8 + 67.6 µg/kg vs. 177.2 + 81.9 µg/kg, p = 0.039). CONCLUSION: Adenosine is an effective medicine in treating SVT in children. A higher dose of 200 µg/kg may be used as first bolus particularly in children with pre-excitation.

A neonate with Poland-Mobius syndrome.

Poland-Mobius syndrome is a combination of two rare congenital syndromes characterized by congenital facial weakness, loss of abduction of eyes, limb defects, and absence or hypoplasia of the pectoral muscles. A patient with features of both the Mobius syndrome and the Poland syndrome is presented in this case report.

Socioeconomic status and impact of treatment on families of children with congenital heart disease.

OBJECTIVE: To assess the socioeconomic status, treatment being offered and the impact of congenital heart disease treatment on families. STUDY DESIGN: Observational study. PLACE AND DURATION OF STUDY: The Children's Hospital / Institute of Child Health, Lahore, from 1st March to 31st August 2010. METHODOLOGY: All patients undergoing a cardiac surgical or angiographic intervention were enrolled. Socioeconomic status was assessed by Kuppuswamy socioeconomic status scale with income group modification. The impact was measured by the source of financing, effect on family financing source and schooling and health of siblings. RESULTS: Of 211 patients undergoing treatment in the study period, surgery was the definitive treatment in 164 (77.7%) and angiographic intervention in 47 (22.3%) patients. Male to female ratio was 1.5:1. The mean age of the patient was 39.1 + 3.2 months (range 01 day to 15 years). Majority of families belonged to middle (66.4%, n=140) and lower (27%, n=57) socioeconomic class. The mean cost of medicines and disposables was PKR 78378.2 ± 8845.9 (US$ 933.1 ± 105.3) in open heart surgery, PKR 12581 ± 7010.8 (US$ 149.8 ± 83.5) in closed heart surgery and PKR 69091 + 60906 in angiographic interventions. In 63.1% patients, families contributed towards these costs either completely (12.3%) or partly (50.8%) with significant contribution from the hospital. Adverse effect on families ranged from leave without pay to losing jobs or business (46%), and selling their assets (11.3%). It also affected schooling and health of siblings (22.7% and 26.1% respectively). CONCLUSION: Majority of children with congenital heart disease belonged to middle and lower socioeconomic status in this study. Main definitive treatment was surgery. The cost of health care facilities posed a marked socioeconomic burden on those families.

A child with Roberts syndrome.

Roberts syndrome is a genetically determined rare birth defect causing, skeletal deformities, particularly symmetrical limb reduction and craniofacial anomalies. For any child with limb and craniofacial bony malformations, this syndrome should be considered in the differentials. Although this syndrome represents only a small proportion of the total number of individuals with limb deficiency, it is important to be identified in order to give accurate genetic counselling including recurrence risk in siblings and possible prenatal diagnosis. This is the case report of a 22 days old male infant who presented with defective development of all four extremities and craniofacial abnormalities. The overall clinical and radiological features were suggestive of Roberts syndrome.