Criss cross heart: A challenging diagnosis.

Crisscross heart (CCH) is a rare anomaly characterized by twisting of the inflow streams of right and left ventricles. The etiology of CCH is not known. Its frequency is less than 8/10, 00,000 live births. Cyanosis is common in neonatal age, while shortness of breath is the main presenting complaint in older children. We present a case series of CCH with array of associations, diagnosed by echocardiography. CCH is a rare heart defect that can be diagnosed by echocardiography by a vigilant operator. Early diagnosis is the key to successful management resulting in increased survival rate, better outcomes and improved quality of life.

Kawasaki disease: Clinico-laboratory spectrum and outcome in a cohort of children treated at a tertiary care hospital in Islamabad, Pakistan.

OBJECTIVE: To describe the demographics; clinical, laboratory, echocardiographic findings; treatment and outcome in a cohort of children with Kawasaki disease in a tertiary care hospital. METHODS: This is a descriptive, observational, retrospective cohort study conducted at Shifa International Hospital, Islamabad, from January 2013-June 2019. Children who met the criteria for Kawasaki disease according to the American Heart Association and American Academy of Pediatrics guidelines were included. RESULTS: A total of 25 children who met the criteria of Kawasaki disease were included. Their mean age was 43 months (4-150 months). Majority (76%) were males. Eighteen (72%) had complete Kawasaki disease and 7 (28%) had incomplete Kawasaki disease. Fever (> five days) was present in 20 (80%) patients. Eight patients (32%) had echocardiographic changes, out of which two patients (25%) had complete Kawasaki disease and six patients (75%) had incomplete Kawasaki disease. Intravenous immunoglobulin was given to all patients. Fifteen children (60%) received intravenous immunoglobulin within 10 days of fever. None required a second dose. All patients received high dose aspirin at diagnosis which was reduced to antiplatelet dose after resolution of fever for ≥48hrs. Eighteen patients (72%) came for regular follow up. Follow up at 6 months showed complete resolution of echocardiographic changes in six patients (75%), 1 (12.5%) was lost to follow up and one (12.5%) child had persistent coronary artery dilatation. CONCLUSION: Complete KD was present in 72% of our cohort of children. Coronary artery abnormalities were present in one third of these children, at younger age and more common in those with incomplete KD but recovered in most.

Modulation of ADAR mRNA expression in patients with congenital heart defects.

Adenosine (A) to inosine (I) RNA editing is a hydrolytic deamination reaction catalyzed by the adenosine deaminase (ADAR) enzyme acting on double-stranded RNA. This posttranscriptional process diversifies a plethora of transcripts, including coding and noncoding RNAs. Interestingly, few studies have been carried out to determine the role of RNA editing in vascular disease. The aim of this study was to determine the potential role of ADARs in congenital heart disease. Strong downregulation of ADAR2 and increase in ADAR1 expression was observed in blood samples from congenital heart disease (CHD) patients. The decrease in expression of ADAR2 was in line with its downregulation in ventricular tissues of dilated cardiomyopathy patients. To further decipher the plausible regulatory pathway of ADAR2 with respect to heart physiology, miRNA profiling of ADAR2 was performed on tissues from ADAR2-/- mouse hearts. Downregulation of miRNAs (miR-29b, miR-405, and miR-19) associated with cardiomyopathy and cardiac fibrosis was observed. Moreover, the upregulation of miR-29b targets COL1A2 and IGF1, indicated that ADAR2 might be involved in cardiac myopathy. The ADAR2 target vascular development associated protein-coding gene filamin B (FLNB) was selected. The editing levels of FLNB were dramatically reduced in ADAR2-/- mice; however, no observable changes in FLNB expression were noted in ADAR2-/- mice compared to wild-type mice. This study proposes that sufficient ADAR2 enzyme activity might play a vital role in preventing cardiovascular defects.

Determining the factors causing delayed referral for fetal echocardiography at a tertiary care hospital.

OBJECTIVE: To determine the factors causing delayed referral for fetal echocardiography at a tertiary care hospital. BACKGROUND: Timely referral for fetal echocardiogram is considered essential for identification of congenital heart diseases, interventions, and counseling of parents. The present study highlights the factors associated with delayed referral for fetal echocardiography. MATERIAL AND METHODS: This prospective study includes a total of 200 pregnant females who were referred for fetal echocardiography. The data collected included referral indications, gestational age, maternal age, educational status, referral personale, and final diagnosis on echocardiography. RESULTS: The mean gestational age of presentation was found to be 33 weeks [standard deviation (SD), 4.8 weeks]. Among 200 females, 24% were referred at second trimester, 69% presented at third trimester, and 6% of the females presented at term. No female presented before 18 weeks of gestation. Our results showed that most of the females (94%) were referred by their gynecologist. Eighty-nine percent of the females were booked since the first trimester. The most common indication for referral was unexplained death of children (60%). Of 200 pregnant women, 40% were found to be illiterate and 60% were educated. However, the mean gestational age of presentation of illiterate females was 32.9 weeks (SD, 4.2 weeks), and for educated women it was 33 weeks (SD, 5 weeks). Congenital heart disease was diagnosed in 12% of the cases. CONCLUSION: On the basis of the results, it could be concluded that delayed presentation for fetal echocardiography was not associated with the educational status of females. By contrast, referral personnel were found to be responsible for the delayed referral of females. Therefore, we strongly recommend that both pregnant women and gynecologists be educated about the importance of timely diagnosis for identification of congenital heart diseases.

Transcatheter closure of Patent Ductus Arteriosus through only venous route.

Patent ductus arteriosus is a common congenital cardiac defect comprising 5-10% of all these defects in term neonates. Although open chest and video-assisted interruption are still in use, transcatheter occlusion has rapidly become the first choice for patent ductus arteriosus closure in the appropriate patient. Percutaneous closure of patent ductus arteriosus is widely done by transvenous approach guided by aortic access. We present the case of a 2 year old girl who underwent patent ductus arteriosus device occlusion with transvenous access only.

CHANGING CLINICAL PROFILE OF ACUTE RHEUMATIC FEVER AND RHEUMATIC RECURRENCE.

BACKGROUND: Clinical profile of acute rheumatic fever and rheumatic recurrence seems to have changed in countries where rheumatic fever is still endemic. The objectives of this study were to compare clinical profile and outcome of patients suffering initial and recurrent episodes of acute rheumatic fever in children. METHODS: This prospective study was conducted in two tertiary care hospitals from January to June 2011. The diagnosis was based on the modified Jones criteria. Sixty children were included in the study, 15 having first episode of rheumatic fever and 45 with rheumatic recurrence. The severity of carditis was assessed by Clinical and echocardiography means: RESULTS: Carditis was the commonest presentation in both first (80%) and recurrent attacks (100%). Arthritis was seen in 60% of children with first episode and in 26.7% with recurrence. The frequency of subcutaneous nodules, invariably associated with carditis, was very high (33.3% in the first and 48.3% in recurrent episodes). Carditis was generally mild during first episode (53.3%) and severe with rheumatic recurrence (55.6%). There was no death in either group. One patient with severe mitral regurgitation and rheumatic recurrence underwent mitral valve repair for intractable heart failure. CONCLUSION: Clinical profile of rheumatic recurrence and acute rheumatic fever has changed. Rheumatic recurrence is associated with severe carditis. Carditis is more common than arthritis even in the first attack. Sub-cutaneous nodules are a frequent finding invariably associated with carditis.

Iatrogenic Cushing's syndrome in children presenting at Children's Hospital Lahore using nappy rash ointments.

OBJECTIVE: To study the characteristics of infants and children presenting with iatrogenic Cushing's Syndrome due to nappy rash ointments. METHODS: The descriptive study was conducted at the Children's Hospital, Lahore, from April to September 2013, and comprised patients presenting with cushingoid features and history of using nappy rash ointments. Patients having Cushing's Syndrome due to causes other than iatrogenic were excluded and so were those taking oral or parenteral steroids due to skin allergy, renal or respiratory disease. Demographic data, history and examination of all patients were recorded on a proforma and results were analysed using SPSS 16. RESULTS: Of the total 18 patients, 13(72%) were girls and 5(27%) were boys. Eight (44.4%) patients were younger than 6 months, 6(33.3%) were between 6 months to 1 year, while 4(22.2%) were between 12 and 18 months of age. Clobetasol alone was the most frequently used agent responsible in 13(72%) cases. Duration of use of steroid ointment was as short as 3 weeks to as much as 1 year. All the patients were using disposable diapers. Ointment was prescribed by a doctor in 5(27%) cases and self-prescribed (relative or neighbour) in 13(72%). CONCLUSIONS: Self-medication and prolonged use of potent steroid ointments are major contributors in development of iatrogenic Cushing's Syndrome in infants and children. Younger age, female gender and use of disposable diapers were other important predisposing factors.

Variations of pulmonary arteries and other associated defects in Tetralogy of Fallot.

BACKGROUND: The objective of study was to determine pulmonary artery variations and other associated cardiac defects in patients with Tetralogy of Fallot. This cross-sectional, descriptive study was carried out at The Children's Hospital and the Institute of Child Health, Lahore, from January 2006 to December 2012. All patients with Tetralogy of Fallot, who underwent cardiac catheterization during this period, were included. Standard cine-angiograms were done to record the pulmonary artery sizes and associated cardiac defects. DESCRIPTION: A total of 576 patients with Tetralogy of Fallot were catheterized. Pulmonary Artery abnormalities were present in 109 (18.92%) patients. The commonest abnormality was isolated Left Pulmonary Artery stenosis (n = 60, 10.4%) followed by supra-valvular stenosis (n = 9, 1.6%). Left Pulmonary Artery was absent in seven patients(1.2%), while 1 patient (0.2%) had both absent right and left Pulmonary Arteries with segmental branch pulmonary arteries originating directly from Main Pulmonary Artery. Associated cardiac lesions included right aortic arch in 72 (12.5%), additional muscular Ventricular Septal Defect in 31 (5.4%), Patent Ductus Arteriosus in 31 (5.4%), bilateral Superior Vena Cava 36(6.2%), Atrial Septal Defect 4(0.7%) and Major Aortopulmonary Collateral Arteries in 75(13%) patients. Significant coronary artery abnormalities were present in 28(4.9%) children. CONCLUSION: Pulmonary artery abnormalities were present in 18.92% of patients with Tetralogy of Fallot. Isolated Left Pulmonary Artery origin stenosis was the most common abnormality. Significant associated cardiac lesions including Patent Ductus Arteriosus , additional muscular Ventricular Septal Defect, coronary artery abnormalities, bilateral Superior Vena Cava, Atrial Septal Defect and Major Aortopulmonary Collateral Arteries were present in one-third of the patients.

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.

Three cases of macrofollicular variant of papillary thyroid carcinoma.

The macrofollicular variant of papillary thyroid carcinoma (MFPTC) is a well-established entity with characteristic large follicles containing pale colloid and lined by cells with nuclear features of papillary thyroid carcinoma (PTC). In this study, we present three cases of MFPTC, along with a brief review of the literature. For all three of our cases, the histology of the resected specimen showed predominantly macrofollicular structures lined by cells with nuclear characteristics of PTC. Immunohistochemically, the three cases show positivity for galactin-3, cytokeratin-19, and HBME-1. These cases will help us in understanding the distinction from other benign and malignant follicular lesions of the thyroid, which is of utmost importance. The key to diagnosis is a high-power examination of any macrofollicular lesion of the thyroid.