Objectives: To detect the early outcome of total correction of Tetralogy of Fallot (TOF) in adult patients of age 16 years or above. Study Design: Retrospective descriptive case series. Setting: Paediatric Cardiac Surgery Department of Faisalabad Institute of Cardiology, Faisalabad. Period: October 2016 to June 2019. Material & Methods: All consecutive patients of age 16 years or above who underwent total correction for TOF during study period were included. Surgical procedure and early outcome measures were recorded and analyzed. Results: Sixty nine patients underwent total correction for TOF during the study period. Majority of patients (n=55, 79.7%) were between16 to 25years of age. Male dominated the study population (56.5%, n=39) with male to female ratio 1.3: 1. Nine patients (13%) had coiling of MAPCA before surgery while prior palliation with Blalock Taussig shunt (BT Shunt) was seen in 5.8 % patients (n=4). All patients were operated with trans-atrial trans-pulmonary approach (n=69, 100%). Pulmonary artery was augmented with pericardial patch in 22 cases (32%) while left pulmonary artery (LPA) augmentation was done in two patients. Pulmonary valve annulus divided in 22 % of patients (n=15), RVOT was reconstructed with trans-annular pericardial patch in 10.1% patients (n=7) while Pulmonary valve was replaced with tissue valve in 7 patients (10.1%). In one patient RV to PA continuity was established with contegra. Post operatively Inotropic support was given for initial 39 ±45 hours, mean ICU stay was 39±75 hours, mean chest drainage 1086±741 ml and mean requirement for blood transfusion was 2.2 ±2.4 units. As regard early complications, six patients had tiny to small residual VSD (8.7%) while no patient developed complete heart block. Two patients had neurological damage (2.9%), one patient developed renal failure (1.45%) while chest reopening was done in two patients due to postoperative bleeding and/ or tamponade (2.9%). There was death of two patients (2.9%), one had renal failure due to low cardiac output (LCOS) and the other had stroke. Conclusion: The early outcome of complete repair of TOF in patients 16 years and above is good with a negligible mortality and limited number of complications.

Cardiac conduction disease (CCD), which causes altered electrical impulse propagation in the heart, is a life-threatening condition with high morbidity and mortality. It exhibits genetic and clinical heterogeneity with diverse pathomechanisms, but in most cases, it disrupts the synchronous activity of impulse-generating nodes and impulse-conduction underlying the normal heartbeat. In this study, we investigated a consanguineous Pakistani family comprised of four patients with CCD. We applied whole exome sequencing (WES) and co-segregation analysis, which identified a novel homozygous missense mutation (c.1531T>C;(p.Ser511Pro)) in the highly conserved kinase domain of the cardiac troponin I-interacting kinase (TNNI3K) encoding gene. The behaviors of mutant and native TNNI3K were compared by performing all-atom long-term molecular dynamics simulations, which revealed changes at the protein surface and in the hydrogen bond network. Furthermore, intra and intermolecular interaction analyses revealed that p.Ser511Pro causes structural variation in the ATP-binding pocket and the homodimer interface. These findings suggest p.Ser511Pro to be a pathogenic variant. Our study provides insights into how the variant perturbs the TNNI3K structure-function relationship, leading to a disease state. This is the first report of a recessive mutation in TNNI3K and the first mutation in this gene identified in the Pakistani population.

Objectives: To identify the pattern of un-operated grown up congenital heart defects at our tertiary care cardiac institute. Methods: This is a prospective observational study. All un-operated GUCH patients who presented to Faisalabad Institute of Cardiology (FIC) from May 2017 to 30th July 2017 were enrolled. Diagnosis was established on Transthoracic Echocardiography done by dedicated pediatric cardiologist at FIC. The mode of presentation, presenting complaints, type, severity, complications and co-morbid conditions of CHD were recorded. Results: A total of 200 consecutive patients were enrolled. Mean age was 29.92 ± 11.21 years. There were 104 females (52%) and 96 males (48%). Majority of patients presented in Out-Patient Department (84%) while 16% presented in emergency (n=32). The most common cardiac anomalies were: Atrial Septal Defect (ASD) 41.5% (83), Tetralogy of Fallots (TOF) 42 (21%), Ventricular Septal Defect (VSD) 28 (14%) and Patent ductus arteriosus (PDA) 8 % (16). Cyanotic CHD was present in 43% (86) while TOF was the most common of it. The disease was of moderate complexity in 77.5% patients. Certain complications like Pulmonary hypertension 69(34.5%), Eisenmenger 33(16.5%), Rhythm disturbances 15 (7.5%), Infective endocarditis 5(2.5%) were also present along with co-morbid conditions like coronary artery disease (1.5% and systemic hypertension (2.5%). Dyspnea on exertion (59.5%) followed by cyanosis (41%) were the most common presenting complaints. The most common reason for hospital admission was cardiac signs and symptoms (19.5%) followed by cardiac catheterization (10.5%). Conclusion: The ASD, TOF, VSD and PDA remain the most common CHD in descending order while pulmonary hypertension, Eisenmenger, heart failure, arrhythmias, infective endocarditis and stroke were the common complications of CHD at this particular age. doi: https://doi.org/10.12669/pjms.35.4.878 How to cite this:Mughal AR, Tousif R, Alamgir AR, Jalal A. Pattern of un-operated Grown Up Congenital Heart (GUCH) patients presenting to a Tertiary Care Cardiac Institute of Punjab. Pak J Med Sci. 2019;35(4):---------. doi: https://doi.org/10.12669/pjms.35.4.878 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Congenital heart disease (CHD) is the most common structural anomaly in Down syndrome children with a variable spectrum all over the world including Pakistan. Objectives: To determine the spectrum of congenital heart disease in Down syndrome at Faisalabad Institute of cardiology (FIC) Faisalabad. Study Design: Retrospective descriptive case series. Setting: Pediatric Cardiology Department of FIC, Faisalabad. Period: From January 2013 to June 2019. Material & Methods: All Consecutive patients of Down syndrome who underwent diagnostic Echocardiography at FIC were enrolled. Those having confirmed diagnosis of CHD were included in the study. Results: Out of 321Down syndrome children77.6% (n=249) had CHD and were enrolled for study. Male were 53.8% (n=134) while 46.2% were female (n=115). Majority of patients were below one year of age (57%, n=142). Acyanotic CHD was seen in 83.1 % of patients (n=207) while 16.9 % (n=42) had cyanotic CHD. Isolated cardiac defects was seen in 73.1% of patients (n=182) while 26.9 % had mixed cardiac lesions (n=67). Ventricular septal defect (VSD) was the most common (22.1%, n=55) solitary lesion followed by 14.5% cases of atrioventricular septal defect (AVSD), PDA (13.3%) and ASD (8.8%). Tetralogy of Fallot (TOF) was seen in 8.4%, AS in 1.2% while TGA, Tricuspid atresia, pulmonary valve stenosis, coarctation and Ebstein anomaly (0.8% each) were less common solitary defects. In mixed cardiac defects VSD with PDA was the most common (n=13, 5.22%) followed by VSD with ASD (n=12, 4.81%) and VSD with RVOTO (n=8, 3.21%). In AVSD cases, RVOTO was present in 2.81% (n=7), PDA with ASD was seen in 2% cases (n=5) while CcTGA, DORV, Pulmonary atresia were least common. Pulmonary Hypertension was present in 54.2% cases of left to right shunt lesions. Conclusion: Incidence of CHD in referred cases of Down syndrome is high (77.6%) at our setup. Acyanotic congenital heart defects are more common. VSD is the most common acyanotic CHD followed by AVSD while TOF is the most common cyanotic CHD.

Objectives: To determine the spectrum of pediatric heart disease in a newly established cardiac centre in south Punjab. Study Design: Descriptive Observational Case Series. Setting: Department of Pediatric Cardiology of Cardiac Center Bahawal Victoria Hospital (BVH) Bahawalpur. Period: July 2019 to December 2019. Material & Methods: All consecutive patients of any gender, age range from first day of life to18 years, diagnosed as having heart disease (congenital/ acquired) on Echocardiography were enrolled. Patients of isolated bicuspid aortic valve, premature neonates having PDA or those who already had device or surgical intervention done were excluded from the study. The spectrum of the heart diseases in children was assessed by categorizing them as having acquired, acyanotic and acyanotic heart defects. Results: A total of 624 patients were enrolled in the study on the basis of inclusion criteria. There were 56.7 % male (n=354) while 43.3% were female (n=270) with male to female ratio 1.3:1. Majority of the patients were of infant age group (66%, n=412). Congenital heart disease (CHD) was present in 87% of the patients (n=543) while 13% (n=81) had acquired heart disease (AHD). Acyanotic heart lesions were found in 73.1% of patients while cyanotic congenital heart diseases (CCHD) were 26.9 %. Ventricular septal defect (VSD) was the most common CHD (33%), followed by Atrial Septal defect (14.9%) and Patent ductus arteriosus (13.1%). TOF was the most common CCHD (10.1%) followed by TGA (7.4%). Among AHD, 55.6% were of Rheumatic heart disease (RHD) followed by Cardiomyopathy (27.2), pericardial effusion (8.6%) and infective endocarditis (4.9%). Conclusion: The VSD, ASD, PDA, TOF and TGA remain the most common CHD in descending order while RHD is the most common acquired heart disease in children at our centre.