Pattern of un-operated Grown Up Congenital Heart (GUCH) patients presenting to a Tertiary Care Cardiac Institute of Punjab.

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.

A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family.

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.

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.