Phenotypic expression, genotypic profiling and clinical outcomes of infantile hypertrophic cardiomyopathy: a retrospective study.

BACKGROUND: Infantile hypertrophic cardiomyopathy (HCM) is a heterogeneous disorder. Apart from registries in high-income nations, there is a shortage of data on the aetiological basis of infantile HCM in low- and middle-income nations. This study attempts to characterise the phenotypic expression, genetic architecture and short-term clinical outcomes of infantile HCM from a South Asian tertiary referral centre. METHODS: This study includes all infants from the Amrita HCM cohort between January 2011 and July 2021. Clinical history, ECG, echocardiographic data, and genetic analyses were evaluated. RESULTS: 34 patients with infantile HCM were diagnosed at a median age of 3.7 months (IQR 1-6 months). Underlying aetiologies were RASopathy (n=13; 38%), non-syndromic (n=12; 35%) and inborn errors of metabolism (n=9; 27%). Genetic analysis was done in 20 patients (59%) with a yield of 90%. Clinical presentation included failure to thrive (n=29; 85%), dyspnoea on exertion (n=23; 68%) and clinical heart failure (n=24; 71%). Echo showed concentric left ventricular hypertrophy in 22 patients (65%), obstructive HCM in 11 patients (32%) and left ventricular systolic dysfunction in 6 patients (18%). The mortality rate was 10.0 deaths per 100 patient years over a median follow-up period of 3.1 years. The main risk markers for mortality were the age at diagnosis, gender and concentric Left ventricular hypertrophy. CONCLUSIONS: This cohort demonstrates the morphological, functional and genetical heterogeneity of infantile HCM, enunciating the need for integration of cardiology, metabolic and genetic services to achieve optimum outcomes in these patients.

Original Article--Clinical and Procedural Characteristics of Successful Transcatheter Device Closure of Ostium Secundum Atrial Septal Defect in Symptomatic Children Weighing <15 kg: A Retrospective Study Spanning One Decade From South India.

Objectives: This retrospective study sought to determine the feasibility of transcatheter atrial septal defect device closure in patients less than 15 kg, as well as to assess complication rates and the reasons for unsuccessful device closure. Background: In general, the risks associated with transcatheter atrial septal defect device closure are believed and reported to be relatively low, but the evidence stems from trials involving adults and older children. Current guidelines do not recommend atrial defect closure in device closure in children <15 kg, due to limited data available for feasibility and safety of device closure in this group of patients. Methods: Retrospective review of all patients who underwent elective transcatheter closure of ostium secundum atrial septal defect between September 2013 to February 2022. We excluded all children above 15 kg, as well as those with complex congenital heart defects. Major and minor complications were predefined and indications for referral were evaluated. Results: We identified 81 patients meeting criteria with a median procedural age of 3 years (1 year-8 years), and median weight of 12 kg (4-15 kg). Successful device closure was achieved in 95.1% (77/81) and in 4.9% (4/81), the procedure was aborted. There was 1 major (1.2%) and 1 minor (1.2%) complication, total complication rate (2.4%). 100% of the referrals had right heart enlargement and exertional dyspnoea, 18.5% had recurrent lower respiratory tract infection and 9.9% had failure to thrive. Rate of resolution of residual shunt was 95.1%. at post-procedure day 1 and 98.8% at post-procedure 3 and 6 months respectively. Conclusions: Percutaneous atrial septal defect closure can be done effectively and safely in symptomatic children weighing less than 15 kg in experienced centres. However, deferral for closure until the historically established timeline of around 4-5 years of age should be strongly considered in asymptomatic children.

Total Anomalous Pulmonary Venous Connection Repair: Single-Center Outcomes in a Lower-Middle Income Region.

BACKGROUND: The management of total anomalous pulmonary venous connection (TAPVC) in neonates and infants is resource-intensive. We describe early and follow-up outcomes after surgical repair of isolated TAPVC at a single institution in a resource-limited setting. METHODS: The data of 316 consecutive patients with isolated TAPVC undergoing repair (January 2010-September 2020) were reviewed. The study setting was a tertiary hospital in southern India that provides subsidized or charitable care. Standard surgical technique was used for repair, circulatory arrest was avoided, and suture-less anastomosis was reserved for small or stenotic pulmonary veins. Surgical and postoperative strategies were directed toward minimizing intensive care unit (ICU) stay. RESULTS: 302 (95.6%) patients were infants and 128 patients (40.5%) were neonates; median weight was 3.3 kg (IQR 2.8-4.0 kg). Obstruction of the TAPVC was seen in 176 patients (56%) and pulmonary hypertension in 278 patients (88%). Seventeen (5.4%) underwent delayed sternal closure. The median postoperative ICU stay was 120 h (IQR 96-192 h), mechanical ventilation was 45 h (IQR 24-82 h), and hospital stay was 13 days (IQR 9-17 days). There were three in-hospital deaths (0.9%). Over a median follow-up period of 53.3 months (IQR 22.9-90.4), pulmonary vein restenosis was seen in 32 patients (10.1%) after a mean of 2.2 months (1-6 months). No perioperative risk factors for restenosis were identified. CONCLUSIONS: Using specific perioperative strategies, it is possible to correct TAPVC with excellent surgical outcomes in low-resource environments. Late pulmonary vein restenosis remains an important complication.