Case Analysis of Pediatric Patients with Hypertrophic Cardiomyopathy

Abstract

This ten year cohort study from 2012-2021 is analyzing data from twenty-two pediatric patients from Latvia diagnosed with hypertrophic cardiomyopathy. All pediatric patients in Latvia with hypertrophic cardiomyopathy (HCMP) are treated and examined in the Children's University Hospital in Riga. Alll data was collected from this hospital. During this ten-year period, patients with secondary causes such as hypertension, coarctation and children of mothers with diabetes were excluded. Patients were diagnosed throguh family history of cardiomyopathies, onset of symptoms, antenatal screening, physical abnormalities, echocardiography, and electrocardiography (ECG) showing changes of left ventricular hypertrophy and overload. Five (23%) patients had been diagnosed by the age of 1 year and the median age of diagnosis was 9.6 years of age. Three patients had Danon disease, one had Pompe disease, and one had Noonan syndrome. 21 patients (95,4%) underwent a genetic testing and 10 of them (47,6%) had a confirmed family history, indicating the presence of symptoms related to metabolic or genetic diseases, or instance of early death among close relatives. Eight patients (80%) with a positive family history of HCMP also had a positive genetic testing. Twelve patients (54,5%) underwent cardiac MRI and nine of them (40,9%) had late gadolinum enhancement. Two patients died over the ten-year study review: one due to stroke and the other due to severe right sided pneumonia with hypoxic brain damage. Left ventricular hypertrophy was seen on ECG in sixteen patients (73%) and only three (13.6%) had a hearth rhythm disorder on Holter ECG, showing premature ventricular contraction at the time of diagnosis. By the las follow up, five patients had a rhythm disorder on Holter electrocardiography. Four patients (18.2%) required implantation of cardioverter-defibrillator (ICD). -Our research provides important information about the clinical profile, genetic traits, and prognoses of juvenile HCMP patients in Latvia. The incidence of HCMP in pediatric population in Latvia during the 10-year cohort 2012-2022 was 0.006% with the median age at the time of diagnosis 9.6 years. Although the results align with previous research in several areas, subtle differences in genetic profiles, demographics, and treatment strategies exist. -HCMP is a heterogenous disease affecting the sarcomere. Our data underscore the significance of genetic testing in children with HCMP, 76% of the patient’s genetic background of the disease was revealed. - Beta-blockers was the therapy of choice for most patients since it has demonstrated good results for both risk reduction and symptoms relief according to the guidelines recommendations. - The identification of those who have a high risk of SCD highlights the need of risk assessment and the execution of therapies such as ICD implantation. -Optimizing treatment approaches and diagnostic procedures in pediatric HCMP need further research.