Comparison Between Clinical and Echocardiographic Findings in Infants and Children Diagnosed with Hypertrophic Cardiomyopathy

Background: Hypertrophic cardiomyopathy is a rather common hereditary disease with an autozomal dominant character, caused by mutations of genes that code for proteins of the cardiac sarcomere. The observed prevalence of this disease is much lower in pediatric patients compared to adults, because it’s late gene expression. Hypertrophic cardiomyopathy presenting in infancy has been shown to have a very high mortality.

Methods: Thirty-nine patients diagnosed with hypertrophic cardiomyopathy in the III^rd Pediatric Cardiology Department from Tîrgu Mureş were included in this study. Patients were divided into two groups: group 1 – patients diagnosed during infancy, group 2 – patients diagnosed after 1 year of age. Data regarding familial and personal history, and echocardiographic findings were compared between these two groups.

Results: Group 1 included 17 patients and group 2 - 22 patients. Positive familial history was found in both groups (group 1 – 6 cases, group 2 – 3 cases), all of them in obstructive forms. Syncope was found in four cases, all of them in group 1 (p=0.02; odds ratio 15; 95% CI, 0.7473 to 301.1). While in group 1, asymmetric septal hypertrophy was predominant (64.7%), in group 2 – concentric left ventricular hypertrophy predominated (54.5%). Obstructive hypertrophic cardiomyopathy was found in 14 patients in group 1 (82.4%) compared to 13 patients in group 2 (59.1%). Diastolic function was impaired more predominantly in group 1 (p=0.0274; odds ratio 11.67; 95% CI, 1.526 to 89.17).

Conclusions: hypertrophic cardiomyopathy has an extensive clinical variability with regard to age of onset, severity and progression of disease.