| Popis: |
Background In children with hypertrophic cardiomyopathy (HCM), the genotype-phenotype association of abnormal electrocardiographic (ECG) features in the backdrop of gene positivity have not been well described. This study aimed to describe abnormal ECG findings in children with HCM harboring genetic variants and determine the association with Major Adverse Cardiac Events (MACE). Methods We retrospectively analyzed 81 variants positive, phenotype positive (V+P+), 66 variant positive, phenotype negative (V+P-), and 85 non-sarcomeric subjects. We analyzed ECG findings and clinical outcomes in these three groups. Results Combined ST and T wave changes and pathologic Q waves were the most common abnormalities in variant and non-sarcomeric subjects. The V+P+ group showed higher occurrence of ST segment changes and T wave abnormalities compared to V+P- group. Independent predictors of MACE included ST segment changes, (OR=3.54, CI= 1.20-10.47, p=0.022). T wave changes alone did not predict outcome (OR=2.13, CI= 0.75-6.07, p=0.157), but combined repolarization abnormalities (ST+T changes) were strong predictors of MACE (OR= 5.84, CI=1.43-23.7, p=0.014) than ST segment changes alone. Maximal wall z-score by echocardiography was a predictor of MACE (OR=1.21, CI=1.07-1.37, p=0.002). Despite significant myocardial hypertrophy (z score>4.7), voltage criteria for LVH were much less predictive. In the non-sarcomeric group, RVH was significantly associated with MACE (OR=3.85, CI= 1.08-13.73, p= 0.038). Conclusion Abnormal ECG findings described in subjects with known genetic status and myocardial hypertrophy, may add incremental value to the diagnosis and surveillance of disease progression in children with HCM. Select ECG findings, particularly repolarization abnormalities, may serve as predictors of MACE. |
