Clinical and morphological variables influencing the results of genetic testing of patients with hypertrophic cardiomyopathy
Abstrakt
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease with vast genetic heterogeneity. Genetic testing of sarcomeric genes yields a positive result in a limited number of HCM patients.
Methods: We tested a cohort of 48 unrelated consecutive patients with HCM for mutations in MYH7, MYBPC3, TNNI3 and TNNT2 genes and compared clinical and echocardiographic parameters between groups with positive and negative results of genetic testing. Results: We identified genetic variants inside the coding exons and flanking intronic regions of the MYH7, MYBPC3, TNNI3 and TNNT2 genes in 19 of 48 HCM patients (40 %).
Younger age at diagnosis (48, IQR 39.5-55.5 vs. 56, IQR 49-70, p 0.028) and reverse curvature septum (56% vs. 9%, OR 12.5, 95% CI 1.760-88.78, p 0.012) were associated with a positive result of genetic testing. Sigmoid septum was associated with older age at diagnosis (60, IQR 55.75-68.75 vs. 49, IQR 38-59.5, p 0.017).
Conclusion: Our study shows that septal morphology and age at diagnosis could be stronger predictors of positive results of genetic testing than presence of family history of HCM and could be used for a selection strategy in HCM genetic analysis.