Deformation patterns in genotyped patients with hypertrophic cardiomyopathy

Aims Echocardiographic strain imaging with two-dimensional speckle tracking is an emerging tool for defining cardiac function and identifying preclinical hypertrophic cardiomyopathy (HCM). In HCM, a reverse septal contour is a strong predictor of mutation positive sarcomeric HCM. The objective of this study was to determine whether left ventricular (LV) deformation patterns can differentiate between genotype positive and negative patients within a large HCM cohort. Methods and results One hundred and thirty one patients (89 males, age 55 +/- 15 years) with clinically diagnosed HCM underwent comprehensive transthoracic echocardiography inclusive of LV strain imaging, LV dimensions and ejection fraction, septal contour and thickness, and identification of obstructive physiology. Longitudinal peak systolic strain was assessed from 17 LV myocardial segments blinded to the patient's genetic test results derived from comprehensive genotyping of nine myofilament HCM-associated genes. Genotyping revealed that 51 of 131 patients (39%) were mutation positive for sarcomeric/myofilament-HCM (genotype positive). Regional strain was lower in genotype-positive patients in mid inferoseptal (P = 0.004), basal anteroseptal (P = 0.04), and basal inferoseptal segments (P = 0.002) compared with HCM patients lacking a mutation (genotype negative). Strain patterns in reverse-curve, genotype-positive HCM differed significantly from genotype negative, sigmoidal HCM in multiple segments. However, when comparing genotype-negative and genotype-positive patients with the same septal morphology, there were no significant regional strain differences. Septal thickness positively correlated with global and basal anteroseptal longitudinal strain (r = 0.34 and r = 0.54, respectively, P < 0.0001). Conclusion Significant regional strain differences in genotyped HCM patients are dependent upon septal morphology or thickness, not genotype. Phenotypic expression of deformation patterns appears heterogeneous.