The concepts underlying hypertrophic cardiomyopathy (HCM) pathogenesis have evolved greatly over the last 60 years since the pioneering work of the British pathologist Donald Teare, presenting the autopsy findings of “asymmetric hypertrophy of the heart in young adults”. Advances in human genome analysis and cardiac imaging techniques have enriched our understanding of the complex architecture of the malady and shaped the way we perceive the illness continuum. Presently, HCM is acknowledged as “a disease of the sarcomere”, where the relationship between genotype and phenotype is not straightforward but subject to various genetic and nongenetic influences. The focus of this review is to discuss key aspects related to molecular mechanisms and imaging aspects that have prompted genotype–phenotype correlations, which will hopefully empower patient-tailored health interventions.

Several studies showed that right ventricular (RV) dysfunction is a powerful predictor in heart failure (HF). Advanced echocardiographic techniques such as speckle-tracking imaging and three-dimensional (3D) echocardiography proved to be accurate tools for RV assessment, but their clinical significance remains to be clarified. The aim of this study was to evaluate the role of two-dimensional (2D) RV strain and 3D ejection fraction (RVEF) in predicting adverse outcome in patients with non-ischemic dilated cardiomyopathy (DCM). We prospectively screened 81 patients with DCM and sinus rhythm, 50 of whom were enrolled and underwent comprehensive echocardiography, including RV strain and 3D RV volumetric assessment. Patients were followed for a composite endpoint of cardiac death, nonfatal cardiac arrest and acute worsening of HF requiring hospitalization. After a median follow-up of 16 months, 29 patients reached the primary endpoint. Patients with events had more impaired RV global longitudinal strain (− 10.5 ± 4.5% vs. − 14.3 ± 5.2%, p = 0.009), RV free wall longitudinal strain (− 12.9 ± 8.7% vs. − 17.5 ± 7.1%, p = 0.046) and 3D RVEF (38 ± 8% vs. 47 ± 9%, p = 0.001). By Cox proportional hazards multivariable analysis, RV global longitudinal strain and RVEF were independent predictors of outcome after adjustment for age and NYHA class. RVEF remained the only independent predictor of events after further correction for echocardiographic risk factors. By receiver-operating characteristic analysis, the optimal RVEF cut-off value for event prediction was 43.4% (area under the curve = 0.768, p = 0.001). Subjects with RVEF > 43.4% showed more favourable outcome compared to those with RVEF < 43.4% (log-rank test, p < 0.001). In conclusion, 3D RVEF is an independent predictor of major adverse cardiovascular events in patients with DCM.

During the last decade, studies have raised awareness of the crucial role that the right ventricle plays in various clinical settings, including diseases primarily linked to the left ventricle. The assessment of right ventricular performance with conventional echocardiography is challenging. Novel echocardiographic techniques improve the functional assessment of the right ventricle and they show good correlation with the gold standard represented by cardiac magnetic resonance. This review summarizes the traditional and innovative echocardiographic techniques used in the functional assessment of the right ventricle, focusing on the role of right ventricular dysfunction in heart failure with reduced ejection fraction and providing a perspective on recent evidence from literature.

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Background: Right ventricular (RV) pulmonary artery coupling (RVPAC) is a predictor of outcome in left-sided heart failure (HF). Several echocardiographic estimates for RVPAC have been proposed. Aims:This study aimed to compare multiple non-invasive methods to calculate RVPAC and to assess its prognostic role in patients with dilated cardiomyopathy (DCM). Methods:We prospectively enrolled 60 stable patients with DCM. RVPAC was estimated using five methods: as the tricuspid annular plane excursion/pulmonary artery systolic pressure (PASP) ratio; as the RV global longitudinal strain/PASP ratio; as the RV free wall strain (RVFW-LS)/PASP ratio; as the three-dimensional (3D) RV ejection fraction (RVEF)/PASP ratio; and as the 3D RV stroke volume (SV)/end-systolic volume (ESV) ratio. Patients were followed for a mean period of 18 (9) months for the endpoint of HF rehospitalizations.Results: Twenty-nine patients (48%) reached the endpoint. All RVPAC estimates were more impaired in those patients reaching the endpoint (P <0.001 for all) and all predicted rehospitalizations in unadjusted analysis. RVFW-LS/PASP and RVEF/PASP remained independent predictors of events, after adjustment for clinical and echocardiographic confounders. Using cut-offs obtained from receiver operating characteristic (ROC) analysis, we found that patients with RVFW-LS/PASP >-0.40 and patients with RVEF/PASP <1.30 had a higher risk of HF rehospitalization (log-rank P = 0.001 and P = 0.002, respectively). Conclusion:RVFW-LS/PASP and RVEF/PASP as non-invasive estimates of RVPAC are independent predictors of HF rehospitalization in patients with DCM.