Cardiomyopathies and valvular heart diseases are typically considered distinct diagnostic categories with dedicated guidelines for their management. However, the interplay between these conditions... Show moreCardiomyopathies and valvular heart diseases are typically considered distinct diagnostic categories with dedicated guidelines for their management. However, the interplay between these conditions is increasingly being recognized and they frequently coexist, as in the paradigmatic examples of dilated cardiomyopathy and hypertrophic cardiomyopathy, which are often complicated by the occurrence of mitral regurgitation. Moreover, cardiomyopathies and valvular heart diseases can have a shared aetiology because several genetic or acquired diseases can afect both the cardiac valves and the myocardium. In addition, the association between cardiomyopathies and valvular heart diseases has important prognostic and therapeutic implications. Therefore, a better understanding of their shared pathophysiological mechanisms, as well as of the prevalence and predisposing factors to their association, might lead to a diferent approach in the risk stratifcation and management of these diseases. In this Review, we discuss the diferent scenarios in which valvular heart diseases and cardiomyopathies coexist, highlighting the need for an improved classifcation and clustering of these diseases with potential repercussions in the clinical management and, particularly, personalized therapeutic approaches. Show less
IntroductionLeft ventricular (LV) hypertrophy is the main feature of cardiac involvement in Anderson-Fabry disease (FD), but the right ventricle (RV) is also frequently affected. Previous studies... Show moreIntroductionLeft ventricular (LV) hypertrophy is the main feature of cardiac involvement in Anderson-Fabry disease (FD), but the right ventricle (RV) is also frequently affected. Previous studies failed to demonstrate an independent association between conventional parameters of RV performance and outcomes in FD. Nevertheless, if RV free wall strain (RV-FWS), assessed by 2D speckle tracking analysis, may provide a better prognostication is currently unknown.MethodsWe retrospectively evaluated the association between RV-FWS and the occurrence of cardiovascular events in a cohort of 56 patients with FD. The study endpoint comprises cardiovascular mortality, severe heart failure symptoms, new-onset atrial fibrillation and major arrhythmias requiring device implantation.ResultsReduced RV-FWS, defined by values lower than 23%, was found in 25 (45%) patients. During a median follow-up of 47 months, 16 (29%) patients met the study endpoint. A ROC-curve analysis confirmed the threshold of reduced RV-FWS (<23%) as the best cut-off for predicting cardiovascular events, but with a lower power compared to left-sided parameters. On univariable Cox regression analysis, RV-FWS, expressed as continuous variable, was significantly associated with the study endpoint (HR: 0.795, 95% CI: 0.710–0.889, p < 0.001). However, RV-FWS did not retain a significant association with outcomes, after adjustment for LV global longitudinal strain or indexed left atrial volume (p = 0.340 and p = 0.289 respectively).ConclusionsRV-FWS was not independently associated with the occurrence of cardiovascular events in FD, confirming previous observations that prognosis is mainly driven by the severity of LV cardiomyopathy. Show less
Meucci, M.C.; Lillo, R.; Lombardo, A.; Lanza, G.A.; Bootsma, M.; Butcher, S.C.; ... ; Graziani, F. 2022
Aims:To perform a comparative analysis of right ventricle (RV) myocardial mechanics, assessed by 2D speckle-tracking echocardiography (2D-STE), between patients with Fabry disease and patients with... Show moreAims:To perform a comparative analysis of right ventricle (RV) myocardial mechanics, assessed by 2D speckle-tracking echocardiography (2D-STE), between patients with Fabry disease and patients with sarcomeric disease.Methods and results: Patients with Fabry cardiomyopathy (FC) (n = 28) were compared with patients with sarcomeric hypertrophic cardiomyopathy (HCM), matched for degree of left ventricle hypertrophy (LVH) and demographic characteristics (n = 112). In addition, patients with Fabry disease and no LVH [phenotype-negative carriers of pathogenic alpha-galactosidase gene mutations (GLA LVH-)] (n = 28) were compared with age and sex-matched carriers of sarcomeric gene mutations without LVH [Phenotype-negative carriers of pathogenic sarcomeric gene mutations (Sarc LVH-)] (n = 56). Standard echocardiography and 2D-STE were performed in all participants. Despite a subtle impairment of RV global longitudinal strain (RV-GLS) was common in both groups, patients with FC showed a more prominent reduction of RV free wall longitudinal strain (RV-FWS) and lower values of difference between RV-FWS and RV-GLS (Delta RV strain), in comparison to individuals with HCM (P <0.001 and P = 0.002, respectively). RV-FWS and Delta RV strain demonstrated an independent and additive value in discriminating FC from HCM, over the presence of symmetric LVH, systolic anterior motion of the mitral valve and RV hypertrophy. Similar results were found in GLA LVH- patients: they had worse RV-FWS and lower values of Delta RV strain as compared to Sarc LVH- patients (both P <0.001).Conclusion: Patients with FC show a specific pattern of RV myocardial mechanics, characterized by a larger impairment of RV-FWS and lower Delta RV strain in comparison to patients with HCM, which may be helpful in the differential diagnosis between these two diseases.[GRAPHICS]. Show less
