Background: Cardiomyopathies (CMs) represent a heterogeneous group of primary myocardial diseases characterized by structural and functional abnormalities. They represent one of the leading causes of cardiac transplantations and cardiac death in young individuals. Clinically they vary from asymptomatic to symptomatic heart failure, with a high risk of sudden cardiac death due to malignant arrhythmias. With the increasing availability of genetic testing, a significant number of affected people are found to have an underlying genetic etiology. However, the awareness of the benefits of incorporating genetic test results into the care of these patients is relatively low. Aim: The focus of this review is to summarize the current basis of genetic CMs, including the most encountered genes associated with the main types of cardiomyopathies: hypertrophic, dilated, restrictive arrhythmogenic, and non-compaction. Materials and Methods: For this narrative review, we performed a search of multiple electronic databases, to select and evaluate relevant manuscripts. Results: Advances in genetic diagnosis led to better diagnosis precision and prognosis prediction, especially with regard to the risk of developing arrhythmias in certain subtypes of cardiomyopathies. Conclusions: Implementing the genomic information to benefit future patient care, better risk stratification and management, promises a better future for genotype-based treatment.

Monoamine oxidases (MAOs), mitochondrial enzymes that constantly produce hydrogen peroxide (H₂O₂) as a byproduct of their activity, have been recently acknowledged as contributors to oxidative stress in cardiometabolic pathologies. The present study aimed to assess whether MAOs are mediators of valvular oxidative stress and interact in vitro with angiotensin 2 (ANG2) to mimic the activation of the renin–angiotensin system. To this aim, valvular tissue samples were harvested from 30 patients diagnosed with severe primary mitral regurgitation and indication for surgical repair. Their reactive oxygen species (ROS) levels were assessed by means of a ferrous oxidation xylenol orange (FOX) assay, while MAO expression was assessed by immune fluorescence (protein) and qRT-PCR (mRNA). The experiments were performed using native valvular tissue acutely incubated or not with angiotensin 2 (ANG2), MAO inhibitors (MAOI) and the angiotensin receptor blocker, irbesartan (Irb). Correlations between oxidative stress and echocardiographic parameters were also analyzed. Ex vivo incubation with ANG2 increased MAO-A and -B expression and ROS generation. The level of valvular oxidative stress was negatively correlated with the left ventricular ejection fraction. MAOI and Irb reduced valvular H₂O_2. production. In conclusion, both MAO isoforms are expressed in pathological human mitral valves and contribute to local oxidative stress and ventricular functional impairment and can be modulated by the local renin–angiotensin system_.

Background Torsional and longitudinal deformations are essential components of left ventricular (LV) performance. A precise assessment of LV function must take into account both LV torsion (LVtor) and global longitudinal strain (LVε). We compared a new 2D-strain parameter, LVtor × LVε, with several other echocardiographic parameters, with respect to their strength of association with N-terminal pro-brain natriuretic peptide (NTproBNP) in patients with reduced LV ejection fraction (LVEF). Methods Echocardiography was performed simultaneously with NTproBNP determination in 78 consecutive patients with reduced LVEF (< 50%) in sinus rhythm. Early diastolic transmitral velocity/early mitral annular diastolic velocity ratio (E/E’) and systolic mitral annular velocity (S’) were measured. LVtor was defi ned as the ratio between LV twist (LVtw) and LV end-diastolic longitudinal length. LVtw (net diff erence between rotation angles at base and apex) was obtained from parasternal apical and basal short-axis planes. LV εwas obtained by averaging longitudinal peak systolic strain of all 17 LV-segments (from apical planes). Results Log-transformed NTproBNP correlated signifi cantly with LV ε(r = 0.57, P < 0.001), myocardial performance index (r = 0.56, P < 0.001), systolic pulmonary artery pressure (r = 0.47, P < 0.001), E/E’(r = 0.41, P< 0.001), LVtor (r = -0.37, P= 0.001), E-velocity deceleration time (r = -0.37, P= 0.003), S’ (r = -0.36, P= 0.002), LVtw (r = -0.34, P= 0.003), LVEF (r = -0.34, P= 0.003), E/A (A = late diastolic transmitral velocity, r = 0.30, P= 0.01) and E (r = 0.28, P= 0.03). LVtor × LV εhad the strongest correlation with log-NTproBNP (r = 0.70, P< 0.001). LVtor × LV εwas a better predictor of NTproBNP > 900 pg/ml (sensitivity = 82%, specifi city = 84%) than other investigated parameters (each P< 0.05). Conclusions In patients with reduced LVEF, LVtor × LV εis a promising parameter that deserves research to establish its clinical meaning and prognostic value.