Genotype-Phenotype Insights of Inherited Cardiomyopathies-A Review.

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.

Echocardiographic Myocardial Work: A Novel Method to Assess Left Ventricular Function in Patients with Coronary Artery Disease and Diabetes Mellitus.

Myocardial ischemia caused by coronary artery disease (CAD) and the presence of metabolic abnormalities and microvascular impairments detected in patients with diabetes mellitus (DM) are a common cause of left ventricular (LV) dysfunction. Transthoracic echocardiography is the most-used, non-invasive imaging method for the assessment of myocardial contractility. The accurate evaluation of LV function is crucial for identifying patients who are at high risk or may have worse outcomes. Myocardial work (MW) is emerging as an alternative tool for the evaluation of LV systolic function, providing additional information on cardiac performance when compared to conventional parameters such as left ventricular ejection fraction (LVEF) and global longitudinal strain (GLS) because it incorporates deformation and load into its analysis. The potential of MW in various conditions is promising and it has gained increased attention. However, larger studies are necessary to further investigate its role and application before giving an answer to the question of whether it can have widespread implementation into clinical practice. The aim of this review is to summarize the actual knowledge of MW for the analysis of LV dysfunction caused by myocardial ischemia and hyperglycemia.

Casting Light on Early Heart Failure: Unveiling the Prognostic Potential of the E/(e' × s') Index.

It has been shown that patients with NYHA class I and II have a high morbidity and mortality burden. We investigated the value of a new tissue Doppler index, E/(e' × s'), to predict cardiac events in the long-term follow-up of patients at an early stage of heart failure (HF). Sequential echocardiography was conducted on a consecutive cohort of 212 hospitalized HF patients, pre-discharged and with three-month follow-up. The primary end point consisted of cardiac death or readmission due to HF worsening. During follow-up, cardiac events occurred in 99 patients (46.7%). The first cardiac event was represented by cardiac death in 8 patients (3.8%) and readmission for HF in 91 patients (42.9%). A Kaplan-Meier analysis did not show a significantly different event-free survival rate between patients with NYHA class I and II. The composite end point was significantly higher in patients with an E/(e' × s') >1.6. The E/(e' × s') at discharge was the best independent predictor of cardiac events. Those exhibiting an E/(e' × s') > 1.6 at discharge, with a subsequent deterioration after three months, displayed the poorest prognosis concerning cardiac events, HF-related rehospitalization, and cardiac mortality (all p < 0.05). In early-stage HF patients, an E/(e' × s') > 1.6 emerged as a robust predictor of clinical outcomes, especially when coupled with a deterioration in condition.

Subtle Changes in Myocardial Work Indices Assessed by 2D-Speckle Tracking Echocardiography Are Linked with Pathological LV Remodeling and MACEs Following an Acute Myocardial Infarction Treated by Primary Percutaneous Coronary Intervention.

The goal of this study was to assess whether subtle changes in myocardial work indices may predict left ventricular (LV) remodeling and major cardiac events (MACEs) in patients with a first ST-elevation acute myocardial infarction (STEMI) and preserved LVEF after successful myocardial revascularization with PCI. Methods. Consecutive STEMI patients in sinus rhythm and with an LV ejection fraction ≥ 50% following a successful PCI were recruited. Conventional and two-dimensional speckle tracking echocardiography (2D-STE) was conducted within 36 h of the PCI and 3 months later. Patients having an increase of more than 20% in LV diastolic volume were included in the LV remodeling group. MACEs were noted throughout a four-year period of follow-up. Results: The study comprised 246 STEMI patients with a mean age of 66; 72% of whom were men. In 24% (58) of the patients, LV remodeling developed. These patients were older, more frequently hypertensive, and had a smoking history. They also exhibited significantly lower baseline and 3-month values for the myocardial global index (GWI), global constructive work (GCW), and global myocardial efficiency (GWE). The cut-off values of 1670 mmHg% for GWI and 83% for GWE were predictive of LV remodeling (p < 0.0001). During the four-year follow-up period, 19% of STEMI patients experienced a MACE, involving 15% from non-LV remodelers and 34% from LV remodelers (p = 0.01). The cut-off values for baseline GWI of 1680 mmHg% and baseline GWE of 84% had the best accuracy in predicting MACEs. In conclusion, non-invasive myocardial work indices offered a reproducible and accurate method to predict post-MI LV remodeling and MACEs.

Reduced Left Ventricular Twist Early after Acute ST-Segment Elevation Myocardial Infarction as a Predictor of Left Ventricular Adverse Remodelling.

BACKGROUND: The left ventricular (LV) remodelling process represents the main cause of heart failure after a ST-segment elevation myocardial infarction (STEMI). Speckle-tracking echocardiography (STE) can detect early deformation impairment, while also predicting LV remodelling during follow-up. The aim of this study was to investigate the STE parameters in predicting cardiac remodelling following a percutaneous coronary intervention (PCI) in STEMI patients. METHODS: The study population consisted of 60 patients with acute STEMI and no history of prior myocardial infarction treated with PCI. The patients were assessed both by conventional transthoracic and ST echocardiography in the first 12 h after admission and 6 months after the acute phase. Adverse remodelling was defined as an increase in LVEDV and/or LVESV by 15%. RESULTS: Adverse remodelling occurred in 26 patients (43.33%). By multivariate regression equation, the risk of adverse remodelling increases with age (by 1.1-fold), triglyceride level (by 1.009-fold), and midmyocardial radial strain (mid-RS) (1.06-fold). Increased initial twist decreases the chances of adverse remodelling (0.847-fold). The LV twist presented the largest area under the receiver operating characteristic (ROC) curve to predict adverse remodelling (AUROC = 0.648; 95% CI [0.506;0.789], p = 0.04). A twist value higher than 11° has a 76.9% specificity and a 72.7% positive predictive value for reverse remodelling at 6 months.

Considering Both GLS and MD for a Prognostic Value in Non-ST-Segment Elevated Acute Coronary Artery Syndrome.

Global longitudinal strain (GLS) and mechanical dispersion (MD), as determined by 2D speckle tracking echocardiography, have been demonstrated to be reliable indicators of prognosis in a variety of cardiovascular illnesses. There are not many papers that discuss the prognostic significance of GLS and MD in a population with non-ST-segment elevated acute coronary syndrome (NSTE-ACS). Our study objective was to examine the predictive utility of the novel GLS/MD two-dimensional strain index in NSTE-ACS patients. Before discharge and four to six weeks later, echocardiography was performed on 310 consecutive hospitalized patients with NSTE-ACS and effective percutaneous coronary intervention (PCI). Cardiac mortality, malignant ventricular arrhythmia, or readmission owing to heart failure or reinfarction were the major end points. A total of 109 patients (35.16%) experienced cardiac incidents during the follow-up period (34.7 ± 8 months). The GLS/MD index at discharge was determined to be the greatest independent predictor of composite result by receiver operating characteristic analysis. The ideal cut-off value was -0.229. GLS/MD was determined to be the top independent predictor of cardiac events by multivariate Cox regression analysis. Patients with an initial GLS/MD > -0.229 that deteriorated after four to six weeks had the worst prognosis for a composite outcome, readmission, and cardiac death according to a Kaplan-Meier analysis (all p < 0.001). In conclusion, the GLS/MD ratio is a strong indicator of clinical fate in NSTE-ACS patients, especially if it is accompanied by deterioration.

The Incremental Prognostic Value of E/(e'×s') Ratio in Non-ST-Segment Elevated Acute Coronary Syndrome.

It has been shown that the E/(e'×s') index, which associates a marker of diastolic function (E/e', early transmitral/diastolic mitral annulus velocity ratio) and a parameter that explores LV systolic performance (s', systolic mitral annulus velocity), is a good predictor of outcome in acute anterior myocardial infarction. There are no studies that have investigated the prognostic value of E/(e'×s') in a non-ST-segment elevated acute coronary syndrome (NSTE-ACS) population. Echocardiography was performed in 307 consecutive hospitalized patients with NSTE-ACS and succesful percutaneous coronary intervention, before discharge and six weeks after. The primary endpoint consisted of cardiac death or readmission due to re-infarction or heart failure. During the follow-up period (25.4 ± 3 months), cardiac events occurred in 106 patients (34.5%). Receiver operating characteristic (ROC) analysis identified E/(e'×s') at discharge as the best independent predictor of composite outcome. The optimal cut-off value was 1.63 (74% sensitivity, 67% specificity). By multivariate Cox regression analysis, E/(e'×s') was the only independent predictor of cardiac events. Kaplan-Meier analysis identified that patients with an initial E/(e'×s') > 1.63 that worsened after six weeks presented the worst prognosis regarding composite outcome, readmission, and cardiac death (all p < 0.001). In conclusion, in NSTE-ACS, E/(e'×s') is a powerful predictor of clinical outcome, particularly if it is accompanied by worsening after 6-weeks.