Echocardiographic Strain Abnormalities Precede Left Ventricular Hypertrophy Development in Hypertrophic Cardiomyopathy Mutation Carriers.

Hypertrophic cardiomyopathy (HCM) is a genetic disease characterized by unexplained left ventricular hypertrophy (LVH), diastolic dysfunction, and increased sudden-death risk. Early detection of the phenotypic expression of the disease in genetic carriers without LVH (Gen+/Phen-) is crucial for emerging therapies. This clinical study aims to identify echocardiographic predictors of phenotypic development in Gen+/Phen-. Sixteen Gen+/Phen- (one subject with troponin T, six with myosin heavy chain-7, and nine with myosin-binding protein C3 mutations), represented the study population. At first and last visit we performed comprehensive 2D speckle-tracking strain echocardiography. During a follow-up of 8 ± 5 years, five carriers developed LVH (LVH+). At baseline, these patients were older than those who did not develop LVH (LVH-) (30 ± 8 vs. 15 ± 8 years, p = 0.005). LVH+ had reduced peak global strain rate during the isovolumic relaxation period (SRIVR) (0.28 ± 0.05 vs. 0.40 ± 0.11 1/s, p = 0.048) and lower global longitudinal strain (GLS) (-19.8 ± 0.4 vs. -22.3 ± 1.1%; p < 0.0001) than LVH- at baseline. SRIVR and GLS were not correlated with age (overall, p > 0.08). This is the first HCM study investigating subjects before they manifest clinically significant or relevant disease burden or symptomatology, comparing at baseline HCM Gen+/Phen- subjects who will develop LVH with those who will not. Furthermore, we identified highly sensitive, easily obtainable, age- and load-independent echocardiographic predictors of phenotype development in HCM gene carriers who may undergo early preventive treatment.

Myocardial hypoxic stress mediates functional cardiac extracellular vesicle release.

AIMS: Increased shedding of extracellular vesicles (EVs)-small, lipid bilayer-delimited particles with a role in paracrine signalling-has been associated with human pathologies, e.g. atherosclerosis, but whether this is true for cardiac diseases is unknown. METHODS AND RESULTS: Here, we used the surface antigen CD172a as a specific marker of cardiomyocyte (CM)-derived EVs; the CM origin of CD172a+ EVs was supported by their content of cardiac-specific proteins and heart-enriched microRNAs. We found that patients with aortic stenosis, ischaemic heart disease, or cardiomyopathy had higher circulating CD172a+ cardiac EV counts than did healthy subjects. Cellular stress was a major determinant of EV release from CMs, with hypoxia increasing shedding in in vitro and in vivo experiments. At the functional level, EVs isolated from the supernatant of CMs derived from human-induced pluripotent stem cells and cultured in a hypoxic atmosphere elicited a positive inotropic response in unstressed CMs, an effect we found to be dependent on an increase in the number of EVs expressing ceramide on their surface. Of potential clinical relevance, aortic stenosis patients with the highest counts of circulating cardiac CD172a+ EVs had a more favourable prognosis for transcatheter aortic valve replacement than those with lower counts. CONCLUSION: We identified circulating CD172a+ EVs as cardiac derived, showing their release and function and providing evidence for their prognostic potential in aortic stenosis patients.

Aortic thrombosis: the forgotten source of ischemic stroke. A case report and systematic review of the literature.

Ischemic stroke represents one of the most important health problems in industrialized countries, both for epidemiological and socio-economic impact. The presence of thrombi in the aorta is rare and its treatment has not been uniquely defined. Here we report the case of an 82-years-old man with aortic thrombosis and acute ischemic stroke.

Prognostic impact of increased pulse pressure/stroke index in a registry of hypertensive patients: the Campania Salute Network.

Objectives: Increased arterial stiffness is associated with advanced arteriosclerosis, abnormal left ventricular (LV) geometry and function. Whether increased arterial stiffness is associated with incident cardiovascular (CV) event (MACE), independent of other markers of target organ damage needs to be clarified. Methods: We selected hypertensive participants of the Campania Salute Network free of prevalent CV disease, with available echocardiogram and carotid ultrasound, ejection fraction ≥50%, and ≤ stage III Chronic Kidney Disease (n = 6907). Median follow-up was 63 months. End-point was incident MACE (fatal and non-fatal stroke and myocardial infarction, sudden cardiac death, carotid stenting and heart failure requiring hospitalization). Arterial stiffness was assessed from ratio of brachial pulse pressure/stroke index (i.e. normalized for body height in meter to 2.04 power) (PP/SVi). High PP/SVi (n = 980) was defined as >95th sex-specific percentile of the normal distribution from a reference normal population (>2.63/>2.82 mmHg/ml in men and women, respectively). Results: Patients with high PP/SVi were more likely to be women, older, diabetic, with higher systolic blood pressure (BP) and heart rate, more LV concentric geometry, left atrial dilatation and more carotid plaque (all p < .01). At given increase in SVi, patients with high PP/SVi exhibited two-fold increase in PP compared to normal PP/SVi. In Cox regression, patients with high PP/SVi had 63% increased hazard of MACE [95% CI (1.02-2.59) p = .04], independently of significant effect of older age, male sex, carotid plaque and less frequent anti-RAS therapy. Conclusions: In treated hypertensive patients, high PP/SVi predicted increased rate of MACE, independent of common confounders.

The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies.

Aims: The Cardiomyopathy Registry of the EURObservational Research Programme is a prospective, observational, and multinational registry of consecutive patients with four cardiomyopathy subtypes: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM). We report the baseline characteristics and management of adults enrolled in the registry. Methods and results: A total of 3208 patients were enrolled by 69 centres in 18 countries [HCM (n = 1739); DCM (n = 1260); ARVC (n = 143); and RCM (n = 66)]. Differences between cardiomyopathy subtypes (P < 0.001) were observed for age at diagnosis, history of familial disease, history of sustained ventricular arrhythmia, use of magnetic resonance imaging or genetic testing, and implantation of defibrillators. When compared with probands, relatives had a lower age at diagnosis (P < 0.001), but a similar rate of symptoms and defibrillators. When compared with the Long-Term phase, patients of the Pilot phase (enrolled in more expert centres) had a more frequent rate of familial disease (P < 0.001), were more frequently diagnosed with a rare underlying disease (P < 0.001), and more frequently implanted with a defibrillator (P = 0.023). Comparing four geographical areas, patients from Southern Europe had a familial disease more frequently (P < 0.001), were more frequently diagnosed in the context of a family screening (P < 0.001), and more frequently diagnosed with a rare underlying disease (P < 0.001). Conclusion: By providing contemporary observational data on characteristics and management of patients with cardiomyopathies, the registry provides a platform for the evaluation of guideline implementation. Potential gaps with existing recommendations are discussed as well as some suggestions for improvement of health care provision in Europe.

Determinants of decline of renal function in treated hypertensive patients: the Campania Salute Network.

Background: Hypertension is a leading cause of chronic kidney disease (CKD) and a decrease in glomerular filtration rate (GFR) is associated with a higher prevalence of hypertension and an increased proportion of suboptimal blood pressure (BP) control. Methods: To investigate characteristics associated with GFR decline, we selected 4539 hypertensive patients from the Campania Salute Network (mean age 53 ± 11 years) with at least 3 years of follow-up (FU) and no more than Stage III CKD. GFR was calculated at baseline and at the last available visit using the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equation. GFR decline was defined as a ≥30% decrease from initial GFR for patients in Stage III CKD or by a composite ≥30% decrease from baseline and a final value of <60 for those < with Stage III or higher CKD. Results: At a mean FU of 7.5 years, 432 patients (10%) presented with GFR decline. Those patients were older, more likely to be diabetic, with lower GFR and ejection fraction, higher systolic and lower diastolic BP and higher left ventricular (LV) mass and relative wall thickness at baseline; during FU, patients with GFR decline exhibited higher systolic BP, took more drugs and developed more atrial fibrillation (all P < 0.02). The probability of GFR decline was independently associated with older age, prevalent diabetes, baseline lower GFR, higher systolic BP during FU, FU duration, increased LV mass and incident AF with no impact from antihypertensive and antiplatelet medications. Conclusions: During antihypertensive therapy, kidney function declines in patients with initially lower GFR, increased LV mass and suboptimal BP control during FU.

Prosthesis depth and conduction disturbances after last generation balloon-expandable transcatheter aortic valve implantation.

Aims: Preliminary data on Sapien 3 valve (S3-THV) use for transcatheter aortic valve implantation have shown an increased permanent pacemaker implantation (PPMI) rate with respect to Sapien XT valve. Aim of this study was to investigate the role of S3-THV position in the left ventricular outflow tract (LVOT) on electrocardiographic changes suggestive of atrioventricular (ΔPR) and/or intraventricular (ΔQRS) conduction abnormalities and 30 days PPMI rate. Methods and results: Eighty-six consecutive patients treated with S3-THV were included in the study. All patients underwent clinical and electrocardiogram evaluation. Left ventricular outflow tract prosthesis depth was assessed by fluoroscopy and expressed quantitatively (mm) and as aorto-ventricular ratio (AVR). Eight patients (9.3%) needed PPMI at 30 days. A low AVR (≤60/40) predicted PPMI (OR = 6.09, 95% CI 1.19-31.01, P = 0.030) and resulted into higher PPMI rate, compared with higher AVR (30.0 vs. 6.6%, P = 0.017). For each millimetre increase in the LVOT prosthesis depth PPMI risk increased by 1.41 times (95% CI 1.06-1.87, P = 0.017). In patients with low AVR, ΔPR was higher than in those with higher AVR (33.4 ± 56.7 vs. 12.1 ± 19.4 ms, P = 0.021) and ΔPR was associated to LVOT prosthesis depth (ß = 0.286, P = 0.009). Furthermore, ΔPR was associated with risk of PPMI (OR = 1.03, 95% CI 1.01-1.06, P = 0.024). Conclusions: A low AVR is associated to higher ΔPR and PPMI rates. The correlation between LVOT prosthesis depth with ΔPR and higher PPMI rate suggests the need of a careful S3-THV implantation.

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the α-Gal A. To date, more than 900 mutations in this gene have been described. In our laboratories, the study of genetic and enzymatic alterations related to FD was performed in about 17,000 subjects with a symptomatology referable to this disorder. The accumulation of globotriaosylsphingosine (LysoGb3) was determined in blood of positives. Exonic mutations in the GLA gene were detected in 471 patients (207 Probands and 264 relatives): 71.6% of mutations were associated with the classic phenotype, 19.8% were associated with the late-onset phenotype, and 8.6% of genetic variants were of unknown significance (GVUS). The accumulation of LysoGb3 was found in all male patients with a mutation responsible for classic or late-onset FD. LysoGb3 levels were consistent with the type of mutations and the symptomatology of patients. α-Gal A activity in these patients is absent or dramatically reduced. In recent years, confusion about the pathogenicity of some mutations led to an association between non-causative mutations and FD. Our study shows that the identification of FD patients is possible by associating clinical history, GLA gene analysis, α-Gal A assay, and blood accumulation of LysoGB3. In our experience, LysoGB3 can be considered a reliable marker, which is very useful to confirm the diagnosis of Fabry disease.

Aortic and Mitral Calcification Is Marker of Significant Carotid and Limb Atherosclerosis in Patients with First Acute Coronary Syndrome.

PURPOSE: Atherosclerosis is a systemic disease and coronary artery disease is frequently associated with peripheral artery disease. As aortic and mitral valvular calcification (VC) share some etiopathogenetic mechanisms with atherosclerosis, we analyzed the risk profile and the echocardiographic characteristics of patients admitted for first acute coronary syndrome (ACS) to investigate whether the presence of VC could be a marker of asymptomatic hemodynamically significant peripheral atherosclerosis. METHODS: A total of 151 patients admitted for ACS without previous history of cardiovascular disease were consecutively enrolled. The presence of VC was identified by echocardiography; a carotid stenosis ≥50% by ultrasound identified carotid artery disease (CarAD); an ankle-brachial index ≤0.9 or ≥1.4 identified lower extremity artery disease (LEAD). Significant peripheral atherosclerosis was defined by the presence of CarAD and/or LEAD. RESULTS: Peripheral atherosclerosis was diagnosed in 82 (54.3%) patients; isolated CarAD in 24, isolated LEAD in 20, both diseases in 38 patients. VC was present in 103 (68.2%) patients. By multivariate analysis, age (OR = 1.059, 95% CI 1.007-1.113, P = 0.025), diabetes mellitus (OR = 5.068, 95% CI 1.480-17.351, P = 0.010), VC (OR = 7.422, 95% CI 2.421-22.880, P < 0.001), and multivessel CAD (OR = 3.317, 95% CI 1.281-8.586, P = 0.013) were the only independent predictors of having peripheral atherosclerosis. C-statistic for VC was not inferior to that obtained by age (0.728, 95% CI 0.649-0.797 vs. 0.800, 95% CI 0.727-0.861, P = 0.101) and to that obtained by the combination of multivessel CAD with diabetes (0.750; 95% CI 0.673-0.817, P = 0.635), and, furthermore, it was higher than that obtained by diabetes alone (0.620, 95% CI 0.538-0.698, P = 0.036). CONCLUSION: Ruling out the presence of significant peripheral atherosclerosis should be routinely considered in patients with ACS showing VC at echocardiography.

Long-term follow-up study on obstructive hypertrophic cardiomyopathy patients treated with disopyramide: evidences of a notable trend in symptom control within a real-world clinical setting.

Background: In obstructive hypertrophic cardiomyopathy (HOCM), disopyramide is used in patients who remain symptomatic despite ß-blockers or verapamil. However, effectiveness of disopyramide therapy has not been clearly established due to inconsistent definition of responders and the insufficient length of follow-ups reported in literature. To address these shortcomings, we have conducted a retrospective analysis from detailed databases with long follow-up, from two HCM Referral Centers. Methods: 62 symptomatic HOCM patients (43% women, age 52 ± 14 years) with left ventricular (LV) outflow tract gradient (LVOTG) ≥ 50 mmHg at rest or during provocation, were recruited from two Italian Centers. Disopyramide was added as second-line therapy in the patients in whom symptoms persisted despite classic pharmacologic treatment. Patients in NYHA class > II at baseline who reached NYHA class II or I, and patients in NYHA class II at baseline who reached NYHA class I or symptoms stabilization were defined as responders. Results: At follow-up, (mean 4.4 years, IQR 1.1-6.6 years), 47 patients (76%) were responders, whereas 15 (24%) were no-responders. Responders showed larger LV diastolic volume index (LVEDVi) at baseline as compared to no-responders (61 ± 14 vs. 49 ± 16 ml, respectively, p = 0.018), and, at follow-up, reached lower LVOTG than no-responders (43 ± 32 vs. 66 ± 28 mmHg, respectively, p = 0.013), with a LVOTG <50 mmHg more represented in responders than in no-responders (75% vs. 25%, respectively; p = 0.004). No side effects requiring discontinuation of the therapy were recorded. Conclusion: HOCM patients treated with disopyramide as second-line therapy in a quite long-follow-up showed a significant improvement of symptoms, which avoided SRT in up to 70% of them. Moreover, our data suggest that a larger LVEDVi at baseline identify the subgroup of patients who benefit the most from the therapy in terms of symptoms and reduction of LVOTG below 50 mmHg during treatment. We will discuss specific situations where disopyramide may be preferred over myosin inhibition to ensure that effective therapeutic options are fully considered and not prematurely dismissed.

Application of the 2016 ASE-EACVI Criteria for the Assessment of Diastolic Function in Arterial Hypertension.

INTRODUCTION: No data are available on the diagnostic algorithms recommended by guidelines for the assessment of diastolic dysfunction (DD) in patients with arterial hypertension. AIM: To fill this gap, we evaluated diastolic function in hypertensive patients with and without LVH matched with healthy subjects by applying 2016 American Society of Echocardiography-European Association of Cardiovascular Imaging Guidelines for the evaluation of LV diastolic function. METHODS: 717 healthy and hypertensives with normal LV ejection fraction and with and without LV hypertrophy (LVH), matched 1:1:1 from two prospective registries, represented the study population. RESULTS: By applying algorithm A, indeterminate pattern was found in 0.4% of healthy, in 6.3% of hypertensives without LVH, and in 21% with LVH (overall p < 0.05 vs. healthy). DD was absent in healthy, however present in 2 and 8% of hypertensives without and with LVH (p = 0.06 and p = 0.001 vs. healthy, respectively). By applying algorithm B, no cases of indeterminate pattern were found. DD was observed in 2.9% of healthy, 7 and 10.5% of hypertensives without and with LVH (p < 0.05 vs. healthy). CONCLUSIONS: The use of algorithm A should be limited only to truly normal subjects, whereas algorithm B should be applied to all patients with hypertension, even without comorbidities and irrespective of LVH.

Artificial intelligence-driven electrocardiography: Innovations in hypertrophic cardiomyopathy management.

Hypertrophic Cardiomyopathy (HCM) presents a complex diagnostic and prognostic challenge due to its heterogeneous phenotype and clinical course. Artificial Intelligence (AI) and Machine Learning (ML) techniques hold promise in transforming the role of Electrocardiography (ECG) in HCM diagnosis, prognosis, and management. AI, including Deep Learning (DL), enables computers to learn patterns from data, allowing for the development of models capable of analyzing ECG signals. DL models, such as convolutional neural networks, have shown promise in accurately identifying HCM-related abnormalities in ECGs, surpassing traditional diagnostic methods. In diagnosing HCM, ML models have demonstrated high accuracy in distinguishing between HCM and other cardiac conditions, even in cases with normal ECG findings. Additionally, AI models have enhanced risk assessment by predicting arrhythmic events leading to sudden cardiac death and identifying patients at risk for atrial fibrillation and heart failure. These models incorporate clinical and imaging data, offering a comprehensive evaluation of patient risk profiles. Challenges remain, including the need for larger and more diverse datasets to improve model generalizability and address imbalances inherent in rare event prediction. Nevertheless, AI-driven approaches have the potential to revolutionize HCM management by providing timely and accurate diagnoses, prognoses, and personalized treatment strategies based on individual patient risk profiles. This review explores the current landscape of AI applications in ECG analysis for HCM, focusing on advancements in AI methodologies and their specific implementation in HCM care.

Sex-Related Differences in Left Ventricular Geometry Patterns in Patients With Arterial Hypertension.

Background: Sex-specific differences in left ventricular (LV) geometry might help in developing tailored strategies for hypertension management. Objectives: The purpose of the study was to evaluate sex-related differences in LV geometry at baseline and over time in hypertension. Methods: From a prospective registry, we included hypertensives without prevalent cardiovascular disease, incident myocardial infarction, chronic kidney disease > stage III, and with normal LV ejection fraction. LV mass index >115 g/m2 in males and >95 g/m2 in females, identified LV hypertrophy (LVH). Relative wall thickness ≥0.43 defined LV concentric geometry. LVH in presence of concentric geometry was defined as concentric LVH, whereas relative wall thickness <0.43 was categorized as eccentric. Concentric geometry, or LVH, identified LV remodeling. Results: Six thousand four hundred twenty-seven patients (age 53 ± 11 years, 43% females) were included. At baseline, females showed lower prevalence of normal geometric pattern and higher prevalence of LVH than males (50% vs 72%, P < 0.001; 47% vs 23%, P < 0.001, respectively), with a higher prevalence of eccentric LVH (40% vs 18%, P < 0.001). Female sex was independently associated with LV remodeling (OR: 2.36; 95% CI: 2.12-2.62; P < 0.001). At long-term follow-up (mean 6.1 years, IQR: 2.8-8.6 years), prevalence of LV remodeling increased in both sexes, although a normal LV geometry remained less frequent in females than males (43% vs 67%, P < 0.001), with differences persisting in eccentric (41% vs 21%, P < 0.001) and concentric LVH (11% vs 5%, P < 0.001). Conclusions: We found sex-related differences in LV geometry among hypertensives. Females have higher risk of LV remodeling at baseline compared with males, with differences persisting at long-term follow-up.

Prediction of incident atrial fibrillation in hypertrophic cardiomyopathy.

BACKGROUND AND AIM: Atrial fibrillation (AF) is the most common sustained arrhythmia in hypertrophic cardiomyopathy (HCM) with significant effects on outcome. We aim to compare the left atrial (LA) diameter measurement with HCM-AF Score in predicting atrial fibrillation (AF) development in HCM. METHODS: From the regional cohort of the Campania Region, Italy, 519 HCM patients (38% women, age45 ± 17 years) without history of AF, were enrolled in the study. The primary clinical endpoint was the development of AF, defined as at least 1 episode documented by ECG. RESULTS: During the follow-up (mean 8 ± 6, IQ range 2.5-11.2 years), 99 patients (19%) developed AF. Patients who developed AF were more symptomatic, had higher prevalence of ICD implantation, had larger LA diameter, greater left ventricular (LV) maximal wall thickness and LV outflow tract obstruction (p < 0.01). Both LA diameter and HCM-AF score were higher in patients who developed AF versus those who did not (LA diameter 49 ± 7 versus 43 ± 6 mm; HCM-AF score 22 ± 4 versus 19 ± 4; p < 0.0001); however, ROC curve analysis demonstrated that LA diameter had a significant greater area under the curve than HCM-AF Score (p < 0.0001). At 5 years follow-up, a LA diameter > 46 mm, showed a similar accuracy in predicting AF development of HCM-AF score ≥ 22, which identifies patients at high risk to develop AF. CONCLUSION: Our analysis shows that LA diameter, a worldwide and simple echocardiographic measure, is capable alone to predict AF development in HCM patients.

Carotid plaque offsets sex-related differences in cardiovascular risk of young hypertensive patients.

BACKGROUND: Women have a lower risk for cardiovascular (CV) disease compared to men. Whether this difference is influenced by the presence of hypertension-mediated organ damage is unknown. OBJECTIVE: To assess whether the presence of carotid plaque (CP) impacts the sex difference in risk for CV events in treated hypertensive patients. METHODS: From the Campania Salute Network Registry 2419 women and men <51 years of age with treated hypertension and free from prevalent CV disease were included. The presence of CP was identified by Doppler ultrasound (intima-media thickness≥1.5 mm). The primary outcome was a composite of fatal and non-fatal stroke or myocardial infarction, sudden death, TIA, myocardial revascularization, de novo angina, and atrial fibrillation. RESULTS: Among patients without CP at baseline (n = 1807), women were older, with higher systolic blood pressure, serum cholesterol level and prevalence of LVH but lower serum triglycerides and eGFR, compared to men (all p < 0.001). Among patients with CP (n = 612), women were older, used higher number of antihypertensive drugs, had higher serum cholesterol level and prevalence of left ventricular hypertrophy (LVH), but had lower serum triglycerides and eGFR compared to men (all p < 0.001). During follow-up, women without CP had a lower risk for CV disease than men (hazard ratio, HR, 0.51, 95 % confidence intervals, CI, 0.27-0.99, p = 0.04) after accounting for cardiovascular risk factors, LVH, and antihypertensive treatment. In contrast, among patients with CP, women had similar risk for CV disease compared with men (HR 1.3, 95 % CI, 0.59-2.9, p = 0.48). CONCLUSIONS: Our findings suggest that the presence of CP in young patients with treated hypertension offsets the CV disease protection in women. TRIAL REGISTRATION: NCT02211365.

Mechano-energetic efficiency in patients with hypertrophic cardiomyopathy with and without sarcomeric mutations.

Hypertrophic cardiomyopathy (HCM) is mainly caused by sarcomeric mutations which may affect myocardial mechano-energetic efficiency (MEE). We investigated the effects of sarcomeric mutations on MEE. A non-invasive pressure/volume (P/V) analysis was performed. We included 49 genetically screened HCM patients. MEEi was calculated as the ratio between stroke volume and heart rate normalized by LV mass. Fifty-seven percent (57%) HCM patients carried a sarcomeric mutation. Patients with and without sarcomeric mutations had similar LV ejection fraction, heart rate, LV mass, and LV outflow gradient. Younger age at diagnosis, family history of HCM, and lower MEEi were associated with presence of sarcomeric mutation (p = 0.017; p = 0.001 and p = 0.0001, respectively). Lower MEEi in HCM with sarcomeric mutation is not related to significant differences on filling pressure as shown on P/V analysis. Sarcomeric mutations determine a reduction of the LV pump performance as estimated by MEEi in HCM. Lower MEEi may predict a positive genetic analysis.

Beyond Aortic Stenosis: Addressing the Challenges of Multivalvular Disease Assessment.

Aortic stenosis (AS) can often coexist with other valvular diseases or be combined with aortic regurgitation (AR), leading to unique pathophysiological conditions. The combination of affected valves can vary widely, resulting in a lack of standardized diagnostic or therapeutic approaches. Echocardiography is crucial in assessing patients with valvular heart disease (VHD), but careful consideration of the hemodynamic interactions between combined valvular defects is necessary. This is important as it may affect the reliability of commonly used echocardiographic parameters, making the diagnosis challenging. Therefore, a multimodality imaging approach, including computed tomography or cardiac magnetic resonance, is often not just beneficial but crucial. It represents the future of diagnostics in this intricate field due to its unprecedented capacity to quantify and comprehend valvular pathology. The absence of definitive data and guidelines for the therapeutic management of AS in the context of multiple valve lesions makes this condition particularly challenging. As a result, an individualized, case-by-case approach is necessary, guided primarily by the recommendations for the predominant valve lesion. This review aims to summarize the pathophysiology of AS in the context of multiple and mixed valve disease, with a focus on the hemodynamic implications, diagnostic challenges, and therapeutic options.

Diagnosis and Clinical Implication of Left Ventricular Aneurysm in Hypertrophic Cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is a genetic disease with heterogeneous clinical presentation and prognosis. Within the broad phenotypic expression of HCM, there is a subgroup of patients with a left ventricular (LV) apical aneurysm, which has an estimated prevalence between 2% and 5%. LV apical aneurysm is characterized by an area of apical dyskinesis or akinesis, often associated with regional scarring. To date, the most accepted pathomechanism of this complication is, in absence of coronary artery disease, the high systolic intra-aneurysmal pressure, which, combined with impaired diastolic perfusion from lower stroke volume, results in supply-demand ischemia and myocardial injury. Apical aneurysm is increasingly recognized as a poor prognostic marker; however, the efficacy of prophylactic anticoagulation and/or intracardiac cardioverted defibrillator (ICD) in improving morbidity and mortality is not yet clearly demonstrated. This review aims to elucidate the mechanism, diagnosis and clinical implication of LV aneurysm in patients with HCM.

Pitfalls and Tips in the Assessment of Aortic Stenosis by Transthoracic Echocardiography.

Aortic stenosis (AS) is a valvular heart disease that significantly contributes to cardiovascular morbidity and mortality worldwide. The condition is characterized by calcification and thickening of the aortic valve leaflets, resulting in a narrowed orifice and increased pressure gradient across the valve. AS typically progresses from a subclinical phase known as aortic sclerosis, where valve calcification occurs without a transvalvular gradient, to a more advanced stage marked by a triad of symptoms: heart failure, syncope, and angina. Echocardiography plays a crucial role in the diagnosis and evaluation of AS, serving as the primary non-invasive imaging modality. However, to minimize misdiagnoses, it is crucial to adhere to a standardized protocol for acquiring echocardiographic images. This is because, despite continuous advances in echocardiographic technology, diagnostic errors still occur during the evaluation of AS, particularly in classifying its severity and hemodynamic characteristics. This review focuses on providing guidance for the imager during the echocardiographic assessment of AS. Firstly, the review will report on how the echo machine should be set to improve image quality and reduce noise and artifacts. Thereafter, the review will report specific emphasis on accurate measurements of left ventricular outflow tract diameter, aortic valve morphology and movement, as well as aortic and left ventricular outflow tract velocities. By considering these key factors, clinicians can ensure consistency and accuracy in the evaluation of AS using echocardiography.

Is There Still a Role for Invasive Assessment of Aortic Gradient?

Advances in technology and imaging have expanded the range of tools for diagnosing aortic stenosis (AS). The accurate assessment of aortic valve area and mean pressure gradient is crucial to determine which patients are appropriate candidates for aortic valve replacement. Nowadays, these values can be obtained noninvasively or invasively, with similar results. Contrariwise, in the past, cardiac catheterization played a major role in the evaluation of AS severity. In this review, we will discuss the historical role of the invasive assessment of AS. Moreover, we will specifically focus on tips and tricks for properly performing cardiac catheterization in patients with AS. We will also elucidate the role of invasive methods in current clinical practice and their additional value to the information provided through non-invasive techniques.