Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement.

Hereditary transthyretin amyloidosis is a severe, adult-onset autosomal dominant inherited systemic disease predominantly affecting the peripheral and autonomic nervous system, heart, kidney, and the eyes. We present a case of a Caucasian 65-year-old man with cardiac amyloidosis and the homozygous mutation Val142Ile (classically, Val122Ile) in the transthyretin gene. We provide a genotype-phenotype correlation regarding the genetic status of both heterozygous and homozygous individuals and their clinical conditions at the time of genetic testing.

Aortic Valve Stenosis and Cancer: Problems of Management.

Aortic valve stenosis and malignancy frequently coexist and share the same risk factors as atherosclerotic disease. Data reporting the prognosis of patients with severe aortic stenosis and cancer are limited. Tailoring the correct and optimal care for cancer patients with severe aortic stenosis is complex. Cancer patients may be further disadvantaged by aortic stenosis if it interferes with their treatment by increasing the risk associated with oncologic surgery and compounding the risks associated with cardiotoxicity and heart failure (HF). Surgical valve replacement, transcatheter valve implantation, balloon valvuloplasty, and medical therapy are possible treatments for aortic valve stenosis, but when malignancy is present, the choice between these options must take into account the stage of cancer and associated treatment, expected outcome, and comorbidities. Physical examination and Doppler echocardiography are critical in the diagnosis and evaluation of aortic stenosis. The current review considers the available data on the association between aortic stenosis and cancer and the therapeutic options.

Use and Implications of Echocardiography in the Hemodynamic Assessment of Cardiogenic Shock.

Cardiogenic shock (CS) is a complex multisystem syndrome due to pump failure, associated with high mortality and morbidity. Its hemodynamic characterization is key to the diagnostic algorithm and management. Pulmonary artery catheterization is the gold standard for the left and right hemodynamic evaluation, but some concerns exist for invasivity and untoward mechanical and infective complications. Transthoracic echocardiography is a robust noninvasive diagnostic tool for hemodynamic multiparametric assessment that well applies to the management of CS. Its applications expand from etiology definition to the choice of therapeutic intervention and their monitoring. The present review aims at detailing the role of ultrasounds in CS emphasizing the clinical implications of combining cardiac and non-cardiac ultrasounds examinations that may correlate with prognosis.

Long-Term Effects of Sacubitril-Valsartan on Cardiac Remodeling: A Parallel Echocardiographic Study of Left and Right Heart Adaptive Response.

Sacubitril/Valsartan (S/V) carries potential anti-remodeling properties, however long-term effects and biventricular adaptive response are poorly described. 76 HFrEF patients who underwent progressive uptitration of S/V, completed the annual scheduled follow-up. After a median follow-up of 11 (8-13) months, left ventricular (LV) reverse remodeling (RR) is defined as (1) absolute increase in LV ejection fraction (EF) ≥ 10% or LVEF ≥ 50% at follow-up and (2) decrease in indexed LV end-diastolic diameter (LVEDDi) of at least 10% or indexed LVEDDi ≤ 33 mm/m2, occurred in 27.6%. Non-ischemic etiology, shorter duration of HF, and absence of a history of AF were independently associated with LVRR (p < 0.05). TAPSE and TAPSE/PASP, a non-invasive index of right ventricular (RV) coupling to the pulmonary circulation, significantly improved at follow-up (0.45 vs. 0.56, p = 0.02). 41% of patients with baseline RV dysfunction obtained favorable RV remodeling despite only a moderate correlation between RV and LV function was observed (r = 0.478, p = 0.002). Our data point to a potential long-term reverse global remodeling effect by S/V, especially in patients who start S/V at an early stage of the disease, and focus our attention on a possible direct effect of the drug in synergistic hemodynamics between RV and pulmonary circulation.

The Global Burden of Valvular Heart Disease: From Clinical Epidemiology to Management.

Valvular heart disease is a leading cause of cardiovascular morbidity and mortality and a major contributor of symptoms and functional disability. Knowledge of valvular heart disease epidemiology and a deep comprehension of the geographical and temporal trends are crucial for clinical advances and the formulation of effective health policy for primary and secondary prevention. This review mainly focuses on the epidemiology of primary (organic, related to the valve itself) valvular disease and its management, especially emphasizing the importance of heart valve centers in ensuring the best care of patients through a multidisciplinary team.

Arrhythmogenic Mitral Valve Prolapse and Sudden Cardiac Death: An Update and Current Perspectives.

Mitral valve prolapse (MVP) affects about 2% to 3% of the general population, mostly women, and is the most common cause of primary chronic mitral regurgitation (MR) in western countries. The natural history is heterogeneous and widely determined by the severity of MR. Although most patients remain asymptomatic with a near-normal life expectancy, approximately 5% to 10 % progress to severe MR. As largely recognized, left ventricular (LV) dysfunction due to chronic volume overload per se identifies a subgroup at risk of cardiac death. However, there is rising evidence of a link between MVP and life threating ventricular arrhythmias (VAs)/sudden cardiac death (SCD) in a small subset of middle-aged patients without significant MR, heart failure and remodeled hearts. The present review focuses on the underlying mechanism of electric instability and unexpected cardiac death in this subset of young patients, from the myocardial scarring of the LV infero-lateral wall due to mechanical stretch exerted by the prolapsing leaflets and mitral annular disjunction, to the inflammation's impact on fibrosis pathways along with a constitutional hyperadrenergic state. The heterogeneity of clinical course reveals a necessity of risk stratification, preferably through noninvasive multimodality imaging, that will help to identify and prevent adverse scenarios in young MVP patients.

Role of cardiac and lung ultrasound in the COVID-19 era.

INTRODUCTION: The primary diagnostic method of Coronavirus disease 2019 is reverse transcription polymerase chain reaction of the nucleic acid of severe acute respiratory syndrome coronavirus 2 in nasopharyngeal swabs. There is growing evidence regarding the 2019 coronavirus disease imaging results on chest X-rays and computed tomography but the accessibility to standard diagnostic methods may be limited during the pandemic. EVIDENCE ACQUISITION: Databases used for the search were MEDLINE (PubMed), Scopus Search, and Cochrane Library. The research took into consideration studies published in English until March 2022 and was conducted using the following research query: ((((sars cov [MeSH Terms])) OR (COVID-19)) OR (Sars-Cov2)) OR (Coronavirus)) AND (((((2d echocardiography [MeSH Terms]) OR (doppler ultrasound imaging [MeSH Terms]))) OR (echography [MeSH Terms])) OR (LUS)) OR ("LUNG ULTRASOUND")). EVIDENCE SYNTHESIS: Pulmonary and cardiac ultrasound are cost-effective, widely available, and provide information that can influence management. CONCLUSIONS: Point-of-care ultrasonography is a method that can provide relevant clinical and therapeutic information in patients with COVID-19 where other diagnostic methods may not be easily accessible.

Management of Dyslipidemia in Secondary Prevention of Cardiovascular Disease: The Gap between Theory and Practice.

Hypercholesterolemia is one of the most important modifiable risk factors for cardiovascular events (CV) representing the principal driving force in the development of atherosclerotic cardiovascular diseases (ASCVD) [...].

Effects of Sacubitril/Valsartan on biomarkers of fibrosis and inflammation in patients with heart failure with reduced ejection fraction.

AIMS: To evaluate the circulating levels of remodeling biomarkers procollagen type 1 C-terminal propeptide (PICP), human cartilage glycoprotein-39 (YKL-40), plasma renin activity (PRA), aldosterone (Aldo) as well as clinical and echocardiographic parameters in patients with heart failure with reduced ejection fraction (HFrEF), before and after treatment with Sacubitril/Valsartan (S/V). METHODS AND RESULTS: A total of 26 consecutive patients with HFrEF on stable clinical conditions were studied. Clinical, echocardiographic parameters and circulating biomarkers were measured at baseline, after 30 and 60 days of S/V treatment. Both systolic blood pressure (SBP) and diastolic blood pressure (DBP) decreased, from 126 ± 15 to 113 ± 4 mmHg (p < 0.001) and from 77 ± 11 to 72 ± 9 mmHg (p = 0.005), respectively, at the end of study. Concomitantly, left ventricular ejection fraction (LVEF) increased by 22.8% from 29.5 ± 5% to 36.2 ± 5%, (p < 0.001) and indexed left ventricular end-systolic volume (LVESVi) decreased by 12% from 38.6 ± 8.7 ml/m2 to 34.0 ± 10.0 ml/m2. (p = 0.007). Circulating levels of PICP, YKL-40, PRA and Aldo decreased by - 42.2%, - 46.8%, - 79.1% and - 76.7%, respectively (p < 0.001 for all), the decrements being already maximal within 30 days of S/V treatment. No significant changes of plasma electrolytes and creatinine were observed during the study (all p > 0.05). CONCLUSIONS: A decrease of circulating markers of inflammation and fibrosis during chronic treatment with S/V is associated with an improvement of hemodynamic and echographic parameters in patients with HRrEF. These data are compatible with an anti-fibrotic and anti-inflammatory effect of S/V, that may contribute to the beneficial outcomes of the drug in this clinical setting.

Prevalence and Rate of Resolution of Left Atrial Thrombus in Patients with Non-Valvular Atrial Fibrillation: A Two-Center Retrospective Real-World Study.

BACKGROUND AND AIM: Thromboembolic events due to left atrial appendage (LAA) thrombosis are the main complication of non-valvular atrial fibrillation (NVAF). Although anticoagulants are effective in patients with NVAF, a minimal residual thromboembolic risk persists. Little is known about the prevalence of LAA thrombus and the rate of resolution after the recommended period of anticoagulation therapy, including vitamin K antagonists (VKA), heparin, and non-vitamin K antagonist oral anticoagulants (NOACs). METHODS AND RESULTS: We aimed to study the prevalence of LAA thrombus in an unselected cohort of patients undergoing transesophageal echocardiogram (TEE), and the determinants of LAA thrombus resolution. We retrospectively analyzed 8888 consecutive TEEs performed over five years in two high-volume centers and included all patients with LAA thrombus. A total of 265 patients (3%) had an LAA thrombus. Among these, 97% presented with AF. Fifty-eight percent of patients were on anticoagulants at least three weeks before the diagnosis. After the LAA thrombus diagnosis, VKAs were prescribed in 52%, heparin in 18.5%, and NOAC in 27% of patients. Among the 183 patients with repeat TEE, performed at (25-75th) 39 days (21-84), 67% showed resolution of the LAA thrombus. Although the rate of thrombus resolution was higher in patients treated with NOACs (NOACs 71%, VKA 66%, Heparin 60%) the difference between anticoagulants was statistically non-significant (VKA, OR 0.9, p = 0.83; NOAC, OR 1.23, p = 0.42; heparin, OR 0.69, p = 0.35). Thus, NOACs were demonstrated to be at least as effective as other anticoagulants in the rate of LAA thrombus resolution. Upon multivariate-adjusted analysis, higher LAA emptying velocities were the only predictor of thrombus resolution. In conclusion, the majority of patients were already on anticoagulants. NOACs could be at least as effective as other anticoagulants, yielding an LAA thrombus resolution in two-thirds of patients. This may have clinical relevance, especially in patients undergoing cardioversion or catheter ablation.

Impact of Right Ventricular-Pulmonary Circulation Coupling on Mortality in SARS-CoV-2 Infection.

Background The COVID-19-related pulmonary effects may negatively impact pulmonary hemodynamics and right ventricular function. We examined the prognostic relevance of right ventricular function and right ventricular-to-pulmonary circulation coupling assessed by bedside echocardiography in patients hospitalized with COVID-19 pneumonia and a large spectrum of disease independently of indices of pneumonia severity and left ventricular function. Methods and Results Consecutive COVID-19 subjects who underwent full cardiac echocardiographic evaluation along with gas analyses and computed tomography scans were included in the study. Measurements were performed offline, and quantitative analyses were obtained by an operator blinded to the clinical data. We analyzed 133 patients (mean age 69±12 years, 57% men). During a mean hospital stay of 26±16 days, 35 patients (26%) died. The mean tricuspid annular plane systolic excursion/pulmonary artery systolic pressure (TAPSE/PASP) ratio was 0.48±0.18 mm/Hg in nonsurvivors and 0.72±0.32 mm/Hg in survivors (P=0.002). For each 0.1 mm/mm Hg increase in TAPSE/PASP, there was a 27% lower risk of in-hospital death (hazard ratio [HR], 0.73 [95% CI, 0.59-0.89]; P=0.003). At multivariable analysis, TAPSE/PASP ratio remained a predictor of in-hospital death after adjustments for age, oxygen partial pressure at arterial gas analysis/fraction of inspired oxygen, left ventricular ejection fraction, and computed tomography lung score. Receiver operating characteristic analysis was used to identify the cutoff value of the TAPSE/PASP ratio, which best specified high-risk from lower-risk patients. The best cutoff for predicting in-hospital mortality was TAPSE/PASP <0.57 mm/mm Hg (75% sensitivity and 70% specificity) and was associated with a >4-fold increased risk of in-hospital death (HR, 4.8 [95% CI, 1.7-13.1]; P=0.007). Conclusions In patients hospitalized with COVID-19 pneumonia, the assessment of right ventricular to pulmonary circulation coupling appears central to disease evolution and prediction of events. TAPSE/PASP ratio plays a mainstay role as prognostic determinant beyond markers of lung injury.

An Update on New Generation Transcatheter Aortic Valves and Delivery Systems.

Over the last 15 years, the management of aortic valve disease has been changed by transcatheter aortic valve replacement, which has become the standard of care across the entire spectrum of surgical risk. As a result of continuous evolution of this technique, several next-generation transcatheter heart valves (THVs) have been developed to minimize procedural complications and improve patient outcomes. This review aims to provide an update on the new generation THVs and delivery systems.

Risk of cardiovascular complications during non-cardiac surgery and preoperative cardiac evaluation.

The preoperative evaluation of candidates to non-cardiac surgery requires a knowledge of factors related both to the type of surgery and to the risk of each patient, in order to predict the potential cardiovascular complications. Over the past several decades, the field of preoperative cardiac evaluation before non-cardiac surgery has evolved substantially on the basis of the current guidelines of international medical societies. The aim of this paper is to summarize available evidence on the risk of non-cardiac surgery, focusing on appropriate cardiovascular assessment prior to surgery.

Lipoprotein(a) and aortic valve stenosis: A casual or causal association?

AIMS: This review aims to provide an update of available methods for imaging calcification activity and potential therapeutic options. DATA SYNTHESIS: Aortic valve calcification represents the most common heart valve condition requiring treatment among adults in Western societies. No medical therapies are proven to be effective in treating symptoms or reducing disease progression. Therefore, surgical or transcatheter aortic valve replacement remains the only available treatment option. Elevated circulating concentrations of lipoprotein(a) is strongly associated with degenerative aortic stenosis. This relationship was first observed in prospective observational studies, and the causal relationship was confirmed in genetic studies. CONCLUSIONS: New therapeutic targets have been identified and new imaging techniques could be used to test the effectiveness of new agents and further clarify the pathophysiology of AVS. No therapy that specifically lowers Lp (a) levels has been approved for clinical use.

Diagnosis and Management of Aortic Valve Stenosis: The Role of Non-Invasive Imaging.

Aortic stenosis is the most common heart valve disease necessitating surgical or percutaneous intervention. Imaging has a central role for the initial diagnostic work-up, the follow-up and the selection of the optimal timing and type of intervention. Referral for aortic valve replacement is currently driven by the severity and by the presence of aortic stenosis-related symptoms or signs of left ventricular systolic dysfunction. This review aims to provide an update of the imaging techniques and seeks to highlight a practical approach to help clinical decision making.