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Abstract Background Takotsubo cardiomyopathy (TC) is an emergency cardiovascular disease, with clinical and paraclinical manifestations similar to acute myocardial infarction (AMI), but it is characterized by reversible systolic dysfunction of the left ventricle (LV) in the absence (most of the time) of obstructive coronary artery disease (CAD). Management of patients with TC TC seems to be more frequent in post-menopausal women and it is triggered by emotional or physical stress. The diagnosis of TC is based on the Mayo Clinic criteria. Initially, patients with TC should be treated as those with AMI and carefully monitored in intensive care unit. Urgent clinical and paraclinical distinction between TC and AMI is mandatory in all patients, because of the different therapeutical management between the two diseases. Chest pain and dyspnea are the most common symptoms in TC. Paraclinical diagnosis is based on cardiac biomarkers, electrocardiogram (ST-segment elevation/T wave inversion in precordial leads without reciprocal ST-segment depression in inferior leads and absence of Q waves), echocardiography (LV systolic dysfunction, regional wall motion abnormalities extended in more than one coronary territory), cardiac magnetic resonance and in most of the cases the positive diagnosis is established by performing CA to exclude obstructive CAD. The prognosis of patients with TC is considered benign in most cases, with a complete LV function recovery, but severe complications may occur, such as cardiogenic shock, LV free wall rupture, life-threatening arrhythmia, and cardiac arrest. Postoperative TC may develop after any type of surgical intervention due to acute stress and it should be differentiated from postoperative AMI. The management of patients with TC is medical and it is based on supportive care and the treatment of heart failure, while patients with AMI require myocardial revascularization. Conclusions TC leads to transient LV dysfunction that mimics AMI from which it should be differentiated for a good therapeutic approach. Patients with TC should be carefully monitored during hospitalization because they have a high recovery potential if optimally treated.

Staphylococcus aureus, a prevalent human pathogen and a leading cause of hospital-acquired infections, is increasingly evolving antibiotic-resistant strains, increasing mortality and morbidity rates. Anti-staphylococcal vaccine research for prevention and treatment has become a priority. Antibodies against specific S. aureus components, toxins, and polysaccharides have demonstrated encouraging results in animal studies regarding protection against colonization or infection. However, human immunization trials have yielded less optimistic outcomes, with no anti-staphylococcal having passed clinical trials up to now. Although multiple formulation attempts triggered strong antibody responses, the vaccines could not effectively prevent S. aureus infections. This article delves into the results of immunotherapeutic strategies against S. aureus in both animal and human studies, discussing the feasibility of adequate immunization approaches against S. aureus in humans.

Abstract Background Atherosclerosis is one of the most frequent cardiovascular diseases. The dilemma faced by physicians is whether to treat or postpone the revascularization of lesions that fall within the intermediate range given by an invasive fractional flow reserve (FFR) measurement. The paper presents a monocentric study for lesions significance assessment that can potentially cause ischemia on the large coronary arteries. Methods A new dataset is acquired, comprising the optical coherence tomography (OCT) images, clinical parameters, echocardiography and FFR measurements collected from 80 patients with 102 lesions, with stable multivessel coronary artery disease. Having the ground truth given by the invasive FFR measurement, the dataset is challenging because almost 40% of the lesions are in the gray zone, having an FFR value between 0.75 and 0.85. Twenty-six features are extracted from OCT images, clinical characteristics, and echocardiography and the most relevant are identified by examining the models’ accuracy. An ensembled learning is performed for solving the binary classification problem of lesion significance considering the leave-one-out cross-validation approach. Results Ensemble models are designed from the multi-features voting from 5 features models by prediction aggregation with a maximum accuracy of 81.37% and a maximum area under the curve score (AUC) of 0.856. Conclusions The proposed explainable supervised learning-based lesion classification is a new method that can be improved by training with a larger multicenter dataset for further designing a tool for guiding the decision making of the clinician for the cases outside the gray zone and for the other situation extra clinical information about the lesion is needed.

Atrial fibrillation (AFib) is characterized by a complex genetic component. We aimed to investigate the association between variations in genes related to cardiac ion handling and AFib in a cohort of Romanian patients with hypertrophic cardiomyopathy (HCM). Forty-five unrelated probands with HCM were genotyped by targeted next-generation sequencing (NGS) for 24 genes associated with cardiac ion homeostasis. Subsequently, the study cohort was divided into two groups based on the presence (AFib+) or absence (AFiB−) of AFib detected during ECG monitoring. We identified two polymorphisms (rs1805127 located in KCNE1 and rs55742440 located in SCN1B) linked to AFib susceptibility. In AFib+, rs1805127 was associated with increased indexed left atrial (LA) maximal volume (LAVmax) (58.42 ± 21 mL/m2 vs. 32.54 ± 6.47 mL/m2, p < 0.001) and impaired LA strain reservoir (LASr) (13.3 ± 7.5% vs. 24.4 ± 6.8%, p < 0.05) compared to those without respective variants. The rs55742440 allele was less frequent in patients with AFib+ (12 out of 25, 48%) compared to those without arrhythmia (15 out of 20, 75%, p = 0.05). Also, AFib+ rs55742440 carriers had significantly lower LAVmax compared to those who were genotype negative. Among patients with HCM and AFib+, the rs1805127 variant was accompanied by pronounced LA remodeling, whereas rs55742440’s presence was related to a milder LA enlargement.

Introduction. Ultrasound-guided (US-guided) percutaneous drainage (PD) of abdominal collections represents the first-choice alternative to surgical intervention. The aim of our study was to assess the efficacy and safety of PD of visceral and non-visceral abdominal collections by reviewing our personal experience over a period of 5 years. Material and methods. The present study included 66 patients who underwent PD under ultrasound guidance. We analyzed clinical variables (collection size, catheter diameter, collection type, microbiological analysis, antibiotic regimens) along with the outcomes of the procedure. Results. Visceral collections were predominant, encompassing 38 hepatic abscesses and 1 splenic hematoma. Microbiological analysis showed that the majority (54%) were monomicrobial. The most encountered pathogens were Klebsiella pneumoniae and Escherichia coli. Technical success was achieved in all cases and clinical success was observed in 84.6% of the cases. No immediate procedural complications were detected. There were 6 patients who needed reinterventions, either by catheter replacement or by surgical treatment. The mortality rate was 4.5%, due to patients’ poor overall status and oncological comorbidities. Conclusions. Percutaneous drainage under ultrasound guidance is a safe and effective procedure in the management of abdominal collections.

People living with human immunodeficiency virus have increased cardiovascular risk due to a higher prevalence of traditional and particular risk factors such as chronic inflammation, immune dysregulation, endothelial dysfunction, coagulation abnormalities and antiretroviral therapy. In developed countries, coronary artery disease has become the most frequent cardiovascular disease and an important cause of mortality in these patients. The symptomatology of an acute coronary syndrome can be atypical, and the prevalence of each type of acute coronary syndrome is reported differently. Regarding coronary artery disease severity in people living with HIV, the literature data indicates that the presence of single-vessel disease is akin to that of HIV-negative patients, and their short-term prognosis is unclear. This study aims to assess the clinical characteristics, biological parameters, angiographical features and short-term prognosis of acute coronary syndrome in a cohort of Romanian people living with human immunodeficiency virus.

Cardiovascular disease (CVD) impacts hundreds of millions of people each year and is the main cause of death worldwide, with atherosclerosis being its most frequent form of manifestation. Low-density lipoproteins (LDL) have already been established as a significant cardiovascular risk factor, but more recent studies have shown that small, dense LDLs are the ones more frequently associated with a higher overall risk for developing atherosclerotic cardiovascular disease. Ever since atherogenic phenotypes were defined for the first time, LDL subfractions have been continuously analyzed in order to identify those with a higher atherogenic profile that could further become not only high-accuracy, effective prognostic biomarkers, but also treatment targets for novel lipid-lowering molecules. This review sets out to comprehensively evaluate the association between various LDL-subfractions and the risk of further developing major adverse cardiovascular events, by assessing both genetical and clinical features and focusing on their physiopathological characteristics, chemical composition, and global ability to predict long-term cardiovascular risk within the general population. Further research is required in order to establish the most beneficial range of LDL-C levels for both primary and secondary prevention, as well as to implement LDL subfraction testing as a routine protocol, separately from the general assessment of the other traditional cardiovascular risk factors.

AbstractIntroduction The inflammatory hypothesis of atherosclerosis is appealing in acute coronary syndromes, but the dynamics and precise role are not established.Objectives The study investigates the levels of C reactive protein (CRP), interleukin 1β (IL-1β) and stromal-derived factor 1α (SDF-1α) at the time of acute myocardial infarction (AMI) and at 1 and 6 months afterwards, compared with a control group.Results In the acute phase of AMI, CRP and SDF-1α were significantly higher, while IL-1β showed lower levels compared with controls. CRP positively correlated with coronary stenosis severity (rho = 0.3, p=.05) and negatively related with left ventricle ejection fraction (LVEF) at 1 month (rho= −0.43, p=.05). IL-1β weakly correlated with the severity of coronary lesions (rho =0.29, p=.02) and strongly with LVEF (rho= −0.8, p=.05). SDF-1α, slightly correlated with LVEF at 1 month (rho = 0.22, p=.01) and with the severity of coronary atherosclerosis (rho= −0.41, p=.003).Conclusions CRP, IL-1β and SDF-1α have important dynamic in the first 6 months after AMI and CRP and SDF-1α levels correlated with the severity of coronary lesions and LVEF at 1 month after the acute ischaemic event.

Ischemic heart disease represent a heavy burden for the medical systems irrespective of the methods used for diagnosis and treatment of such patients in the daily medical routine. The present paper depicts the protocol of a study whose main aim is to develop, implement and test an artificial intelligence algorithm and cloud based platform for fully automated PCI guidance using coronary angiography images. We propose the utilisation of multiple artificial intelligence based models to produce three-dimensional coronary anatomy reconstruction and assess function- post-PCI FFR computation- for developing an extensive report describing and motivating the optimal PCI strategy selection. All the relevant artificial intelligence model outputs (anatomical and functional assessment-pre- and post-PCI) are presented to the clinician via a cloud platform, who can then take the utmost treatment decision. The physician will be provided with multiple scenarios and treatment possibilities for the same case allowing a real-time evaluation of the most appropriate PCI strategy planning and follow-up. The artificial intelligence algorithms and cloud based PCI selection workflow will be verified and validated in a pilot clinical study including subjects prospectively to compare the artificial intelligence services and results against annotations and invasive measurements.

People living with human immunodeficiency virus have an increased cardiovascular risk due to higher prevalence of traditional risk factors, such as smoking, dyslipidemia, hypertension, diabetes, or obesity, and particular risk factors, such as inflammation, endothelial dysfunction, and antiretroviral therapy. Thus, people living with human immunodeficiency virus can develop accelerated atherosclerosis. The incidence of coronary artery disease in these patients may be twice as high compared with that of HIV-negative individuals with similar characteristics. “Porcelain aorta” is a term used to describe extensive circumferential calcification of the thoracic aorta. The pathophysiology of porcelain aorta is not fully understood. We present a case of a young man who was a smoker and living with HIV since childhood, without other traditional cardiovascular risk factors, who presented to the emergency room with a positive stress test for myocardial ischemia. Transthoracic echocardiography revealed normal regional and global myocardial wall motion, ascending aorta ectasia, and moderate aortic regurgitation. Coronary angiography showed a critical calcified proximal left anterior descending artery stenosis and an important calcification of the thoracic aorta. Therefore, the most important challenge was the management of coronary syndrome in a young person living with HIV, with associated porcelain aorta and aortic regurgitation.

β-blocker poisoning is frequently observed because of its primary use for the treatment of cardiovascular diseases. The management of β-blocker toxicity is dependent on the cardiovascular response and the severity of presentation. The present study describes the case of a patient with combined drug intoxication, β-blocker, digoxin, benzodiazepines, acetaminophen and opiates in a suicidal attempt. A 63-year-old female was found somnolent and in a confused state at her residence following intentional poly-drug ingestion. Upon presentation, she was found to be hemodynamically unstable and was thus treated with vasopressors. The toxicological screening performed upon presentation was positive for polydrug ingestion. On day 3, the patient developed chest pain and ST-segment elevation in anterior leads, while transthoracic echocardiographic assessment disclosed a non-dilated left ventricle with moderate dysfunction and akinesia of the apex. Coronary angiogram revealed normal coronary arteries and, subsequently, the diagnosis of Takotsubo cardiomyopathy (TTC) was suspected. Supportive treatment was initiated with favorable evolution and left ventricular ejection fraction normalization. The management of hemodynamic instability with vasopressors should be judiciously administered in the treatment of β-blocker poisoning, in view of the adverse effects on cardiac functions, including stress cardiomyopathy.

Acute myocardial infarction occurs when blood supply to a particular coronary artery is cut off, causing ischemia or hypoxia and subsequent heart muscle destruction in the vascularized area. With a mortality rate of 17% per year, myocardial infarction (MI) is still one of the top causes of death globally. Numerous studies have been done to identify the genetic risk factors for myocardial infarction, as a positive family history of heart disease is one of the most potent cardiovascular risk factors. The goal of this review is to compile all the information currently accessible in the literature on the genes associated with AMI. We performed a big data analysis of genes associated with acute myocardial infarction, using the following keywords: “myocardial infarction”, “genes”, “involvement”, “association”, and “risk”. The analysis was done using PubMed, Scopus, and Web of Science. Data from the title, abstract, and keywords were exported as text files and imported into an Excel spreadsheet. Its analysis was carried out using the VOSviewer v. 1.6.18 software. Our analysis found 28 genes which are mostly likely associated with an increased risk for AMI, including: PAI-1, CX37, IL18, and others. Also, a correlation was made between the results obtained in the big data analysis and the results of the review. The most important genes increasing the risk for AMI are lymphotoxin-a gene (LTA), LGALS2, LDLR, and APOA5. A deeper understanding of the underlying functional genomic circuits may present new opportunities for research in the future.

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Staphylococcus aureus, a prevalent human pathogen and a leading cause of hospital-acquired infections, is increasingly evolving antibiotic-resistant strains, increasing mortality and morbidity rates. Anti-staphylococcal vaccine research for prevention and treatment has become a priority. Antibodies against specific S. aureus components, toxins, and polysaccharides have demonstrated encouraging results in animal studies regarding protection against colonization or infection. However, human immunization trials have yielded less optimistic outcomes, with no anti-staphylococcal having passed clinical trials up to now. Although multiple formulation attempts triggered strong antibody responses, the vaccines could not effectively prevent S. aureus infections. This article delves into the results of immunotherapeutic strategies against S. aureus in both animal and human studies, discussing the feasibility of adequate immunization approaches against S. aureus in humans. [ABSTRACT FROM AUTHOR]

Ischemic heart disease is one of the most prevalent diseases with a high impact on mortality and morbidity. The main process implicated in acute coronary syndromes (ACS) including its most severe form, the ST elevation myocardial infarction (STEMI), is the development of thrombosis subsequently of plaque erodation or rupture. The thrombus is formed by aggregates of platelets that furthermore drive the process of coagulation, that in this turn stimulates platelet aderation and aggregation, causing a vicious circle. From these physiopathological mechanims derive the indication and role of antiplatelets and anticoagulation in STEMI. Antiplatelets and anticoagulants play a central role in the therapeutic management of STEMI along with the interventional therapy. Correctly conducted by all physicians involved in the management of patients with STEMI, it reduces the area of ischemia, as well as mortality and other major adverse cardiovascular events. The following article will review the antithrombotic treatment adjuvant to the interventional treatment and the evidence based indications for treatment in STEMI.

Cardiovascular disease (CVD) is the number one cause of death worldwide, and coronary artery disease (CAD) is the most prevalent CVD, accounting for 42% of these deaths. In view of the limitations of the anatomical evaluation of CAD, Fractional Flow Reserve (FFR) has been introduced as a functional diagnostic index. Herein, we evaluate the feasibility of using deep neural networks (DNN) in an ensemble approach to predict the invasively measured FFR from raw anatomical information that is extracted from optical coherence tomography (OCT). We evaluate the performance of various DNN architectures under different formulations: regression, classification—standard, and few-shot learning (FSL) on a dataset containing 102 intermediate lesions from 80 patients. The FSL approach that is based on a convolutional neural network leads to slightly better results compared to the standard classification: the per-lesion accuracy, sensitivity, and specificity were 77.5%, 72.9%, and 81.5%, respectively. However, since the 95% confidence intervals overlap, the differences are statistically not significant. The main findings of this study can be summarized as follows: (1) Deep-learning (DL)-based FFR prediction from reduced-order raw anatomical data is feasible in intermediate coronary artery lesions; (2) DL-based FFR prediction provides superior diagnostic performance compared to baseline approaches that are based on minimal lumen diameter and percentage diameter stenosis; and (3) the FFR prediction performance increases quasi-linearly with the dataset size, indicating that a larger train dataset will likely lead to superior diagnostic performance.

The most common congenital cyanotic heart disease is described in the literature as the Tetralogy of Fallot. This abnormality is characterized by the presence of ventricular septal defect (VSD), obstruction of the right ventricular (RV) outflow tract, right ventricular hypertrophy, and overriding aorta. In patients with pulmonary atresia with ventricular septal defect (PA/VSD), major aortopulmonary collateral arteries (MAPCA) are common; however, although some of them do not have PA/VSD, they do have other particular anatomical variants. The case we are presenting in this article is a rare mild symptomatic adult noncorrected TOF, with preserved RV function, right aortic arch, and MAPCAs (“classic” thoracic MAPCAs but also abdominal MAPCAs). The anatomy of a complex congenital defect is well illustrated by cardiac magnetic resonance (CMR) and computer tomography angiography (CTA), and these imaging techniques are mostly used to understand the relative clinical “silence” TOF. Imaging scans thus play a key role in the evaluation of these patients, being very important to know the indications and limitations of each method, but also to learn to combine them with each other depending on the clinical picture of the patient’s presentation. Additionally, the close collaboration between clinicians and imagers is essential for a correct, complete and detailed preoperative evaluation, being subsequently essential for cardiovascular surgeons, the whole team thus deciding the best therapeutic management.

Ischemic heart disease is one of the most important causes of mortality and morbidity worldwide. Revascularization of coronary stenosis inducing ischemia, either by percutaneous or surgical intervention, significantly reduces major adverse cardiovascular events and improves quality of life. However, in cases of intermediate lesions, classified by a diameter stenosis between 50 and 90% by European guidelines and 40–70% in American counterparts with no clear evidence of ischemia, the indication of revascularization and impact is determined using various methods that altogether comprehensively evaluate the lesions. This review will discuss the various techniques to assess intermediate stenoses, highlighting indications and advantages, but also drawbacks. Fractional flow rate (FFR) and instantaneous wave-free ratio (iFR) are the gold standard for the functional evaluation of intermediate lesions, but there are clinical circumstances in which these pressure-wire-derived indices are not accurate. Complementary invasive investigations, mainly intravascular ultrasound and/or optical coherence tomography, offer parameters that can be correlated with FFR/iFR and additional insights into the morphology of the plaque guiding the eventual percutaneous intervention in terms of length and size of stents, thus improving the outcomes of the procedure. The development of artificial intelligence and machine learning with advanced algorithms of prediction will offer multiple scenarios for treatment, allowing real-time selection of the best strategy for revascularization.

Deep learning (DL)-based algorithms have demonstrated remarkable results in potentially improving the performance and the efficiency of healthcare applications. Since the data typically needs to leave the healthcare facility for performing model training and inference, e.g., in a cloud based solution, privacy concerns have been raised. As a result, the demand for privacy-preserving techniques that enable DL model training and inference on secured data has significantly grown. We propose an image obfuscation algorithm that combines a variational autoencoder (VAE) with random non-bijective pixel intensity mapping to protect the content of medical images, which are subsequently employed in the development of DL-based solutions. A binary classifier is trained on secured coronary angiographic frames to evaluate the utility of obfuscated images in the context of model training. Two possible attack configurations are considered to assess the security level against artificial intelligence (AI)-based reconstruction attempts. Similarity metrics are employed to quantify the security against human perception (structural similarity index measure and peak signal-to-noise-ratio). Furthermore, expert readers performed a visual assessment to determine to what extent the reconstructed images are protected against human perception. The proposed algorithm successfully enables DL model training on obfuscated images with no significant computational overhead while ensuring protection against human eye perception and AI-based reconstruction attacks. Regardless of the threat actor’s prior knowledge of the target content, the coronary vessels cannot be entirely recovered through an AI-based attack. Although a drop in accuracy can be observed when the classifier is trained on obfuscated images, the performance is deemed satisfactory in the context of a privacy–accuracy trade-off.

Background: Visual estimation (VE) of coronary stenoses is the first step during invasive coronary angiography. The aim of this study was to evaluate the accuracy of VE together with invasive functional assessment (IFA) in defining the functional significance (FS) of coronary stenoses based on the opinion of multiple operators. Methods: Fourteen independent operators visually evaluated 133 coronary lesions which had a previous FFR measurement, indicating the degree of stenosis (DS), FS and IFA intention. We determined the accuracy of FS prediction using several scenarios combining individual and group decision, considering IFA as deemed necessary by the operator or only in intermediate lesions. Results: The accuracy of VE in predicting FS was largely variable between operators (average 66.1%); it improved significantly when IFA was used either as per operator’s opinion (86.3%; p < 0.0001) or only in intermediate DS (82.9; p < 0.0001). There was no significant difference between using IFA per observer’s opinion or only in intermediate DS lesions (p = 0.166). The poorest accuracy of VE for FS was obtained in intermediate DS lesions (59.1%). Conclusions: There are significant inter-observer differences in reporting the degree of DS, while the accuracy of VE prediction of FS is also largely dependent on the operator, and the worst performance is obtained in the evaluation of intermediate DS.

Background and Objectives: biomarker-based studies are the cornerstone of precision medicine, providing key data for tailored medical care. Enrollment of the planned number of patients is a critical determinant of a successful clinical trial. Moreover, for inclusive medical care, patients from different socio-demographic backgrounds must be recruited. Still, a significant number of trials fail to reach these prerequisites. Designing the informed consent forms based on the patients’ feedback could optimize accrual. We aimed to explore the attitudes of patients from a Romanian tertiary cardiology center towards participation in biomarker-based clinical trials. Materials and Methods: three hundred forty inpatients were interviewed based on a semi-structured questionnaire which included four sections: demographics, personal medical history, attitudes and trust. Results: Roughly, 62.5% of the respondents were interested in enrolling, while altruistic reasons were the most frequently expressed. Clear exposure of the possible risks was most valued (37.78%), followed by the possibility of directly communicating with the research team (23.78%). The most frequently chosen answer by acutely ill patients was improvement of their health, whereas chronically ill individuals indicated the possibility of withdrawal without affecting the quality of medical care. Importantly, the participation rate could be improved if the invitation to enrollment were made by both the current physician and the study coordinator (p = 0.0001). The level of trust in researchers was high in more than 50% of the respondents, and was correlated with therapeutic compliance and with the desire to join a biomarker study. Conclusions: the information gained will facilitate a tailored approach to patient enrollment in future biomarker-based studies in our clinic.

The pathophysiology of accelerated atherosclerosis in people living with Human Immunofediciency virus (HIV) is complex. Coronary artery disease (CAD) has become an important cause of mortality in these patients. They often have atypical symptoms, leading to frequently missed diagnoses. We report a case of a 51-year-old male undergoing antiretroviral therapy who was admitted for acute coronary syndrome. He had severe coronary artery disease that involved difficult management.

Background: The aim of this study was to explore the rare variants in a cohort of Romanian index cases with hypertrophic cardiomyopathy (HCM). Methods: Forty-five unrelated probands with HCM were screened by targeted next generation sequencing (NGS) of 47 core and emerging genes connected with HCM. Results: We identified 95 variants with allele frequency < 0.1% in population databases. MYBPC3 and TTN had the largest number of rare variants (17 variants each). A definite genetic etiology was found in 6 probands (13.3%), while inconclusive results due to either known or novel variants were established in 31 cases (68.9%). All disease-causing variants were detected in sarcomeric genes (MYBPC3 and MYH7 with two cases each, and one case in TNNI3 and TPM1 respectively). Multiple variants were detected in 27 subjects (60%), but no proband carried more than one causal variant. Of note, almost half of the rare variants were novel. Conclusions: Herein we reported for the first time the rare variants identified in core and putative genes associated with HCM in a cohort of Romanian unrelated adult patients. The clinical significance of most detected variants is yet to be established, additional studies based on segregation analysis being required for definite classification.

The concepts underlying hypertrophic cardiomyopathy (HCM) pathogenesis have evolved greatly over the last 60 years since the pioneering work of the British pathologist Donald Teare, presenting the autopsy findings of “asymmetric hypertrophy of the heart in young adults”. Advances in human genome analysis and cardiac imaging techniques have enriched our understanding of the complex architecture of the malady and shaped the way we perceive the illness continuum. Presently, HCM is acknowledged as “a disease of the sarcomere”, where the relationship between genotype and phenotype is not straightforward but subject to various genetic and nongenetic influences. The focus of this review is to discuss key aspects related to molecular mechanisms and imaging aspects that have prompted genotype−phenotype correlations, which will hopefully empower patient-tailored health interventions.