Diagnosis Of Hypertrophic Cardiomyopathy Research Articles

Hypertrophic cardiomyopathy and competitive sports: let 'em play?

Hypertrophic cardiomyopathy (HCM) is one of the most common cardiovascular genetic conditions. Although most patients with HCM typically do well clinically, there is a small but real incidence of sudden cardiac death. A diagnosis of HCM was previously a reason for complete exclusion in sports, particularly competitive sports.However, many of these recommendations are based on expert consensus, and much data has been published in the last decade furthering the scientific knowledge in this area, and allowing athletes who may have been previously excluded the potential to participate in strenuous activities and competitive sports. With recent publications on participation in sports with HCM, as well as an emphasis on shared decision-making, more athletes with HCM are participating in competitive sports, even at a professional level. Even contact sports in the presence of an implantable cardioverter-defibrillator are no longer mutually exclusive in the current era. Previous guidelines were likely overly restrictive for patients with HCM. Although there is a risk of sudden death that cannot be ignored, the potential for shared decision making as well as medical guidance are entering a new era in all aspects of medicine, particularly in sports participation.

Frequency of misdiagnosis in hypertrophic cardiomyopathy.

Hypertrophic Cardiomyopathy (HCM) is characterized by unexplained left ventricle hypertrophy (LVH) ≥15mm. The condition is often hereditary and family screening is recommended to reduce the risk of adverse disease complications and premature death among relatives. Correct diagnosis of index patients is important to ensure that only relatives at risk of disease development are invited for family screening. To investigate if patients with ICD-10 codes for HCM (DI421) or hypertrophic obstructive cardiomyopathy (DI422) fulfilled recognised diagnostic criteria. All patients with ICD-10 codes for HCM or HOCM at a Department of Cardiology were identified and had their diagnosis validated by a cardiac investigation or a review of their medical records and previous investigations. Two hundred and forty patients had ICD-10 codes for HCM/HOCM, of whom 202 (84%, 202/240) underwent re-examination, while 38 (16%, 38/240) had their hospital notes reviewed. Seventy-six patients (32%, n=76/240) did not fulfil diagnostic criteria, of whom 39, (51%, n=39/76) had normal (10mm) or modest LV wall thickness (11-14mm). The remaining 37 patients (49%, n=37/76) had LVH ≥15mm, which was well-explained by uncontrolled hypertension, (32%, n=24/76), aortic valve stenosis (19%, n=7/76) or wild-type amyloidosis (16%, 6/76). One-third of patients with ICD-10 codes for HCM or HOCM did not fulfil recognised diagnostic criteria. Incorrect diagnosis of HCM may cause unnecessary family investigations which may be associated with anxiety, and a waste of health care resources. This highlights the need for specialised cardiomyopathy services to ensure correct diagnosis and management of HCM.

Implementing a clinical scientist-led screening clinic for hypertrophic and dilated cardiomyopathies

BackgroundThe burden of screening for inherited cardiac conditions on health services grows ever larger, with each new diagnosis necessitating screening of additional family members. Screening these usually asymptomatic, low-risk individuals is currently performed by consultant cardiologists, consuming vital clinic resources that could otherwise be diverted to sicker patients requiring specialist consultant input. Clinical scientists now constitute a highly skilled and often underutilised group of individuals with training in areas such as clinical evaluation, 12-lead electrocardiography (ECG) interpretation, and echocardiography. These skills place them in a unique position to offer a full screening evaluation in a single consultation. The aim of this study was to implement and evaluate a novel clinical scientist-led screening clinic for first-degree relatives of patients with hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). The clinical scientist-led screening clinic was established at a London tertiary centre to allow review of asymptomatic, first-degree relatives of patients with a confirmed diagnosis of HCM or DCM, independent of a cardiology consultant. Patients were evaluated with history, examination, ECG, and echocardiography, with further investigations if deemed necessary. A retrospective review was performed of the first 200 patients seen in the clinic.ResultsOf the 200 individuals reviewed between September 2019 and July 2022, 99 had a proband with HCM and 101 a proband with DCM. Overall, 169 individuals (85%) revealed normal screenings and were discharged. Thirty-one individuals (15.5%), all asymptomatic, revealed ECG changes and/or significant echocardiographic findings. Of these, 21 individuals (10.5% of the total cohort) were subsequently diagnosed with a cardiomyopathy or early phenotypic changes consistent with a cardiomyopathy (11 with HCM and 10 with DCM). These individuals were referred on to an inherited cardiac conditions consultant clinic for regular follow-up. Overall, 179 consultant clinic appointments were saved which could instead be allocated to patients requiring specialist consultant input.ConclusionsThis is the first description of a clinical scientist-led screening clinic for first-degree relatives of patients with HCM and DCM. The findings demonstrate that implementation of such a service into routine clinical practice is feasible, effective, safe, and can free up capacity in consultant clinics for patients requiring specialist input.

Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future.

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy. It follows an autosomal dominant inheritance pattern in most cases, with incomplete penetrance and heterogeneity. It is familial in 60% of cases and most of these are caused by pathogenic variants in the core sarcomeric genes (MYH7, MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1). Genetic testing using targeted disease-specific panels that utilize next-generation sequencing (NGS) and include sarcomeric genes with the strongest evidence of association and syndrome-associated genes is highly recommended for every HCM patient to confirm the diagnosis, identify the molecular etiology, and guide screening and management. The yield of genetic testing for a disease-causing variant is 30% in sporadic cases and up to 60% in familial cases and in younger patients with typical asymmetrical septal hypertrophy. Genetic testing remains challenging in the interpretation of results and classification of variants. Therefore, in 2015 the American College of Medical Genetics and Genomics (ACMG) established guidelines to classify and interpret the variants with an emphasis on the necessity of periodic reassessment of variant classification as genetic knowledge rapidly expands. The current guidelines recommend focused cascade genetic testing regardless of age in phenotype-negative first-degree relatives if a variant with decisive evidence of pathogenicity has been identified in the proband. Genetic test results in family members guide longitudinal clinical surveillance. At present, there is emerging evidence for genetic test application in risk stratification and management but its implementation into clinical practice needs further study. Promising fields such as gene therapy and implementation of artificial intelligence in the diagnosis of HCM are emerging and paving the way for more effective screening and management, but many challenges and obstacles need to be overcome before establishing the practical implications of these new methods.

Anderson-Fabry disease management: role of the cardiologist.

Anderson-Fabry disease (AFD) is a lysosomal storage disorder characterized by glycolipid accumulation in cardiac cells, associated with a peculiar form of hypertrophic cardiomyopathy (HCM). Up to 1% of patients with a diagnosis of HCM indeed have AFD. With the availability of targeted therapies for sarcomeric HCM and its genocopies, a timely differential diagnosis is essential. Specifically, the therapeutic landscape for AFD is rapidly evolving and offers increasingly effective, disease-modifying treatment options. However, diagnosing AFD may be difficult, particularly in the non-classic phenotype with prominent or isolated cardiac involvement and no systemic red flags. For many AFD patients, the clinical journey from initial clinical manifestations to diagnosis and appropriate treatment remains challenging, due to late recognition or utter neglect. Consequently, late initiation of treatment results in an exacerbation of cardiac involvement, representing the main cause of morbidity and mortality, irrespective of gender. Optimal management of AFD patients requires a dedicated multidisciplinary team, in which the cardiologist plays a decisive role, ranging from the differential diagnosis to the prevention of complications and the evaluation of timing for disease-specific therapies. The present review aims to redefine the role of cardiologists across the main decision nodes in contemporary AFD clinical care and drug discovery.

A MYH7 variant in a five-generation-family with hypertrophic cardiomyopathy.

Background: Hypertrophic cardiomyopathy (HCM) is a genetic condition with a prevalence of 1:500-1:3 000. Variants in genes encoding sarcomeric proteins are mainly responsible for the disease. MYH7 gene encoding a myosin heavy chain beta, together with MYPBC3 gene are the two most commonly affected genes. The clinical presentation of this disease varies widely between individuals. This study aims to report a variant of MYH7 responsible for HCM in a five-generation family with a history of cardiac problems. Methods: The diagnosis was established according to the European Society of Cardiology HCM criteria based on two-dimensional Doppler echocardiography or cardiovascular magnetic resonance. Genetic analysis was performed using next-generation-sequencing and Sanger method. Results: The medical history of the presented family began with a prenatal diagnosis of HCM in the first child of a family with previously healthy parents. Five generations of the family had a long history of sudden cardiac death and cardiac problems. A NM_000257.4:c.2342T>A (p.Leu781Gln) variant was detected in the MYH7 gene. It was heterozygous in the proband and in all affected individuals in a large family. The variant was present in 10 affected members of the family, and was absent in 7 members. The clinical course of the disease was severe in several members of the family: three family members died of sudden cardiac death, one patient required heart transplantation, three underwent septal myectomy, and three required implantable cardioverter defibrillator (ICD) implantation. Conclusion: Herein, we report a MYH7 variant responsible for HCM. Familial HCM is inherited primarily in autosomal dominant mode, which is in accordance with our study. However, the presented family showed a broad clinical spectrum of HCM. Out of 10 family members with positive genetic testing 8 had severe presentation of the disease and 2 had a mild phenotype. This suggests that the severity of the disease may depend on other factors, most likely genetic.

Advances in Multi-Modality Imaging in Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is characterized by abnormal growth of the myocardium with myofilament disarray and myocardial hyper-contractility, leading to left ventricular hypertrophy and fibrosis. Where culprit genes are identified, they typically relate to cardiomyocyte sarcomere structure and function. Multi-modality imaging plays a crucial role in the diagnosis, monitoring, and risk stratification of HCM, as well as in screening those at risk. Following the recent publication of the first European Society of Cardiology (ESC) cardiomyopathy guidelines, we build on previous reviews and explore the roles of electrocardiography, echocardiography, cardiac magnetic resonance (CMR), cardiac computed tomography (CT), and nuclear imaging. We examine each modality’s strengths along with their limitations in turn, and discuss how they can be used in isolation, or in combination, to facilitate a personalized approach to patient care, as well as providing key information and robust safety and efficacy evidence within new areas of research.

Pronóstico del trasplante cardiaco en pacientes con miocardiopatía hipertrófica y restrictiva. Análisis de un registro nacional

Introduction and objectivesPosttransplant outcomes among recipients with a diagnosis of hypertrophic cardiomyopathy (HCM) or restrictive cardiomyopathy (RCM) remain controversial. MethodsRetrospective analysis of a nationwide registry of first-time recipients undergoing isolated heart transplant between 1984 and 2021. One-year and 5-year mortality in recipients with HCM and RCM were compared with those with dilated cardiomyopathy (DCM). ResultsWe included 3703 patients (3112 DCM; 331 HCM; 260 RCM) with a median follow-up of 5.0 [3.1-5.0] years. Compared with DCM, the adjusted 1-year mortality risk was: HCM: HR, 1.38; 95%CI, 1.07-1.78; P=.01, RCM: HR, 1.48; 95%CI, 1.14-1.93; P=.003. The adjusted 5-year mortality risk was: HCM: HR, 1.17; 95%CI, 0.93-1.47; P=.18; RCM: HR, 1.52; 95%CI, 1.22-1.89; P<.001. Over the last 20 years, the RCM group showed significant improvement in 1-year survival (adjusted R2=0.95) and 5-year survival (R2=0.88); the HCM group showed enhanced the 5-year survival (R2=0.59), but the 1-year survival remained stable (R2=0.16). ConclusionsBoth RCM and HCM were linked to a less favorable early posttransplant prognosis compared with DCM. However, at the 5-year mark, this unfavorable difference was evident only for RCM. Notably, a substantial temporal enhancement in both early and late mortality was observed for RCM, while for HCM, this improvement was mainly evident in late mortality.Full English text available from:www.revespcardiol.org/en

ECG changes and their prognostic value for the development of sudden cardiac death in HCM patients

Background. Hypertrophic cardiomyopathy (HCM) is a primary myocardial disease characterized by an increase in the left ventricular (LV) wall thickness, which is not explained only by abnormal loading conditions. The development of sudden cardiac death (SCD) is one of the most dangerous complications of HCM. The aim of our study was to evaluate the prognostic value of electrocardiography (ECG) changes for the development of SCD in the Ukrainian population of patients with HCM. Materials and methods. We evaluated 350 patients with HCM who were examined in the City Clinical Hospital 8 (Kharkiv, Ukraine) from 2006 to 2021. The diagnosis of HCM was made in accordance with the current guidelines of the European Society of Cardiology. Clinical and instrumental data of patients with HCM were analyzed retrospectively, including general clinical data, 12-lead ECG, echocardiography, Holter monitoring, calculation of the 5-year risk of SCD according to the HCM Risk-SCD tool. The endpoint of the study was SCD and its surrogates, including adequate performance of the implantable cardioverter-defibrillator and the state after a successful resuscitation. Results. Follow-up was 5.0 (1.5–9.5) years. During this time, 16 patients (4.6 %) reached the endpoint, which was 0.9 %/year. According to the HCM Risk-SCD, 5 (31.3 %) patients in this group were at a high (≥ 6 %) and 3 (18.8 %) were at an intermediate risk of SCD (≥ 4 and &lt; 6 %). A multivariable Cox regression analysis has shown that independent predictors of SCD are syncope (hazard ratio (HR) 3.81, 95% confidence interval (CI) 1.11–13.12, p = 0.034), systolic blood pressure (HR 0.97, 95% CI 0.94–0.99, p = 0.026), ECG with “infarction-like” ST elevation (HR 6.81, 95% CI 2.09–22.16, p = 0.001) and PQ interval value (HR 1.03, 95% CI 1.01–1.05, p = 0.002), Harrell’s C-index (HR 0.84, 95% CI 0.73–0.95, p &lt; 0.0001). Conclusions. The proposed HCM Risk-SCD tool was not effective enough in predicting SCD in our study. In order to improve the risk stratification, ECG changes (“infarction-like” ST elevation and PQ interval prolongation) and systolic blood pressure lowering can be used, which were found to be independent predictors of SCD risk.

Cancer Treatment–Related Complications in Patients With Hypertrophic Cardiomyopathy

ObjectiveTo describe the potential clinical cardiotoxicity of oncological treatments in a cohort of consecutive patients with hypertrophic cardiomyopathy (HCM), systematically followed-up at two national referral centers for HCM. Cardiotoxicity relates to the direct effects of cancer-related treatment on heart function, commonly presenting as left ventricular contractile dysfunction. However, limited data are available regarding cardiotoxic effects on HCM as most studies have not specifically analyzed the effects of oncological treatment in HCM populations. This gap in knowledge may lead to unjustified restriction of HCM patients from receiving curative cancer treatments. MethodsWe retrospectively analyzed clinical and instrumental data of all consecutive HCM patients who underwent oncological treatment between January 2000 and December 2020 collected in a centralized database. ResultsOf 3256 HCM patients, 121 (3.7%) had cancer; 110 (90.9%) underwent oncological surgery, 45 (37.2%) received chemotherapy, and 22 (18.2%) received chest radiation therapy (cRT). After a median follow-up of 5.2 years (Q1-Q3: 2-13 years) from oncological diagnosis, 32 patients died. The cumulative survival at 5 years was 79.9%. The cause of death was mainly attributed to the oncological condition, whereas four patients died of sudden cardiac death without receiving previous chemotherapy or cRT. No patient interrupted or reduced the dose of oncological treatment due to cardiac dysfunction. No sustained ventricular tachyarrhythmia was induced by chemotherapy or radiation therapy. ConclusionCancer treatment was well tolerated in HCM patients. In our consecutive series, none died of cardiovascular complications induced by chemotherapy or cRT and they did not require interruption or substantial treatment tapering due to cardiovascular toxic effects. Although a multidisciplinary evaluation is necessary and regimens must be tailored individually, the diagnosis of HCM per se should not be considered a contraindication to receive optimal curative cancer treatment.

Coronary microvascular dysfunction as assessed by multimodal diagnostic imaging in patients with hypertrophic cardiomyopathy is related to the severity of cardiac dysfunction.

Coronary microvascular dysfunction (CMD) plays a major role in hypertrophic cardiomyopathy (HCM) physiopathology but its assessment in clinical practice remains a challenge. Nowadays, innovations in invasive and noninvasive coronary evaluation using multimodal imaging provide options for the diagnosis of CMD. The objective of the present study was to investigate if new multimodal imaging diagnosis of CMD could detect HCM patients with more impaired cardiac function by left atrioventricular coupling index (LACI). A total of 32 consecutive patients with a confirmed diagnosis of HCM (62 ± 13 years, 62% men) were prospectively screened for CMD using a multimodal imaging method. LACI was assessed by cardiovascular magnetic resonance imaging. Fifteen (47%) patients had CMD by multimodal imagingmethod. Patients with CMD presented a significantly higher LACI (48.5 ± 25.4 vs. 32.5 ± 10.6, p = .03). A multivariate logistic regression analysis demonstrated that CMD was independently associated with LACI (OR = 1.069, 95% CI 1.00-1.135, p = .03). Multimodal imaging diagnosis of CMD is applicable to HCM patients and is associated with more impaired cardiac function.

The use of cardiac magnetic resonance in hypertrophic cardiomyopathy over the past 10 years [2013-2023]: a CiteSpace-based bibliometric analysis.

Hypertrophic cardiomyopathy (HCM) is a common genetic cardiac disorder characterized by the hypertrophy of a segment of the myocardium. Cardiac magnetic resonance (CMR) has been widely used in the assessment of HCM. However, no bibliometric assessment has been conducted on the progress of research in this field. This study thus aimed to examine the current state of research into the application of CMR in HCM and the hotspots and trends that have emerged in this field over the past decade. A systematic search was conducted on the Web of Science regarding CMR in the assessment of HCM. The databases were searched from 2013 to June 2023. CiteSpace is an application that can be used to characterize the underlying knowledge of the scientific literature in a given field. We used it to analyze the relationship between publication year and country, institution, journal, author, bibliography, and keywords in the field of CMR for the assessment of HCM. A total of 1,427 articles were included in the analysis. In the assessment of HCM, the findings from the past decade have consistently demonstrated a progressive rise in the quantity of articles pertaining to CMR. The country with the largest number of publications was the United States [310], and the institution with the greatest number of publications was the University College London [45]. The analysis of keywords revealed the diagnosis and management of HCM with CMR to be the current research focus and emerging trend within this academic field. This study used a novel approach to visually analyze the use of CMR in HCM assessment. The current research trajectory in CMR consists of the diagnosis and management of patients with HCM. Although most studies confirmed the indispensability of CMR in the assessment of HCM, larger-scale cohorts are still needed to more comprehensively evaluate the role of CMR in the differential diagnosis, pre- and post-treatment assessment, and long-term management of patients with HCM.

THE DIAGNOSTIC VALUE OF CARDIAC MRI IN DETERMINING HYPERTROPHIC CARDIOMYOPATHY PHENOTYPES Using T1 and T2 mapping and late gadolinium enhancement to accurately diagnose hypertrophic cardiomyopathy

Objective: Hypertrophic cardiomyopathy (HCM) is a genetic disorder characterized by thickening of the heart muscle and may have serious consequences. Diversity in the distribution and degree of hypertrophy has led to the classification of HCM types. Cardiac MR (CMR) imaging is a non-invasive tool that maintains accurate and detailed data about cardiac functions and structure. The aim of the study was to observe and compare the CMR characteristics of the three HCM morphologic types (asymmetric, concentric, and apical). Materials and Methods: 56 patients (female/male: 29/58, mean age 46.31±15.12, body surface area (BSA) 1.88±0.19 m2) who were referred for HCM diagnosis or follow-up between January 2020- January 2023 were included in this single-center retrospective study. The imaging procedure was conducted using a 1.5 T device (Aera, Siemens Medical Systems, Erlangen, Germany). Cardiac volume and functions were determined quantitatively. The location and amount of late gadolinium enhancement (LGE) was evaluated qualitatively. The statistical analyses were performed using SPSS version 25.0. A P value under 0.05 was considered statistically significant. Results: LGE revealed myocardial fibrosis in apical HCM (ApHCM), a higher prevalence than in asymmetric and concentric HCM. ApHCM and asymmetric HCM patients widely presented midmyocardial fibrosis, where most concentric HCM patients had patchy involvement. The mean native myocardial T1 values for individuals with concentric HCM was found to be higher compared to those with asymmetric and ApHCM and the healthy participants. Conclusion: CMR imaging enables the multiparametric evaluation of HCM through the utilization of native T1 and T2 mapping techniques, as well as LGE. Both T1 and T2 values have the potential to be used in conjunction with LGE to identify regions of myocardial fibrosis.

Algorithm for Diagnosis of Patients with Ischemic Heart Disease Depending on the Presence of Significant Coronary Artery Lesions

The aim. To analyze the structure of ischemic heart disease and the prevalence of myocardial ischemia with no ob-structive coronary arteries among patients who underwent elective coronary angiography.&#x0D; Materials and methods. We examined 1,200 patients with a clinical diagnosis of ischemic heart disease. After coro-nary angiography all the patients with non-stenotic coronary arteries underwent hyperventilation challenge test to ex-clude vasospastic angina and echocardiographic study with intravenous administration of dipyridamole to assess the index of coronary reserve and longitudinal strain.&#x0D; Results. The mean age of the study participants was 59.1 ± 4.2 years. The number of male and female subjects was comparable, amounting to 493 (48.8%) and 517 (51.2%), respectively. Stenotic coronary arteries were detected in 699 patients (74.1%). The number of women without hemodynamically significant lesions was twice as large than that of men (210 [67.5%] vs. 101 [32.5%]). Among the examined patients with non-stenotic atherosclerosis of the coronary arteries, 241 patients (77.4%) were diagnosed with coronary microvascular dysfunction, 19 (6.1%) with vasospasm of the coronary arteries, and 2 patients (0.6%) were diagnosed with a combination of vasospastic and microvascular angina. In 36 (73.5%) of 49 patients, a segmental decrease in longitudinal strain of the apex/individual apical segments of the left ventricle was found. In patients without obvious micro- and macrovascular pathology, the interventricular septum was significant enlarged. In 9 (18.4%) of 49 patients, a diagnosis of hypertrophic cardiomyopathy was established.&#x0D; Conclusion. Patients with ischemia with no obstructive coronary arteries require careful examination and compari-son of clinical signs with the results of objective tests. Understanding the prevalence and mechanisms of the problem is a key to improving the diagnosis and treatment of cardiovascular complications in this group.

Gene-Specific Discriminative Echocardiogram Findings in Hypertrophic Cardiomyopathy Determined Using Artificial Intelligence: A Pilot Study

Hypertrophic cardiomyopathy (HCM) is among the most common forms of cardiomyopathies, with a prevalence of 1:200 to 1:500 people. HCM is caused by variants in genes encoding cardiac sarcomeric proteins, of which a majority reside in MYH7, MYBPC3, and TNNT2. Up to 40% of the HCM cases do not have any known HCM variant. Genotype–phenotype associations in HCM remain incompletely understood. This study involved two visits of 46 adult patients with a confirmed diagnosis of HCM. In total, 174 genes were analyzed on the Next-Generation Sequencing platform, and transthoracic echocardiography was performed. Gene-specific discriminative echocardiogram findings were identified using the computer vision library Fast AI. This was accomplished with the generation of deep learning models for the classification of ultrasonic images based on the underlying genotype and a later analysis of the most decisive image regions. Gene-specific echocardiogram findings were identified: for variants in the MYH7 gene (vs. variant not detected), the most discriminative structures were the septum, left ventricular outflow tract (LVOT) segment, anterior wall, apex, right ventricle, and mitral apparatus; for variants in MYBPC3 gene (vs. variant not detected) these were the septum, left ventricle, and left ventricle/chamber; while for variants in the TNNT2 gene (vs. variant not detected), the most discriminative structures were the septum and right ventricle.

Sudden death in young South European population: a cross-sectional study of postmortem cases

To describe the annual incidence and the leading causes of sudden non-cardiac and cardiac death (SCD) in children and young adult Portuguese population. We retrospectively reviewed autopsy of sudden unexpected deaths reports from the Portuguese National Institute of Legal Medicine and Forensic Sciences’ database, between 2012 and 2016, for the central region of Portugal, Azores and Madeira (ages 1–40: 26% of the total population). During a 5-year period, 159 SD were identified, corresponding to an annual incidence of 2,4 (95%confidence interval, 1,5–3,6) per 100.000 people-years. Victims had a mean age of 32 ± 7 years-old, and 72,3% were male. There were 70,4% cardiac, 16,4% respiratory and 7,5% neurologic causes of SD. The most frequent cardiac anatomopathological diagnosis was atherosclerotic coronary artery disease (CAD) (33,0%). There were 15,2% victims with left ventricular hypertrophy, with a diagnosis of hypertrophic cardiomyopathy only possible in 2,7%. The prevalence of cardiac pathological findings of uncertain significance was 30,4%. In conclusion, the annual incidence of SD was low. Atherosclerotic CAD was diagnosed in 33,0% victims, suggesting the need to intensify primary prevention measures in the young. The high prevalence of pathological findings of uncertain significance emphasizes the importance of molecular autopsy and screening of first-degree relatives.

[Management of cardiomyopathies : New ESC guidelines 2023].

The group of cardiomyopathies has received increasing attention over the last few years after some of the causes were identified and they could be characterized more exactly using modern imaging methods. New definitions and classification schemes were regularly provided by national and international cardiac societies. The new guidelines of the European Society of Cardiology (ESC) from 2023 on the management of cardiomyopathies are the first guidelines that comprehensively address all cardiomyopathies in one document. As these arenew guidelines most of the recommendations are also new. An exception is the section on hypertrophic cardiomyopathy (HCM), which provides atargeted update of the 2014 ESC guidelines on the diagnosis and treatment of HCM. The main aim of the guidelines is to provide clear guidance for the diagnosis of cardiomyopathies, to highlight general assessment and management problems and to point out the relevant scientific evidence for the recommendations to the readership. Due to the magnitude detailed descriptions and recommendations cannot be provided for each individual cardiomyopathy phenotype; however, reference is made to the relevant literature.

A systematic review and meta-analysis of sex differences in clinical outcomes of hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is recognized as the most prevalent form of genetic cardiomyopathy, and recent investigations have shed light on the existence of sex disparities in terms of clinical presentation, disease progression, and outcomes. This study aimed to systematically review the literature and perform a meta-analysis to comprehensively compare the clinical outcomes between female and male patients with HCM. A thorough search was conducted in databases including PubMed, Embase, Cochrane Library, and Web of Science, encompassing literature from inception until June 2023. The primary endpoints examined were: (1) all-cause mortality; (2) an arrhythmic endpoint comprising sudden cardiac death (SCD), sustained ventricular tachycardia, ventricular fibrillation, or aborted SCD; and (3) a composite endpoint incorporating either (1) or (2), in addition to hospitalization for heart failure or cardiac transplantation. Pooled estimates were derived using a random-effects meta-analysis model. The analysis encompassed a total of 29 observational studies, involving 44,677 patients diagnosed with HCM, of which 16,807 were female. Baseline characteristics revealed that the female group exhibited an advanced age [55.66 ± 0.04 years vs. 50.38 ± 0.03 years, pooled mean difference (MD) = 0.31, 95% CI: 0.22-0.40, p = 0.000, I2 = 88.89%], a higher proportion of New York Heart Association class III/IV patients [pooled odds ratio (OR) = 1.94, 95% CI: 1.55-2.43, p = 0.000, I2 = 85.92%], and a greater prevalence of left ventricular outflow tract gradient greater than or equal to 30 mmHg (pooled OR = 1.48, 95% CI: 1.27-1.73, p = 0.000, I2 = 68.88%) compared to the male group. The female group were more likely to have a positive genetic test (pooled OR = 1.27, 95% CI: 1.08-1.48, p = 0.000, I2 = 42.74%) and to carry the myosin heavy chain beta 7 mutation (pooled OR = 1.26, 95% CI: 1.04-1.54, p = 0.020, I2 = 0.00%) compared to the male group. Female sex exhibited a significant association with increased risks of all-cause mortality (pooled OR = 1.62, 95% CI: 1.38-1.89, p = 0.000, I2 = 72.78%) and the composite endpoint (pooled OR = 1.47, 95% CI: 1.20-1.79, p = 0.000, I2 = 84.96%), while no substantial difference was observed in the arrhythmic endpoint (pooled OR = 1.08, 95% CI: 0.87-1.34, p = 0.490, I2 = 55.48%). The present findings suggest that female patients with HCM tend to experience poorer clinical outcomes. It is imperative to critically reevaluate disease definitions and enhance awareness to mitigate delays in the diagnosis and treatment of HCM in women, thereby fostering equitable healthcare practices. https://www.crd.york.ac.uk/, PROSPERO (CRD42023431881).

Prognosis after heart transplant in patients with hypertrophic and restrictive cardiomyopathy. A nationwide registry analysis

Introduction and objectivesPosttransplant outcomes among recipients with a diagnosis of hypertrophic cardiomyopathy (HCM) or restrictive cardiomyopathy (RCM) remain controversial. MethodsRetrospective analysis of a nationwide registry of first-time recipients undergoing isolated heart transplant between 1984 and 2021. One-year and 5-year mortality in recipients with HCM and RCM were compared with those with dilated cardiomyopathy (DCM). ResultsWe included 3703 patients (3112 DCM; 331 HCM; 260 RCM) with a median follow-up of 5.0 [3.1-5.0] years. Compared with DCM, the adjusted 1-year mortality risk was: HCM: HR, 1.38; 95%CI, 1.07-1.78; P=.01, RCM: HR, 1.48; 95%CI, 1.14-1.93; P=.003. The adjusted 5-year mortality risk was: HCM: HR, 1.17; 95%CI, 0.93-1.47; P=.18; RCM: HR, 1.52; 95%CI, 1.22-1.89; P<.001. Over the last 20 years, the RCM group showed significant improvement in 1-year survival (adjusted R2=0.95) and 5-year survival (R2=0.88); the HCM group showed enhanced the 5-year survival (R2=0.59), but the 1-year survival remained stable (R2=0.16). ConclusionsBoth RCM and HCM were linked to a less favorable early posttransplant prognosis compared with DCM. However, at the 5-year mark, this unfavorable difference was evident only for RCM. Notably, a substantial temporal enhancement in both early and late mortality was observed for RCM, while for HCM, this improvement was mainly evident in late mortality.

Prognostic value of left ventricular hypertrophy in patients with myocardial fibrosis by ECV mapping on cardiac MRI

Abstract Background Cardiovascular magnetic resonance (CMR) can noninvasively identify myocardial fibrosis using extracellular volume (ECV) mapping. In patients with elevated ECV, and without hypertrophic cardiomyopathy (HCM) or cardiac amyloidosis, the prognostic significant of mild-to-moderate left ventricular hypertrophy (LVH) has not been well established. Purpose To determine if the presence of mild to moderate LVH has an impact on major adverse cardiovascular outcomes (MACE) in patients with elevated ECV without HCM or cardiac amyloidosis. Methods This was a retrospective cohort study assessing a group of patients referred for CMR between July 2019 and January 2023 to Mount Sinai Morningside. Patients with ECV&amp;gt;30% and left ventricular wall thickness &amp;lt;1.6 cm (to exclude patients with the possible diagnosis of HCM or cardiac amyloidosis) were considered for inclusion. Those with an established diagnosis of HCM or cardiac amyloidosis were also excluded. The LVH group comprised of patients with mild-to-moderate LVH, defined as a maximum wall thickness of 1.2-1.5 cm. The control group included patients without LVH (wall thickness &amp;lt;1.2 cm). Patients were further stratified by ECV, using the median value for our sample, as "high ECV" (≥35%) or "low ECV" (&amp;lt;35%). The outcome of interest was time-to-first MACE (all-cause death, or incident acute coronary syndrome, acute heart failure, or arrhythmia). Time-to-first MACE within 1 year was compared among groups using unadjusted Kaplan-Meier curves. Additional Cox regression analyses were performed to adjust for significant univariate analysis, including hypertension, hyperlipidemia, diabetes mellitus, use of beta-blocker, use of diuretic, and category of glomerular filtration rate. The results are presented as hazard ratios and 95% confidence intervals. All analyses were performed in SAS Enterprise using α&amp;lt;0.05. Results Out of the cohort, we identified 186 patients that met our selection criteria. The mean age was 61.1 ± 15.5 years, and 58.1% of patients were female. The median follow-up was 175 days in the control group and 115 days in the LVH group. There were 61 MACE (32.8%) in our sample. After adjusting for covariates, mild-to-moderate LVH was associated with 2.2 times the risk of MACE (95%CI 1.3 to 3.8; p=0.0047) at 1 year, compared to patients without LVH. A higher ECV (≥35%) was not significantly associated with worse outcomes within each study arm (p=0.3450). Kaplan Meier survival curves for patients with and without LVH are shown in Figure 1 (p=0.0002). Conclusions In patients with evidence of elevated ECV without underlying cardiac amyloidosis or hypertrophic cardiomyopathy, mild-to-moderate LVH is associated with 2.2 times the risk of MACE compared to normal left ventricular wall thickness.Figure 1