hcm

This comprehensive review explores the intricate aspects of left ventricular thrombus (LVT), a potential complication in both ischemic and non-ischemic cardiomyopathies. It provides a thorough understanding of left ventricular thrombus, revealing its uncommon incidence in the general population (7 cases per 10,000 patients), predominantly linked to ischemic heart diseases (ICMs) at an 80% prevalence rate. Diagnostic tools, notably transthoracic echocardiography (TTE) and cardiac magnetic resonance imaging (CMR), demonstrate varying sensitivity but remain indispensable in specific clinical contexts related to LVT as non-invasive diagnostic modalities...

Background : Anterior cruciate ligament (ACL) tears account for 40% to 50% of all ligamentous knee injuries. Most patients with ACL ruptures undergo surgical treatment. There is currently no objective, well-documented, repeatable, and standardized nonsurgical method for ACL tear treatment. This study aimed to investigate ACL outcomes in patients who underwent a novel nanosurgery and bioengineering treatment (NSBT) for an ACL tear. Methods : This was a double-blind randomized trial including 44 patients with a history of traumatic knee injury and a confirmed ACL tear...

BACKGROUND: Heart failure (HF), a global health challenge, requires innovative diagnostic and management approaches. The rapid evolution of deep learning (DL) in healthcare necessitates a comprehensive review to evaluate these developments and their potential to enhance HF evaluation, aligning clinical practices with technological advancements. OBJECTIVE: This review aims to systematically explore the contributions of DL technologies in the assessment of HF, focusing on their potential to improve diagnostic accuracy, personalize treatment strategies, and address the impact of comorbidities...

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AIM: The "2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy" provides recommendations to guide clinicians in the management of patients with hypertrophic cardiomyopathy. METHODS: A comprehensive literature search was conducted from September 14, 2022, to November 22, 2022, encompassing studies, reviews, and other evidence on human subjects that were published in English from PubMed, EMBASE, the Cochrane Library, the Agency for Healthcare Research and Quality, and other selected databases relevant to this guideline...

BACKGROUND: Sudden cardiac death (SCD) represents the most severe complication of hypertrophic cardiomyopathy (HCM). The risk stratification of SCD in patients with HCM remains a subject of ongoing debate, and the utility of left atrial (LA) and left ventricular (LV) myocardial strain for risk stratification of also SCD remains uncertain. Through use of feature-tracking cardiac magnetic resonance (FT-CMR), this study aimed to investigate the attenuation of LA and LV strain in HCM and to assess their predictive value in SCD...

No abstract text is available yet for this article.

HHATL, previously implicated in cardiac hypertrophy in the zebrafish model, has emerged as a prioritized HCM risk gene. We identified six rare mutations in HHATL, present in 6.94% of nonsarcomeric HCM patients (5/72). Moreover, a decrease of HHATL in the heart tissue from HCM patients and cardiac hypertrophy mouse model using transverse aortic constriction was observed. Despite this, the precise pathogenic mechanisms underlying HHATL-associated cardiac hypertrophy remain elusive. In this study, we observed that HHATL downregulation in H9C2 cells resulted in elevated expression of hypertrophic markers and reactive oxygen species (ROS), culminating in cardiac hypertrophy and mitochondrial dysfunction...

AIM: The "2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy" provides recommendations to guide clinicians in the management of patients with hypertrophic cardiomyopathy. METHODS: A comprehensive literature search was conducted from September 14, 2022, to November 22, 2022, encompassing studies, reviews, and other evidence on human subjects that were published in English from PubMed, EMBASE, the Cochrane Library, the Agency for Healthcare Research and Quality, and other selected databases relevant to this guideline...

BACKGROUND: Sarcomeric hypertrophic cardiomyopathy (HCM) must be differentiated from phenotypically similar conditions because clinical management and prognosis may greatly differ. Patients with unexplained left ventricular hypertrophy require an early, confirmed genetic diagnosis through diagnostic or predictive genetic testing. We tested the feasibility and practicality of the application of a 17-gene next-generation sequencing (NGS) panel to detect the most common genetic causes of HCM and HCM phenocopies, including treatable phenocopies, and report detection rates...

BACKGROUND: Myocardial fibrosis is a key pathological factor for the occurrence of ventricular arrhythmias in hypertrophic obstructive cardiomyopathy (HOCM). CASE SUMMARY: This case series reports on two patients diagnosed with HOCM who underwent 18 F-fibroblast activation protein inhibitor (FAPI) positron-emission tomography/computed tomography imaging and Morrow myotomy procedure. The collected myocardial tissue was examined histopathologically. Both patients exhibited intense and heterogeneous 18 F-FAPI uptake in the septum, with significant number of activated fibroblasts...

Radiomics extracts hundreds of features from medical images to quantitively characterize a region of interest (ROI). When applying radiomics, imbalanced or small dataset issues are commonly addressed using under or over-sampling, the latter being applied directly to the extracted features. Aim of this study is to propose a novel balancing and data augmentation technique by applying perturbations (erosion, dilation, contour randomization) to the ROI in cardiac computed tomography images. From the perturbed ROIs, radiomic features are extracted, thus creating additional samples...

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is believed to have low overall mortality rate, that could be influenced by gender, particularly among probands. We aimed to evaluate the survival rates and possible gender differences in a homogeneous cohort of HCM proband patients, referred for genetic testing, from the same geographical area, without differences in medical care access nor clinical referral pathways. METHODS: we compared the mortality rates of a cohort of consecutive HCM probands referred for genetic testing (2000-2022), from a Spanish region (xxx1) with a centralized genetic testing pathway, with its control reference population by Ederer II method...

The data on myocardial perfusion of the percutaneous intramyocardial septal radiofrequency ablation (PIMSRA) for obstructive hypertrophic cardiomyopathy (HOCM) are still lacking, although PIMSRA have been proved to be of great safety and efficacy. The aim of this study was to quantitatively analyze the changes in myocardial perfusion after PIMSRA using myocardial contrast echocardiography (MCE). 27 HOCM patients treated with PIMSRA were retrospectively analyzed, and their echocardiographic parameters and perfusion parameters of MCE were collected before and 12 months after PIMSRA...

Hypertrophic cardiomyopathy is one of the most common forms of genetic cardiomyopathy. Mavacamten is a first-in-class myosin modulator that was identified via activity screening on the wild type, and it is FDA-approved for the treatment of obstructive hypertrophic cardiomyopathy (HCM). The drug selectively binds to the cardiac β-myosin, inhibiting myosin function to decrease cardiac contractility. Though the drug is thought to affect multiple steps of the myosin cross-bridge cycle, its detailed mechanism of action is still under investigation...

Though pediatric cardiomyopathy is rare in children, there is significant associated morbidity and mortality. Etiology varies from inborn errors of metabolism to familial genetic mutations and myocyte injury. Major classes include dilated, hypertrophic, restrictive, and non-compaction. Diagnosis generally involves a combination of clinical history and echocardiography. The use of cross-sectional imaging is gaining popularity. Management varies between subtype and may involve a combination of medical and surgical interventions depending on clinical status...

A challenge in accurately identifying and classifying left ventricular hypertrophy (LVH) is distinguishing it from hypertrophic cardiomyopathy (HCM) and Fabry disease. The reliance on imaging techniques often requires the expertise of multiple specialists, including cardiologists, radiologists, and geneticists. This variability in the interpretation and classification of LVH leads to inconsistent diagnoses. LVH, HCM, and Fabry cardiomyopathy can be differentiated using T1 mapping on cardiac magnetic resonance imaging (MRI)...

BACKGROUND: Cardiovascular magnetic resonance (CMR) extracellular volume (ECV) allows non-invasive detection of myocardial interstitial fibrosis, which may be related to diastolic dysfunction and left atrial (LA) remodeling in hypertrophic cardiomyopathy (HCM). While the prognostic role of LGE is well-established, interstitial fibrosis and LA dysfunction are emerging novel markers in HCM. This study aimed to explore the interaction between interstitial fibrosis by ECV, LA morpho-functional parameters and adverse clinical outcomes in selected low-risk patients with HCM...

A 45-years old woman presented for dyspnea and cardiac chest pain. ECG showed deep T-wave inversion while CMR showed normal ejection fraction, hypertrophy and systolic obliteration of the apex suggesting apical HCM. Myocardial oedema was noted at the apex. Complete regression of hypertrophy and myocardial edema was observed after 2 months, and a final diagnosis of subacute Takotsubo was made.

COQ7 pathogenetic variants cause primary CoQ10 deficiency and a clinical phenotype of encephalopathy, peripheral neuropathy, or multisystemic disorder. Early diagnosis is essential for promptly starting CoQ10 supplementation. Here, we report novel compound heterozygous variants in the COQ7 gene responsible for a prenatal onset (20 weeks of gestation) of hypertrophic cardiomyopathy and intestinal dysmotility in a Bangladesh consanguineous family with two affected siblings. The main clinical findings were dysmorphisms, recurrent intestinal occlusions that required ileostomy, left ventricular non-compaction cardiomyopathy, ascending aorta dilation, arterial hypertension, renal dysfunction, diffuse skin desquamation, axial hypotonia, neurodevelopmental delay, and growth retardation...