Cardiomyopathy

Background: \- Researchers are interested in studying individuals who have known or suspected metabolic, inflammatory or genetic diseases that may put them at a high risk for heart diseases or diseases of their blood vessels. Depending on the condition being studied, both affected and nonaffected individuals may be asked to provide blood and other samples and may undergo tests to evaluate the heart, blood vessels and lung function. The testing is tailored to the individual and/or condition being studied. Nonaffected individuals may include relatives of affected individuals and healthy nonrelated volunteers. Objectives: \- To study individuals who have or are at risk for cardiovascular diseases, and in some cases their unaffected relatives and healthy volunteers. Eligibility: \- Individuals between 1 and 100 years of age. Participants may be healthy volunteers, individuals with cardiovascular diseases, or unaffected relatives of individuals with cardiovascular diseases. Design: * Participants will have some or all of the following tests, as directed by the study researchers: * Photography of the face and full body * Body measurements * Radiography, including chest or limb x-rays * Metabolic stress testing to study heart and muscle function * Echocardiography to study heart function * Magnetic resonance imaging (MRI) studies, including cardiovascular MRI, angiography, and contrast MRI, to study heart function and performance * Computed tomography (CT) angiogram to obtain images of the heart and lungs * Positron emission tomography (PET) imaging to study possible fat infiltration of the heart * Six-minute walk test to study heart, lung, and muscle function and performance * Vascular ultrasound to study blood vessel walls * Blood, tissue, and other specimens will be collected for research and testing, and will be taken either as part of the clinical study or during surgical procedures. * Follow-up studies may be performed under separate research protocols.

The purpose of this study is to assess the real-world effectiveness and safety of mavacamten in adults diagnosed with symptomatic obstructive hypertrophic cardiomyopathy (HOCM) receiving cibenzoline in Japan

Dystrophin associated heart dysfunction is a leading cause of death in patients with Duchenne and Becker Muscular dystrophy (DMD/BMD) and Duchenne and Becker muscular dystrophy carriers (MDC); however, the evolution of heart dysfunction is not well-understood. The central objectives of this proposal are to elucidate this evolution of heart dysfunction and identify measures from cardiac MRI images that can predict death or significant heart disease in patients with DMD/BMD/MDC. This study will create a large clinical and cardiac MRI registry of dystrophin associated heart dysfunction, will utilize advanced image analysis techniques, including deep learning neural networks, to comprehensively evaluate every patient, and will create a risk toolkit accessible to clinicians around the world; this proposal has the potential to improve the quality of life in patients with dystrophin associated heart dysfunction by allowing for earlier and more intensive therapy in patients with severe disease and by identifying surrogate outcome measures for use in therapeutic trials.

This study will investigate the bioequivalence between two formulations of HRS-1893 tablets. Safety and tolerability will also be assessed.

Characteristics and clinical course of disease In participants with cardiomyopathy associated with Friedreich Ataxia (CLARITY-FA)

This single-center, prospective, observational cohort study aims to evaluate the clinical application value of multi-modal cardiovascular magnetic resonance (CMR) imaging in patients with cardiovascular diseases (CVD). While traditional imaging methods have limitations in fully evaluating myocardial tissue characteristics, multi-modal CMR offers a comprehensive, non-invasive "one-stop" assessment. It can simultaneously evaluate heart structure, function, tissue features (such as fibrosis and edema), and hemodynamics. The study plans to enroll patients with suspected or confirmed CVD. Participants will undergo a comprehensive multi-modal CMR scan (including Cine, T1/T2 mapping, Late Gadolinium Enhancement, and 4D flow sequences) as part of their evaluation. By tracking clinical outcomes, the study seeks to establish a standardized imaging assessment system to improve the early detection, accurate diagnosis, risk stratification, and prognostic prediction for various types of cardiovascular diseases.

The purpose of this study is to determine if TTR gene carriers have early signs of a type of heart disease called amyloidosis using a new radiotracer dye (iodine-124 evuzamitide, I-124E). Participants will undergo a screening that includes a medical history review and completion of quality-of-life surveys. Once screening is complete, participants will undergo an imaging test called a positron emission tomography (PET) scan combined with computed tomography (PET/CT) to make images of the body. The new radiotracer dye (I-124E, a radioactive contrast) will be used during the PET/CT to make amyloidosis visible in the heart and body.

To quantify genetic variants in a focused DCM gene panel among AF-induced cardiomyopathy (AIC) and positive/negative controls

The purpose of this study is to deploy and evaluate informational AI-Echo algorithms that assist echo clinicians in interpreting core echocardiographic parameters (e.g., LV/RV size and function, valvular disease severity) and stratifying disease progression risk. The primary outcome is clinician usability, interpretive consistency, and workflow integration. Second, we will conduct a pragmatic, stepped-wedge clinical trial with multiple arms evaluating diagnostic AI-Echo algorithms designed to identify specific cardiovascular diseases- such as genetic cardiomyopathy, ischemic heart disease, and cardiac amyloidosis-and assess whether AI deployment increases diagnostic testing and shortens time to diagnosis. Trials will be conducted using EHR-based notification systems with cluster-level randomization.

The goal of this observational study is to investigate whether the type, location, and extent of pathogenic variants in the DMD gene are associated with cardiac dysfunction in male children, adolescents, and young adults with dystrophinopathies. The study also evaluates whether cardiac biomarkers and electrocardiographic findings can facilitate the early identification of cardiac involvement. Participants will undergo electrocardiography, blood sampling for cardiac biomarker assessment, and transthoracic echocardiography, with cardiac dysfunction evaluated using ejection fraction (EF) and global longitudinal strain (GLS).

This study aims to create a registry of patients with hypertrophic cardiomyopathy, a condition characterized by excessive thickening of the heart muscle. This disease can sometimes lead to serious complications. Currently, the prognosis of these patients is mainly determined by clinical and echocardiographic parameters. Detection of myocardial fibrosis using cardiac MRI enables better risk stratification for these patients.

The purpose of this study is to assess the safety and feasibility of the investigational catheter for mapping the atrial and ventricular regions of the heart.

This study examines TRPC6 in predicting and preventing chemotherapy related cardiac toxicity and heart failure in patients with breast cancer. Cardiac toxicity, changes in heart function is a well-recognized complication of certain cancer related therapies. Understanding these changes may allow early intervention against therapy-related cardiac toxicity and also identify novel therapeutic targets to protect patient long-term cardiac health. Studying samples of blood from patients with breast cancer in the laboratory may help doctors learn more about changes that occur in deoxyribonucleic acid (DNA), identify biomarkers related to cardiac toxicity, and prevent the development of therapy-induced cardiac toxicity in patients receiving chemotherapy.

This randomized pilot phase I trial studies the side effects of donor bone marrow derived mesenchymal stem cells in controlling heart failure in patients with cardiomyopathy caused by anthracyclines. Donor bone marrow derived mesenchymal stem cells may help to control symptoms of heart failure and improve heart function.

Cardiac amyloidosis is a major cause of early treatment-related death and poor overall survival in individuals with systemic light chain amyloidosis. This project will develop a novel approach to visualize cardiac amyloid deposits using advanced imaging methods. The long-term goal of this work is to identify the mechanisms of cardiac dysfunction, in order to guide the development of novel life-saving treatments.

This prospective, multicenter, open-label, randomized comparative effectiveness trial, titled CARVTOP-ICD, evaluates the impact of carvedilol versus metoprolol succinate in patients with heart failure with reduced ejection fraction (HFrEF) and an implantable cardioverter defibrillator (ICD). The study will enroll 2,000 participants across 100 U.S. sites and includes an 18-month feasibility phase with 100 participants from 15 sites. Eligible participants must be currently treated with metoprolol succinate and willing to switch to carvedilol, with randomization in a 1:1 ratio. Participants will be followed for up to 3 years, with regular assessments including ICD interrogations, medication adherence, healthcare utilization, and quality of life surveys. The primary endpoint is the first occurrence of any ICD therapy (appropriate or inappropriate), cardiovascular (CV) hospitalization, or CV death. Secondary endpoints include ICD shock burden, healthcare utilization, and patient-reported quality of life. The trial aims to provide high-quality comparative data to address clinical equipoise surrounding the two commonly used beta-blockers in HFrEF management.

We are studying the genetics of human cardiovascular and neuromuscular disease. There are many different genetic regions that have been associated with the development of cardiomyopathy. An equal number of genetic regions have been associated with muscular dystrophy and there is overlap because some of the identical genes, when mutated, produce both cardiomyopathy and muscular dystrophy. We are working to identify genes and gene mutations associated with cardiomyopathy, arrhythmias and muscular dystrophy. We propose to screen these samples for mutations in genes known to be involved in these disorders.

The goal of this clinical trial is to learn if community-based exercise training can benefit patients aged 18 to 85 with diminished cardiovascular and pulmonary function. The main aim of this study is: • Establish a community or home-based fitness training program for patients with cardiopulmonary insufficiency to improve adherence, safety, and efficacy while alleviating the burden on both patients and society. Researchers will compare community-based exercise training to non-exercise training to see if community-based exercise training works to improve cardiovascular and pulmonary function. Participants will: * Engage in community or home exercise training for 40-60 minutes, five times weekly, during a duration of eight weeks. Exercise modalities are primarily determined by the patients' individual preferences and habits, such as brisk walking, running, swimming, cycling, and hiking. * Adjust the exercise intensity according to their cardiopulmonary exercise test and the person's perceived exertion level. * Utilize fitness bracelets or watches to document statistics during workouts and submit them to the experimenter weekly, covering the five days of exercise within that week. * refrain from making any dietary modifications throughout the trial.

This observational study is being done to learn more about heart attack recovery in patients supported with the Impella 5.5 left ventricular assist device (LVAD) as part of their standard of care. There are three stages in this study: screening, treatment and post treatment. There will be two phases of enrollment: First phase will enroll 10 patients; second phase will enroll an additional 40 patients. Approximately 50 participants will take part in the study at Columbia University Irving Medical Center. Participation in this research is expected to last approximately 14 months. This time estimate includes a screening period for about 1- 3 days, treatment period of 40 days and post treatment follow-up period for 1 year. Data will be collected through 1- year after heart transplant. Clinical data (medical history, vital signs, laboratory assessments) from medical records, to perform functional testing, and to obtain blood and discarded heart tissue fromfor the purpose of this research study. Participants will be asked to share their records for echocardiography, right heart catheterization, laboratory data and clinical information. Participants are required to complete an assessment a 6-minute walk, and hand grip strength test.

This study explores the effects of combined aerobic and resistance exercise in patients with non-ischemic dilated cardiomyopathy (NIDCM). In a six-week randomized clinical trial with 66 participants, both exercise groups-combined and aerobic-only-showed significant improvements in exercise capacity, functional independence, dyspnea, and blood pressure. However, no significant difference was found between the two groups. The study concludes that both exercise approaches are effective, but longer studies are needed to determine if combined training offers added benefits.

This study evaluates the impact of large language models (LLMs) versus traditional decision support tools on clinical decision-making in cardiology. General cardiologists will be randomized to manage real patient cases from a cardiovascular genetic cardiomyopathy clinic, with or without AI assistance. Each case will be assessed by two cardiologists, and their responses will be graded by blinded subspecialty experts using a standardized evaluation rubric.

"Background Information Cardiomyopathy is one of the leading causes of heart failure. In cases where cardiomyopathy does not respond to guideline-directed medical therapy for heart failure, the disease may progress to a stage where heart transplantation is the only viable treatment option. According to the 2022 Korean Organ Transplant Registry (KOTRY) report, cardiomyopathy accounted for approximately 65% of heart transplant indications in Korea, making it one of the most challenging unresolved issues in modern cardiology. Furthermore, cardiomyopathy is associated with a high risk of sudden cardiac death due to ventricular fibrillation or ventricular tachycardi and implantable cardioverter-defibrillators are often recommended as a preventive measure. Given that sudden cardiac death frequently occurs in young and middle-aged individuals, it is a major public health concern in developed countries such as North America and Western/Northern Europe, prompting ongoing societal and medical efforts to reduce its burden. The risk of sudden cardiac death imposes a persistent psychological burden on family members of patients with cardiomyopathy. Because sudden death can also occur in children and adolescents, current clinical guidelines recommend early cardiac evaluation and genetic counseling for family members of affected individuals. This study seeks to overcome the current limitations in the genetic diagnosis of cardiomyopathy, including the low diagnostic yield of currently available gene panels. To date, most genetic data on cardiomyopathy have been derived from Western populations. There is a significant lack of population-specific genomic data for East Asians, particularly Koreans, making it difficult to interpret the results of genetic testing in Korean patients. By developing bioinformatics algorithms that comprehensively analyze whole genome sequencing (WGS) data, including single nucleotide variants (SNVs), insertions/deletions (indels), and structural variations, this study aims to generate a reference dataset tailored to the Korean population. This will directly improve the genetic diagnosis of cardiomyopathy in Korean patients. Additionally, by identifying novel pathogenic variants through WGS, this study may elucidate new disease mechanisms underlying cardiomyopathy. These findings could provide a theoretical basis for developing novel diagnostic biomarkers, therapeutic targets, and even gene-based therapies. The present study is part of a multi-phase national research project supported by the Korea Disease Control and Prevention Agency and the Korea National Institute of Health, conducted as a registry cohort titled the ""Korean Cardiomyopathy Cohort (KCC)"". Objectives This study aims to establish a diagnostic research framework to elucidate the genetic architecture of rare inherited cardiomyopathies through comprehensive analysis of whole genome sequencing data, with the goal of identifying novel diagnostic approaches

The goal of this observational study is to learn about the genetic insights of arrhythmya-induced cardiomyopathy and its clinical prognosis. The main questions it aims to answer are: I. Does patients with arrhythmia-induced cardiomyopathy have a greater proportion of genetic mutations compared with other types of cardiomyopathy or general population? II. Have the genetics any prognostic impact in patients with arrhythmia-induced cardiomyopathy?

observational epidemiological study of patients affected by systemic amyloidosis

The goal of the this observational study is to gather clinically available data on patients presenting with a suspicion for arrhythmia-induced cardiomyopathy (AiCM) at the University Hospital Basel.