2,760 results match your criteria: "Cardiomyopathy Restrictive"
Association between cathepsins and cardiomyopathy: A Mendelian randomization study.
Medicine (Baltimore)
December 2024
Department of Cardiology, Affiliated Kunshan Hospital of Jiangsu University, Kunshan, Jiangsu, China.
Research suggests that cathepsins, due to their extensive mechanisms of action, may play a crucial role in cardiomyopathies. However, further studies are necessary to establish causality. This study aims to investigate the causal relationship between cathepsins and various types of cardiomyopathies.
View Article and Find Full Text PDFDetection of cardiac amyloidosis using machine learning on routine echocardiographic measurements.
Open Heart
December 2024
Cedars-Sinai Medical Center, Los Angeles, California, USA
Background: Cardiac amyloidosis (CA) is an underdiagnosed, progressive and lethal disease. Machine learning applied to common measurements derived from routine echocardiogram studies can inform suspicion of CA.
Objectives: Our objectives were to test a random forest (RF) model in detecting CA.
Rheumatic Heart Disease and Endomyocardial Fibrosis: A Complex Novel Case of Heart Failure.
JACC Case Rep
November 2024
Division of Cardiology, Department of Medicine, Emory University School of Medicine, Atlanta, Georgia, USA.
Rheumatic heart disease (RHD) and endomyocardial fibrosis (EMF) are major causes of cardiac disease in low-income countries. We present a case of a patient with mitral stenosis and restrictive cardiomyopathy, initially attributed to severe RHD, but with disease progression despite valve replacement, likely secondary to previously undiagnosed EMF.
View Article and Find Full Text PDFMultiorgan Involvement: Is There a Relevant Pathogenetic Link?
J Assoc Physicians India
December 2024
Head of Department, PSG Institute of Medical Sciences & Research, Coimbatore, Tamil Nadu, India.
Multisystem autoimmune disorders have different presenting symptoms with organ involvement phased over numerous years. We have a 56-year-old homemaker who is a known case of Graves' disease-post-thyroidectomy performed 20 years ago-and developed a volume overload state with exertional dyspnea for a period of 1.5 years.
View Article and Find Full Text PDFIdentification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy [Letter].
J Multidiscip Healthc
December 2024
Department of Biomedical Sciences, Postgraduate School, Hasanuddin University (UNHAS), Makassar, Indonesia.
Generation of two isogenic control lines by correcting the BAG3 P209L mutation of human induced pluripotent stem cell (hiPSC) lines from patients with myofibrillar myopathy-6.
Stem Cell Res
December 2024
Institute of Physiology I, Medical Faculty, University of Bonn, Germany. Electronic address:
BAG3 plays a key role in proteostasis as a central component of the chaperone-assisted selective autophagy (CASA) complex. A point mutation (p.P209L; c.
View Article and Find Full Text PDFGeneration and characterization of an isogenic control line by correcting the BAG3 P209L mutation of a human induced pluripotent stem cell (hiPSC) line from a patient with myofibrillar myopathy-6.
Stem Cell Res
December 2024
Institute of Physiology I, Medical Faculty, University of Bonn, Germany. Electronic address:
BAG3 is a central component of the chaperone-assisted selective autophagy complex and thus important for proteostasis. This function is affected by a point mutation (p.P209L; c.
View Article and Find Full Text PDFCase Report: Restrictive cardiomyopathy due to a rare mutation in troponin I () in a patient.
Front Cardiovasc Med
November 2024
Comprehensive Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.
Article Synopsis
- - The text discusses a rare heart condition called restrictive cardiomyopathy (RCM), which typically involves normal or reduced heart chamber sizes and enlargement of the atria, mainly caused by genetic mutations, with heart transplantation being the primary treatment option.
- - It presents a specific case of a 2-year-old boy from China who exhibited symptoms like bruising and swelling, leading to a diagnosis of RCM linked to a mutation in the TNNI3 gene, but unfortunately, he passed away two months later despite conservative treatment.
- - The study highlights the crucial role of cardiac MRI and genetic testing in diagnosing RCM, as well as the variability of TNNI3 mutations among different populations, urging further research to enhance precision treatment strategies for
Acute Humoral Rejection 12 Days Post-Heart Transplantation with Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Antigen Expression in Myocardial Tissue: A Clinical Case.
Turk Kardiyol Dern Ars
December 2024
Almazov National Medical Research Centre, St. Petersburg, Russia.
Article Synopsis
- The study details a case of acute humoral rejection (AMR) in a heart transplant patient who had a history of hypertrophic cardiomyopathy and chronic myocarditis.
- After the transplant, the patient faced complications like pneumonia, leading to reduced immunosuppressive therapy.
- Tragically, the patient suffered a fatal hemodynamic collapse linked to autopsy findings of AMR with significant presence of CD16+ cells and SARS-CoV-2 Spike protein, highlighting the need for further research on the virus's impact on AMR.
A Case of Eosinophilic Infiltration of the Right Heart: Diagnostic and Management Considerations.
Heart Views
October 2024
Department of Cardiology, Royal Lancaster Infirmary, Lancaster, United Kingdom.
Article Synopsis
Cardiac Amyloidosis Versus Other Restrictive Cardiomyopathies: A Retrospective Analysis of Cardiovascular Outcomes and Arrhythmic Burden.
Clin Med Insights Cardiol
November 2024
Division of Cardiology, SIU School of Medicine, Springfield, IL, USA.
Article Synopsis
Cardiac Abnormalities in Hypereosinophilic Syndromes.
Arq Bras Cardiol
October 2024
Instituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brasil.
Article Synopsis
- Hypereosinophilia (HE) is characterized by an eosinophil count over 1500 cells/microL in blood tests, confirmed by either blood tests or high eosinophil percentages in bone marrow samples. Hypereosinophilic syndrome (HES) involves organ damage due to eosinophils and can be classified as primary, secondary, or idiopathic.
- Cardiac issues occur in 5% of acute cases and 20% of chronic cases of HES, presenting symptoms like heart failure and arrhythmias, but the severity of heart problems isn't always proportional to eosinophil levels.
- Diagnosis of cardiac involvement relies on advanced imaging techniques, particularly
Optimizing drug therapies in cardiac amyloidosis.
Pharmacol Ther
January 2025
Division of Cardiology, University of Louisville Hospital, Louisville, KY, United States of America. Electronic address:
Article Synopsis
- Cardiac amyloidosis (CA) is a challenging heart condition characterized by the buildup of amyloid proteins, leading to poor outcomes but improvements in diagnosis and treatment options are underway.
- The article discusses treatment advancements for two main types: transthyretin cardiac amyloidosis (ATTR-CA) and light chain mediated cardiac amyloidosis (AL-CA), highlighting promising therapies for ATTR-CA that target amyloid fibril formation.
- Current treatment for AL-CA typically involves chemotherapy, and successful management of CA relies on a team of specialists from various medical fields to address patient needs effectively.
Identification of a Missense Mutation in the Gene from a Chinese Family with Restrictive Cardiomyopathy.
J Multidiscip Healthc
November 2024
Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, People's Republic of China.
Article Synopsis
- The study aimed to identify the genetic cause of restrictive cardiomyopathy (RCM) in a family using whole-exome sequencing (WES), highlighting the role of genetic variants in the disease's development.
- A 20-year-old male patient with severe heart failure symptoms was found to have a potentially harmful missense mutation in the filamin-C gene, which was absent in his healthy parents, suggesting it could be a new mutation.
- The discovery of this mutation, previously linked to hypertrophic cardiomyopathy, indicates a genetic overlap between different forms of cardiomyopathy, enhancing the understanding of RCM.
Heart failure following cavopulmonary shunt - An unusual story of desmin cardiomyopathy.
Ann Pediatr Cardiol
October 2024
Department of Cardiology, All India Institute of Medical Sciences, New Delhi, India.
Partial cavopulmonary shunt is an established procedure for patients with abnormal right ventricular (RV) physiology. Late failure of the Glenn shunt is usually due to further progression of the primary disease process. However, there may be surprises, as in our patient.
View Article and Find Full Text PDFNavigating the Diagnostic and Management Challenges of Suspected Cardiac Amyloidosis in Resource-Limited Settings: Ethiopia Experience.
Clin Case Rep
November 2024
Department of Emergency Medicine and Critical Care, College of Medicine and Health Sciences Hawassa University Hawassa Ethiopia.
Article Synopsis
- - The report highlights the challenges of diagnosing and treating cardiac amyloidosis (CA) in resource-limited settings, using a case study of a patient who took 13 months and multiple doctor visits to receive a correct diagnosis.
- - Discrepancies in electrocardiogram (ECG) and echocardiogram findings, along with high cardiac troponin levels, played a crucial role in identifying CA, pointing to the need for better awareness among primary care providers.
- - The study calls for improved resources, including enhanced clinical suspicion and training in CA-specific diagnostic indicators, along with quick referrals to specialists for effective patient management.
Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies.
Int J Cardiol
January 2025
M3C-Necker, Cardiologie Congénitale et Pédiatrique, APHP- Hôpital Universitaire Necker-Enfants malades, Paris, France.
Article Synopsis
- - The study compares genotypes between pediatric cardiomyopathy (pCM) and adult-onset cardiomyopathy (aCM) to understand why pCM has earlier onset and differs in severity.
- - Analysis of 253 pCM patients revealed a higher rate of genetic variants, particularly in restrictive pCM, and identified critical risk factors for adverse outcomes such as early diagnosis and presence of multiple variants.
- - Genetic testing not only clarified the genetic basis for pCM but also enhanced genetic counseling for families, resulting in cases of prenatal diagnosis.
Exercise limitations in amyloid cardiomyopathy assessed by cardiopulmonary exercise testing-A multicentre study.
ESC Heart Fail
November 2024
Centro Cardiologico Monzino, IRCCS, Milan, Italy.
Article Synopsis
Sodium-Glucose Cotransporter 2 Inhibitor Therapy in Different Scenarios of Heart Failure: An Overview of the Current Literature.
Int J Mol Sci
October 2024
Department of Clinical, Internal, Anesthesiology and Cardiovascular Sciences, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy.
Article Synopsis
Symptomatic orthostatic hypotension due to standing mid-left ventricular obstruction: a case report.
Eur Heart J Case Rep
November 2024
Department of Advanced Biomedical Sciences, University Federico II, via S.Pansini, 5, I-80131 Naples, Italy.
Article Synopsis
- Orthostatic hypotension (OH) is a common issue linked to autonomic dysfunction but can arise from other causes, highlighting the complexity of its mechanisms.* -
- A case of an 88-year-old woman revealed that her recurrent fainting episodes while standing were due to OH linked to mid-left ventricular obstruction, which was identified through echocardiography.* -
- Treatment that included stopping diuretics and administering fluids and beta-blockers successfully resolved her OH, emphasizing the need to explore various treatments beyond standard practices for elderly patients.*
Heart failure associated with chronic Chagas cardiomyopathy increases the risk of impaired lung function and reduced submaximal functional capacity.
Heart Lung
November 2024
Evandro Chagas National Institute of Infectious Disease, Oswaldo Cruz Foundation, Rio de Janeiro, RJ, Brazil; Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
Article Synopsis
- - The study investigates the differences in respiratory function and physical capacity between patients with chronic Chagas cardiomyopathy (CC) who have heart failure (HF) and those who do not.
- - Using spirometry and a six-minute step test, the results showed that patients with HF had significantly lower lung function and functional capacity compared to those without HF.
- - Conclusively, the research indicates that adults with CC and HF exhibit reduced lung function, suggesting a restrictive pulmonary pattern impacting their overall health.
Role of biomarkers in early diagnosis and prognosis of cardiac amyloidosis: A systematic review and meta-analysis.
Curr Probl Cardiol
January 2025
Lung Transplant Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Article Synopsis
- Cardiac amyloidosis involves amyloid deposits in the heart, leading to serious conditions like heart failure, making early diagnosis important for treatment.
- A systematic review analyzed studies on biomarkers to detect and track cardiac amyloidosis, focusing on their diagnostic and prognostic value.
- Key findings highlighted that NT-proBNP and troponins are effective for early detection, while new biomarkers may help differentiate subtypes and predict disease progression, though results varied with imaging correlations.
Valvular heart disease and cardiomyopathy in China: epidemiology and current treatments.
J Geriatr Cardiol
September 2024
The Writing Committee of the Report on Cardiovascular Health and Diseases in China.
Article Synopsis
- The report highlights the growing prevalence of degenerative valvular heart disease in China, mainly due to an aging population and improved living standards, while rheumatic valve disease remains the primary cause.
- Many patients show mild to moderate symptoms, leading to late diagnoses and severe conditions which complicate treatment and prognosis; early detection through better screening practices is essential.
- Cardiomyopathy, a group of myocardial diseases not attributed to other conditions, consists of various types such as hypertrophic and dilated cardiomyopathy, necessitating more specialized training for healthcare providers to enhance treatment options.
The myocardial function index (MFI): An integrated measure of cardiac function in AL-cardiomyopathy.
Int J Cardiol Heart Vasc
December 2024
Division of Cardiology, Department of Medicine, Mayo Clinic, Rochester, MN, USA.
Article Synopsis
- AL amyloidosis can lead to heart issues (AL-CM), and existing imaging techniques struggle to identify heart dysfunction accurately.* -
- A study involving cardiac MRIs compared patients with AL-CM to healthy individuals, revealing lower myocardial function index (MFI) in AL-CM patients and indicating MFI as a potential marker for risk assessment.* -
- The findings showed that a lower MFI correlates with worse survival rates, making it a valuable tool for evaluating heart health in AL-CM patients.*