Disease of the heart muscle
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Understanding Heart Muscle Diseases: Cardiomyopathies and Their Implications
Overview of Cardiomyopathies
Cardiomyopathies are a group of diseases that affect the heart muscle, leading to impaired heart function. These conditions are a major cause of heart failure and sudden cardiac death, particularly in young, otherwise healthy individuals2 10. Cardiomyopathies can be classified into various types based on their causes and characteristics, including hypertrophic, dilated, and restrictive cardiomyopathies3 4.
Genetic Basis and Molecular Mechanisms
Recent advances in molecular genetics have significantly enhanced our understanding of cardiomyopathies. Many cases of hypertrophic and dilated cardiomyopathies are linked to genetic mutations, particularly in sarcomeric proteins, which are crucial for heart muscle contractility6 10. These genetic mutations can lead to changes in cell signaling pathways and contractile mechanics, contributing to the development and progression of the disease6.
Classification and Diagnosis
The classification of cardiomyopathies has evolved to incorporate new genetic and molecular insights. The American Heart Association and the European Society of Cardiology have both proposed updated classification schemes that distinguish between primary (idiopathic) and secondary cardiomyopathies, the latter being caused by identifiable pathologies such as coronary artery disease or metabolic disorders3 4. Accurate classification is essential for diagnosis, treatment, and risk stratification.
Metabolic and Mitochondrial Cardiomyopathies
Cardiomyopathies can also result from metabolic abnormalities, including mitochondrial dysfunction and inborn errors of metabolism. These conditions disrupt the energy production and utilization processes in heart muscle cells, leading to structural and functional deficiencies5. Left ventricular noncompaction cardiomyopathy, often associated with sarcomere and cytoskeletal protein mutations, is one such example5.
Hereditary Muscular Dystrophies and Cardiac Involvement
Muscular dystrophies, a group of hereditary neuromuscular disorders, frequently involve the heart muscle. The dystrophic process can affect both heart muscle cells and the myocardial conduction system, leading to cardiomyopathy, heart failure, and arrhythmias1. The prognosis of patients with muscular dystrophies is closely linked to their cardiac status, necessitating active surveillance and management of cardiac complications1.
Imaging and Risk Stratification
Imaging techniques, particularly MRI, play a crucial role in the assessment and management of cardiomyopathies. MRI provides detailed information on myocardial tissue characteristics and functional properties, aiding in diagnosis, differential diagnosis, and monitoring of disease progression. It is also valuable for risk stratification, helping to predict potential complications such as arrhythmias and sudden cardiac death7.
Heart Failure and Skeletal Muscle Involvement
Heart failure, a common outcome of cardiomyopathies, has systemic effects, including on skeletal muscle. Chronic heart failure can lead to skeletal muscle inflammation, atrophy, and dysfunction, contributing to exercise intolerance and increased morbidity. Inflammatory responses, both systemic and local, are key drivers of these pathological changes8.
Conclusion
Heart muscle diseases, or cardiomyopathies, represent a diverse and complex group of conditions with significant implications for heart function and overall health. Advances in genetic and molecular research have improved our understanding of these diseases, leading to better diagnostic and therapeutic strategies. Ongoing research and clinical vigilance are essential for managing these conditions and improving patient outcomes.
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Most relevant research papers on this topic
Hereditary muscular dystrophies and the heart
Hereditary muscular dystrophies can lead to cardiac disease, requiring active investigation and timely management, as prognosis may be directly related to cardiac status.
Highly CitedThe failing heart
Understanding the genetic basis for cardiomyopathies has led to improved diagnostic strategies and potential new therapies for heart failure.
Highly CitedContemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interd
This new classification of cardiomyopathies provides clarity and reflects the rapid evolution of molecular genetics in cardiology, incorporating ion channelopathies as a primary cardiomyopathy.
Highly CitedClassification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases.
The European Society of Cardiology Working Group on Myocardial and Pericardial Diseases has updated its classification scheme for heart muscle diseases, aiming to provide more specific diagnoses for patients.
Highly CitedCardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism.
Left ventricular noncompaction cardiomyopathy, mitochondrial dysfunction, metabolic abnormalities, storage diseases, and inborn errors of metabolism are common causes of heart muscle dysfunction.
Rigorous JournalHighly CitedCardiomyopathies and Related Changes in Contractility of Human Heart Muscle
Contractile dysfunction plays a central role in initiation and progression of cardiomyopathies, with abnormalities in myofibril contractility being discovered.
Skeletal muscle inflammation and atrophy in heart failure
Heart failure leads to muscle dysfunction and atrophy, with distinct immune subsets playing key roles in this process.
Infection of the heart by the human immunodeficiency virus.
HIV infection in the heart may represent a preclinical marker for AIDS-associated heart muscle disease, but its clinical significance remains unclear.
In Vitro StudyHighly CitedShared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
Shared genetic pathways contribute to the risk of hypertrophic and dilated cardiomyopathies, with opposite effects in HCM and DCM, and increased contractility linked to HCM risk.
Observational StudyRigorous JournalHighly Cited