2019 | Gianfranco Sinagra, Marco Merlo, Bruno Pinamonti
Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by left ventricular (LV) or biventricular dilation and systolic dysfunction, without pressure or volume overload or coronary artery disease. Over the past 30 years, the prognosis of DCM patients has significantly improved, with survival rates now exceeding 85% at 10 years. This improvement is due to better understanding of etiological factors, medical management of heart failure, and device treatments like implantable cardioverter defibrillators (ICDs) for sudden cardiac death prevention. Early diagnosis through familial and sport-related screening allows detection of DCM at a less severe stage, and continuous follow-up helps manage the disease effectively.
DCM is often genetically determined, with recent genetic studies revealing that genetically determined DCMs are more common than previously believed. However, it is not a monogenic disease, with multiple unknown epigenetic interactions. The management of genetic testing results remains debated, as incomplete penetrance and epigenetic regulations can lead to genotype-positive-phenotype-negative patients. Researchers continue to identify the mechanisms underlying the disease to improve survival outcomes.
Etiological characterization of newly discovered DCM is crucial. Removing disease triggers like tachyarrhythmias, hypertension, alcohol, chemotherapy, and inflammation is essential for reverse remodeling. The interaction between environmental factors and genetic background is still unclear, but future research could lead to personalized medicine based on genetic background, lifestyle, and environment.
Genetic testing alone is not sufficient for a comprehensive approach. A red-flag approach includes a complete evaluation starting from physical examination, family history, ECG, biohumoral analysis, echocardiogram, and reaching magnetic resonance and advanced techniques. These techniques are essential for addressing unresolved issues in DCM management, such as arrhythmic risk stratification and the absence of multiparametric risk scores.
International collaboration is needed to improve understanding of DCM, as it remains a relatively rare disease. The book aims to provide the most updated knowledge on pathophysiology and practical guidelines for DCM management. It emphasizes a multidisciplinary approach, considering the complex nature of DCM and its impact on patients and families. The book also highlights the importance of genetic testing, family screening, and personalized medicine in improving outcomes for DCM patients.Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by left ventricular (LV) or biventricular dilation and systolic dysfunction, without pressure or volume overload or coronary artery disease. Over the past 30 years, the prognosis of DCM patients has significantly improved, with survival rates now exceeding 85% at 10 years. This improvement is due to better understanding of etiological factors, medical management of heart failure, and device treatments like implantable cardioverter defibrillators (ICDs) for sudden cardiac death prevention. Early diagnosis through familial and sport-related screening allows detection of DCM at a less severe stage, and continuous follow-up helps manage the disease effectively.
DCM is often genetically determined, with recent genetic studies revealing that genetically determined DCMs are more common than previously believed. However, it is not a monogenic disease, with multiple unknown epigenetic interactions. The management of genetic testing results remains debated, as incomplete penetrance and epigenetic regulations can lead to genotype-positive-phenotype-negative patients. Researchers continue to identify the mechanisms underlying the disease to improve survival outcomes.
Etiological characterization of newly discovered DCM is crucial. Removing disease triggers like tachyarrhythmias, hypertension, alcohol, chemotherapy, and inflammation is essential for reverse remodeling. The interaction between environmental factors and genetic background is still unclear, but future research could lead to personalized medicine based on genetic background, lifestyle, and environment.
Genetic testing alone is not sufficient for a comprehensive approach. A red-flag approach includes a complete evaluation starting from physical examination, family history, ECG, biohumoral analysis, echocardiogram, and reaching magnetic resonance and advanced techniques. These techniques are essential for addressing unresolved issues in DCM management, such as arrhythmic risk stratification and the absence of multiparametric risk scores.
International collaboration is needed to improve understanding of DCM, as it remains a relatively rare disease. The book aims to provide the most updated knowledge on pathophysiology and practical guidelines for DCM management. It emphasizes a multidisciplinary approach, considering the complex nature of DCM and its impact on patients and families. The book also highlights the importance of genetic testing, family screening, and personalized medicine in improving outcomes for DCM patients.