Left ventricular mass assessment by CMR; how to define the optimal index

Vascular Biology and Interventio

Chapter 14: Unresolved Issues and Future Perspectives

The last years witnessed an important progress in the diagnosis and treatment of dilated cardiomyopathy (DCM), improving prognosis and life expectancy. However, some important issues in clinical management remain unresolved. The role of genetic testing, the arrhythmic stratification, and the therapeutic approach still represent areas of uncertainty. The way for improving care of DCM should go through better understanding of the etiological basis of the disease, appropriate risk stratification, and development of new therapies. The abovementioned issues represent the most important and demanding challenges for the next future research on DCM

The genetic landscape of cardiomyopathies

Insights into genetic causes of cardiomyopathies have tremendously contributed to the understanding of the molecular basis and pathophysiology of hypertrophic, dilated, arrhythmogenic, restrictive and left ventricular noncompaction cardiomyopathy. More than thousand mutations in approximately 100 genes encoding proteins involved in many different subcellular systems have been identified indicating the diversity of pathways contributing to pathological cardiac remodeling. Moreover, the classical view based on morphology and physiology has been shifted toward genetic and molecular patterns defining the etiology of cardiomyopathies. Today, novel high-throughput genetic technologies provide an opportunity to diagnose individuals based on their genetic findings, sometimes before clinical signs of the disease occur. However, the challenge remains that rapid research developments and the complexity of genetic information are getting introduced into the clinical practice, which requires dedicated guidance in genetic counselling and interpretation of genetic test results for the management of families with inherited cardiomyopathies