Genetic testing over the years has grown to be a crucial aspect in medical practice for inheritable forms of cardiomyopathies. However, though a great deal of progress in understanding the genetic basis of dilated cardiomyopathy has been made, issues of rare variants, prevalence, penetrance, mismatch, noncausal options, the burden of heart failure, and the more-complex genomics that underlie dilated cardiomyopathy still exist in cardiovascular genetics today. The challenging aspect of identifying common and rare genetic variants contributing to systolic heart failure is made difficult due to its diverse and multiple etiology. Improving our understanding of the genetic basis of both systolic heart failure and dilated cardiomyopathies, would lead to the discovery of rare novel variant(s), identify malignant phenotypes, help optimize treatment and clarify the diagnosis. Hence, this chapter aims to provide a detailed and concise overview of dilated cardiomyopathy genetic etiology, discuss the latest phenomic and genomic available data which are vital to understanding the emerging complexity of familial dilated cardiomyopathy as well as the clinical utilities and limitations of genetic testing. The chapter will also, examine the genetic underpinnings of heart failure syndromes, advances in the common and rare variant discovery and the interpretation in dilated cardiomyopathy and systolic heart failure. With this in mind, this chapter will further aim to define the diagnostic criteria(s) of familial dilated cardiomyopathy, current clinical management options/strategies and the implications, these findings hold for patient care and future research.
Keywords: Arrhythmias, Beta-Myosin Heavy Chain, Cardiomyopathy, Cardiac Troponin-I, dilated cardiomyopathy, Diagnosis, Genes, Genetic testing, Genetic counselling, Human genetics, Heart failure, left ventricular dysfunction, Left ventricular function normalization, Myosin, Molecular biology, Mutation, Next-generation sequencing technology, Patients, Sudden cardiac death, Troponin T, Tropomyosin, Therapeutics.