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.
