Genetics in Heart Failure: Where Are We Headed?

Abstract

Heart failure is a complex disease with many precipitating factors. Novel insights into the genetic background of heart failure have boosted new areas of research that gave rise to the concept of genetic predisposition for heart failure. Various genetic defects and variances have been identified and subsequently linked to the onset of or progression to heart failure. Nevertheless, our understanding of the genetic basis for heart failure is incomplete because we lack knowledge of the functionality of genetic variances. We also do not understand the impact of genetic variances in noncoding DNA because of logistic problems in performing whole‐genome scans and difficulties in statistical evaluation of large amounts of data generated by the genetic boom. It is expected that in the future we will be able to overcome these problems and apply the knowledge gained by genetic analyses to target and optimize treatment.

Cardiovascular Nursing on Human Genomics: What Do Cardiovascular Nurses Need to Know About Congestive Heart Failure?

“…However, it may be disappointing that the knowledge gained has not yet lead to substantial changes in daily clinical practice for physicians or nurses. 1 A clinical geneticist's evaluation and testing for various genetic polymorphisms to predict the occurrence of HF is indicated for individuals with single gene mutations associated with the familial cardiomyopathies. A genetic evaluation is not warranted at this time for those with HF that is multifactorial in nature.…”

“…A genetic evaluation is not warranted at this time for those with HF that is multifactorial in nature. 1 Currently, no clinical guideline recommends genetic testing before the initiation of pharmacotherapy in HF. To address the complexity of common HF, future research involving advanced genetic technology, larger sample size, various stages of HF, advanced analysis to determine gene-gene and gene-environmental interactions are needed.…”

“…Currently, the genetic contribution to ischemic cardiomyopathy is limited, due to the multifactorial nature of this disease. 1 The second most common cause of secondary HF is chronically increased intracardiac pressure due to uncontrolled hypertension. Elevated intracardiac pressure impedes myocardial filling during diastole, or diastolic dysfunction.…”

“…The decline in function is accompanied by cardiac remodeling as the body attempts to maintain cardiac function during short-term cardiac stress. 1,2 HF is most often accompanied by a decline in quality of life and functional capacity. The fatigue and dyspnea symptoms of HF are caused by peripheral and/or pulmonary congestion.…”

“…to HF due to a primary cardiomyopathy, caused by a single gene defect. 1 Pedigrees of families with autosomal dominant disorders demonstrated equal distribution of affected males and females, and affected individuals in every generation (linear inheritance). In contrast, affected siblings (horizontal inheritance) characterizes pedigrees of families with recessive disorders.…”