Heart failure (HF) is a complex clinical syndrome resulting from structural or functional impairments of ventricular filling or ejection of blood. HF has a poor prognosis and the burden to society remains tremendous. The unfulfilled expectation is that expanding our knowledge of the genetic architecture of HF will help to quickly advance the quality of risk assessment, diagnoses, and treatment. To date, genome-wide association studies (GWAS) of HF have led to disappointing results with only limited progress in our understanding and tempering the earlier expectations. However, the analyses of traits closely related to HF (also called 'endophenotypes') have led to promising and novel findings. For example, GWAS of NT-proBNP levels not only identified variants in the NNPA-NPPB locus but also substantiated data suggesting that natriuretic peptides in itself are associated with a lower risk of hypertension and HF. Many other genetic associates currently await experimental follow-up in which genes are prioritized based on bioinformatic analyses and various model organisms are employed to obtain functional insights. Promising genes with identified function could later be used in personalized medicine. Also, targeting specific pathogenic gene mutations is promising to protect future generations from HF, such as recently done in human embryos carrying the cardiomyopathy-associated MYBPC3 mutation. This review discusses the current status of GWAS of HF and its endophenotypes. In addition, future directions such as functional follow-up and application of GWAS results are discussed.
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http://dx.doi.org/10.1093/cvr/cvy083 | DOI Listing |
Introduction: Moderate to severe tricuspid regurgitation (TR) in the setting of acute heart failure (AHF) has been found to be associated with worse clinical outcomes. Recently, the TRI-SCORE was developed to predict clinical outcomes after isolated tricuspid surgery.
Objectives: To determine whether this score could aid in risk stratification of AHF patients with moderate-severe TR.
Introduction: The relationship between the phenotype and treatment of psoriatic arthritis (PsA) and the increased prevalence of cardiovascular comorbidities is not well studied.
Objective: To assess the prevalence of cardiovascular comorbidities in relation to the clinical phenotype and treatment of PsA.
Methods: This was a cross-sectional, real-life study.
Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disorder associated with an increased risk of arrhythmias, heart failure, and sudden cardiac death. Current imaging and clinical markers are not fully sufficient in accurate diagnosis and patient risk stratification. Although known cardiac biomarkers in blood are used, they lack specificity for HCM and primarily stratify for death due to heart failure in overt cases.
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December 2024
Department of Cardiovascular Surgery, Nihon University School of Medicine, Tokyo, JPN.
Left ventricular (LV) thrombus is a serious complication of myocardial infarction (MI) that can lead to a fetal systemic embolism. Although coronary artery bypass graft surgery (CABG) after MI is widely performed, to our knowledge, there are no reports of LV thrombus in the early postoperative period. Here, we report a rare case of a 70-year-old man who underwent off-pump coronary artery bypass grafting (OPCAB) for unstable angina pectoris with reduced left ventricular ejection fraction (LVEF).
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December 2024
Internal Medicine, Sher-I-Kashmir Institute Of Medical Sciences, Srinagar, IND.
Brucellosis is one of the most common zoonotic infections present worldwide. It usually presents as a febrile illness but can affect multiple organs of the body. Although cardiac involvement in brucellosis is rare, it is a fatal organ involvement.
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