Heart Failure in the Era of Precision Medicine: A Scientific Statement From the American Heart Association

Cresci, Sharon; Pereira, Naveen L.; Ahmad, Ferhaan; Byku, Mirnela; Fuentes, Lisa de las; Lanfear, David E.; Reilly, Carolyn Miller; Owens, Anjali Tiku; Wolf, Matthew J.

doi:10.1161/hcg.0000000000000058

Cited by 45 publications

(31 citation statements)

References 251 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…2) A better treatment of ARDS requires open sharing of data, expertise and integration of multiple data streams. 3) Apply techniques used to integrate phenotypic data in other complex syndromes, such as chronic airway diseases or heart failure, in ARDS [71].…”

Section: Integrating Heterogeneity In Aetiology Physiology and Biologymentioning

confidence: 99%

Precision medicine in acute respiratory distress syndrome: workshop report and recommendations for future research

et al. 2021

View full text Add to dashboard Cite

Acute respiratory distress syndrome (ARDS) is a devastating critical illness that can be triggered by a wide range of insults and remains associated with a high mortality of around 40%. The search for targeted treatment for ARDS has been disappointing, possibly due to the enormous heterogeneity within the syndrome. In this perspective from the European Respiratory Society research seminar on “Precision medicine in ARDS”, we will summarise the current evidence for heterogeneity, explore the evidence in favour of precision medicine and provide a roadmap for further research in ARDS. There is evident variation in the presentation of ARDS on three distinct levels: 1) aetiological; 2) physiological and 3) biological, which leads us to the conclusion that there is no typical ARDS. The lack of a common presentation implies that intervention studies in patients with ARDS need to be phenotype aware and apply a precision medicine approach in order to avoid the lack of success in therapeutic trials that we faced in recent decades. Deeper phenotyping and integrative analysis of the sources of variation might result in identification of additional treatable traits that represent specific pathobiological mechanisms, or so-called endotypes.

show abstract

Section: Integrating Heterogeneity In Aetiology Physiology and Biologymentioning

confidence: 99%

Precision medicine in acute respiratory distress syndrome: workshop report and recommendations for future research

et al. 2021

View full text Add to dashboard Cite

show abstract

“…A rapidly expanding area of research in the realm of HF is precision medicine in which the "omics"genomics, pharmacogenomics, epigenomics, proteomics, metabolomics, and microbiomics of HF and their impact on the development, progression, and treatment are being evaluated. For instance, there is mounting evidence that development of HF may have some degree of genetic inheritance from the cumulative effect of multiple variants in multiple genes each exerting an effect on the potential development of the clinical syndrome (52). Furthermore, substantial work has also been performed in pharmacogenomics or the role of inheritance in observed drug responses.…”

Section: Precision Medicinementioning

confidence: 99%

Updates in pharmacotherapy of heart failure with reduced ejection fraction

Espinoza¹,

Alkhateeb²,

Siddiqui³

2021

Ann Transl Med

View full text Add to dashboard Cite

Heart failure is a common entity encountered in healthcare with a vast socioeconomic impact.Recent advances in pharmacotherapy have led to the development of novel therapies with mortality benefits, improvement in heart failure symptoms and hospitalizations. This article is intended to explore those newer pharmacotherapies and summarize the evidence behind guideline directed medical therapy (GDMT) for heart failure with reduced ejection fraction (HFrEF). It has been several years since any significant advances in pharmacotherapy of heart failure have resulted in survival benefit. Angiotensin-neprilysin inhibitors through the PARADIGM-HF and PIONEER-HF trials have shown mortality benefits and a reduction in heart failure hospitalizations and are considered landmark trials in heart failure. Vericiguat is an oral guanylate cyclase stimulator that through the recent VICTORIA trial showed a 10% relative difference in death from cardiovascular cause or hospitalization for heart failure. The sodium-glucose transport protein 2 (SGLT2) inhibitors are another class of medications that have shown promise in the treatment of patients with HFrEF and diabetes mellitus. The CANVAS and EMPA-REG OUTCOME trials showed the potential benefit of SGLT2 inhibitors on cardiovascular mortality, DECLARE-TIMI 58 trial showed that treatment with dapagliflozin reduced the risk of cardiovascular death or hospitalization for heart failure to a greater extent in patients with reduced ejection fraction (EF). Although novel pharmacotherapy is the current focus of intense research, there have been numerous studies on potential benefit of iron supplementation in ferropenic patients with heart failure. Another rapidly expanding area of research in the realm of heart failure is precision medicine and its impact on the development, progression, and treatment of heart failure. The field of heart failure is dynamic and with the influx of data from recent and ongoing trials, newer therapies with morbidity and mortality benefits in HFrEF are now available, nonetheless, much work is still needed.

show abstract

“…Third, ERT and chaperone therapy are efficacious in reducing left ventricular mass and hypertrophy [ 15 – 17 ]. Fourth, applying a precision medicine approach to diagnosis and therapy will improve clinical outcomes for patients with FD, while also providing risk stratification for family members if a pathogenic variant is identified [ 18 ]. The current study was designed to assess whether DBS testing may be used to diagnose FD, allowing for earlier detection of the disease in patients with left ventricular hypertrophy (LVH) and to allow for treatment to be started promptly.…”

Section: Introductionmentioning

confidence: 99%

Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy

Sadasivan

Chow

Sheng³

et al. 2020

PLoS ONE

View full text Add to dashboard Cite

Fabry Disease (FD) is a systemic disorder that can result in cardiovascular, renal, and neurovascular disease leading to reduced life expectancy. FD should be considered in the differential of all patients with unexplained left ventricular hypertrophy (LVH). We therefore performed a prospective screening study in Edmonton and Hong Kong using Dried Blood Spot (DBS) testing on patients with undiagnosed LVH. Participants found to have unexplained LVH on echocardiography were invited to participate and subsequently subjected to DBS testing. DBS testing was used to measure α-galactosidase (α-GAL) enzyme activity and for mutation analysis of the α-galactosidase (GLA) gene, both of which are required to make a diagnosis of FD. DBS testing was performed as a screening tool on patients (n = 266) in Edmonton and Hong Kong, allowing for detection of five patients with FD (2% prevalence of FD) and one patient with hydroxychloroquine-induced phenocopy. Left ventricular mass index (LVMI) by GLA genotype showed a higher LVMI in patients with IVS4 + 919G > A mutations compared to those without the mutation. Two patients were initiated on ERT and hydroxychloroquine was discontinued in the patient with a phenocopy of FD. Overall, we detected FD in 2% of our screening cohort using DBS testing as an effective and easy to administer screening tool in patients with unexplained LVH. Utilizing DBS testing to screen for FD in patients with otherwise undiagnosed LVH is clinically important due to the availability of effective therapies and the value of cascade screening in extended families.

show abstract

Heart Failure in the Era of Precision Medicine: A Scientific Statement From the American Heart Association

Cited by 45 publications

References 251 publications

Precision medicine in acute respiratory distress syndrome: workshop report and recommendations for future research

Precision medicine in acute respiratory distress syndrome: workshop report and recommendations for future research

Updates in pharmacotherapy of heart failure with reduced ejection fraction

Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy

Contact Info

Product

Resources

About