ArticleEuropean journal of heart failure2022
Genetic and phenotypic profiling of supranormal ejection fraction reveals decreased survival and underdiagnosed heart failure.
Article in European journal of heart failure, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 45 citations in OpenAlex.
- Characteristics and clinical outcomes of patients with acute heart failure with a supranormal left ventricular ejection fraction.European journal of heart failure · 2023Trial
- Supranormal Ejection Fraction as a Clinical Red Flag: Differentiating Hemodynamic Stress From Intrinsic Cardiomyopathy in Heart Failure.Mayo Clinic proceedings. Innovations, quality & outcomes · 2026Article
- Phenotyping Heart Failure: Looking Beyond Left Ventricular Ejection Fraction.Mayo Clinic proceedings. Innovations, quality & outcomes · 2026Article
- A U-shaped relationship between left ventricular ejection fraction and risk of worsening heart failure.European journal of heart failure · 2025Article
- Machine learning-based penetrance of genetic variants.Science (New York, N.Y.) · 2025Article
- Clinical and plasma proteomic characterization of heart failure with supranormal left ventricular ejection fraction: An emerging entity of heart failure.European journal of heart failure · 2025Article
- Heart Failure Syndromes: Different Definitions of Different Diseases-Do We Need Separate Guidelines? A Narrative Review.Journal of clinical medicine · 2025Review
- Cardiac magnetic resonance markers of pre-clinical hypertrophic and dilated cardiomyopathy in genetic variant carriers.BMC medicine · 2025Article
- Heart failure with supranormal ejection fraction: clinical characteristics and outcomes compared to mildly reduced and preserved ejection fraction.Clinical research in cardiology : official journal of the German Cardiac Society · 2025Article
- Characterizing Heart Failure Across the Spectrum of the Preserved Ejection Fraction: Does Heart Failure With Supranormal Ejection Fraction Exist? Data From the Swedish Heart Failure Registry.Journal of the American Heart Association · 2025Article
- "Better Is the Enemy of Good": The Deleterious Effects of Supra-Normal Left Ventricular Ejection Fraction.Echocardiography (Mount Kisco, N.Y.) · 2025Article
- 2024 update in heart failure.ESC heart failure · 2025Review
- Immune cell profiling of the ICAM1 p.K56M heart failure with preserved ejection fraction risk variant.ESC heart failure · 2024Article
- Supranormal Left Ventricular Ejection Fraction, Concentric Remodeling, and Long-Term Survival.JACC. Asia · 2024Article
- A deep learning transformer model predicts high rates of undiagnosed rare disease in large electronic health systems.medRxiv : the preprint server for health sciences · 2023Article
- Clinical Implication of Supra-Normal Left Ventricular Ejection Fraction in Patients Undergoing Transcatheter Aortic Valve Replacement.Journal of clinical medicine · 2023Article
- Missense Genetic Variation of ICAM1 and Incident Heart Failure.Journal of cardiac failure · 2023Article
- Aortic flow is associated with aging and exercise capacity.European heart journal open · 2023Article
- Heart failure: an update from the last years and a look at the near future.ESC heart failure · 2022Review
- Prognosis of patients with supranormal ejection fraction undergoing percutaneous aortic valve replacement.REC, interventional cardiologyArticle
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
aimsIndividuals with supranormal left ventricular ejection fraction (snLVEF; LVEF >70%) have increased mortality. However, the genetic and phenotypic profile of snLVEF remains unknown. This study aimed to determine the relationship of both snLVEF genetic risk and phenotype with survival and underdiagnosed heart failure (HF). METHODS AND
resultsA snLVEF genetic risk score (GRS) was applied and cases of snLVEF were identified in 486 754 individuals across two population-based cohorts (BioMe Biobank and UK Biobank). The snLVEF GRS and phenotype were evaluated for association with survival, as well as HF diagnosis, markers, symptoms, and medications. Of 486 754 participants, the median age was 58 years, 20 069 (4.1%) died, and 10 088 (2.1%) had diagnosed HF. Both snLVEF GRS (hazard ratio [HR] 1.1 for top 10% vs. bottom 10% GRS; p = 0.002) and phenotype (HR 1.4; p = 0.003) were associated with increased all-cause mortality. Both snLVEF GRS and phenotype were associated with reduced HF diagnosis (odds ratio [OR] 0.97 and OR 0.63, respectively; both p ≤0.002). However, the snLVEF GRS and phenotype were both associated with elevated brain natriuretic peptide (BNP) levels (146 and 185 pg/ml increase, respectively; p <0.001), including 268 out of 455 (59%) individuals with snLVEF phenotype who had BNP >100 pg/ml. Among 476 666 participants without HF diagnoses, snLVEF GRS and phenotype were associated with increased HF symptoms (e.g. exertional dyspnoea OR 1.4 and OR 1.3; p <0.003) and HF medications (e.g. loop diuretic OR 1.2 and OR 1.03; p <0.02). Associations were consistent in hypertensive individuals without cardiac comorbidities.
conclusionsGenetic predisposition to and presence of snLVEF are associated with decreased survival and underdiagnosed HF.
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