Heart Failure

Spotlight article

Hypertrophic Cardiomyopathy Risk: Genetic Variants and Left Ventricular Wall Thickness in Relatives

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac condition, and family screening is a key recommendation in current guidelines. A retrospective study of 1,230 relatives from 531 families screened at inherited cardiomyopathy clinics in Eastern Denmark (2006-2023) revealed a diagnostic yield of 26% at the initial visit, with an additional 4% of relatives developing HCM during a 7-year follow up. Key predictors for HCM development included carrying a likely pathogenic/pathogenic genetic variant (HR: 4.58) and a baseline left ventricular maximum wall thickness (MWT; HR: 2.21 per mm). Among gene-elusive families, an MWT of ≥10 mm was the strongest threshold for predicting HCM risk, as only 0.4% of relatives with an MWT <10 mm developed HCM during follow up.

 

These findings highlight the value of clinical and genetic screening for identifying at-risk relatives and emphasize the importance of ongoing monitoring, particularly for gene carriers and individuals with an MWT of ≥10 mm. The results may help refine future screening and management guidelines for relatives of HCM patients, ensuring timely intervention and improved outcomes.

 

Reference: Silajdzija E, Rasmus Vissing C, Basse Christensen E, et al. Family Screening in Hypertrophic Cardiomyopathy: Identification of Relatives With Low Yield From Systematic Follow-Up. J Am Coll Cardiol. 2024;84(19):1854-1865. doi: 10.1016/j.jacc.2024.08.011. 

Whitney Gaydos

PA-C, AACC

Physician Associate, Cardiology in Berkeley Heights

Featured article

Exploring the Obesity Paradox and Breakthrough Treatments in Heart Failure

Dr. Javed Butler and Dr. Mikhail Kosiborod explore the "obesity paradox" in heart failure (HF), where higher body mass index in patients with HF, particularly with reduced ejection fraction, correlates with better survival rates. This paradox is linked to the distinction between intentional and unintentional weight loss, with the latter signaling disease progression and worse outcomes. They emphasize that visceral adiposity worsens HF symptoms, physical limitations, and quality of life, especially in preserved ejection fraction HF (HFpEF), through mechanisms like increased plasma volume, pulmonary hypertension, and metabolic dysfunction.

 

The STEP-HFpEF trial, led by Dr. Kosiborod, assessed semaglutide, a GLP-1 receptor agonist, in obesity-related HFpEF, showing significant improvements in symptoms, physical function, weight loss, and reduced inflammation. These results highlight semaglutide's potential to address HFpEF's root causes. A separate trial is underway for HFpEF patients with type 2 diabetes, who face more severe disease and unique challenges. These studies signal promising advancements in treating HFpEF, particularly for patients with obesity and diabetes.

 

Reference: Butler J, Kosiborod, M. Targeting Obesity to Improve HFpEF Outcomes. Medscape. Published May 10, 2024. Accessed November 6, 2024. https://www.medscape.com/viewarticle/1000202?src=dpcs&form=fpf

Viet Le

DMSc, MPAS, PA-C, FACC, FAHA

Heart Failure Crisis: Rising Mortality, Racial Disparities, and Systemic Challenges in the United States

The HF Stats 2024: Heart Failure Epidemiology and Outcomes Statistics reveals alarming trends in heart failure (HF) in the United States. Younger adults (ages 35-64) are increasingly affected, with rising mortality rates that surpass those of older adults. In 2021, HF-related deaths reached 425,147, accounting for 45% of cardiovascular deaths, with a notable surge during the pandemic. Racial disparities persist, with Black, American Indian, and Alaska Native populations experiencing the highest HF mortality rates, particularly among Black individuals under 65. Obesity, hypertension, and clusters of comorbidities further exacerbate HF risks and complicate management.

 

The report highlights systemic challenges, including lagging implementation of guideline-directed medical therapy, contributing to increased mortality and hospitalizations, especially among vulnerable groups. Although HF hospitalization rates briefly declined during the pandemic, long-term trends show steady increases, with Black patients disproportionately impacted. Inconsistent coding practices may underreport HF-related deaths, suggesting the true burden is even higher. These findings underscore the urgent need for improved HF management, equitable healthcare access, and more accurate data reporting.

 

Reference: Concerning Findings in the HF Stats 2024: Heart Failure Epidemiology and Outcomes Statistics. HFSA. Accessed November 6, 2024. https://hfsa.org/concerning-findings-hf-stats-2024-heart-failure-epidemiology-and-outcomes-statistics

Viet Le

DMSc, MPAS, PA-C, FACC, FAHA

The Role of Artificial Intelligence in Heart Failure Management

In a recent commentary, Dr. Michelle Kittleson, a heart failure transplant cardiologist, highlights the transformative potential of artificial intelligence (AI) in heart failure (HF) management. AI, particularly through machine learning, enables advanced pattern recognition and data-driven decision-making. It shows promise in early detection, such as predicting incident HF using electronic health records, which could prompt timely interventions like echocardiograms or peptide assessments. For diagnosis, AI-powered tools improve accuracy and reduce variability in imaging, especially for challenges like HF with preserved ejection fraction (HFpEF). AI also aids in phenotyping HFpEF patients by identifying subgroups based on clinical and imaging parameters, paving the way for personalized therapies.

 

Prognostication remains an area of need, as current AI models face challenges in reliability and consistency. Key barriers include balancing data complexity, ensuring privacy, and overcoming clinician skepticism. Regulatory approvals and clinician education will be critical for successful integration into practice. 

 

Reference: Kittleson, M. From Prevention to Prognosis: AI's Role in Heart Failure. Medscape. Published July 02, 2024. Accessed November 6, 2024. https://www.medscape.com/viewarticle/prevention-prognosis-ais-role-heart-failure-2024a1000byd?src=dpcs&form=fpf

Viet Le

DMSc, MPAS, PA-C, FACC, FAHA

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