Stuart D. Katz

BACKGROUND: Clinical genetic evaluation for patients with dilated cardiomyopathy (DCM) is minimally implemented, and models of care are not well defined. To understand current genetic care for DCM, a systematic needs assessment was conducted. METHODS: Principal investigators of the DCM Consortium convened at the Summer Scientific Symposium in July 2025. An electronic needs assessment was conducted among the 24 principal investigators in advance to define current care models by evaluating which genetic evaluation components recommended by the Heart Failure Society of America were conducted, by whom, and the time required for each component. Descriptive statistics were generated to characterize model features. Focus group discussions explored barriers and facilitators to implementing genetic services. RESULTS: Four care models emerged from the principal investigator responses: model 1: Traditional-Synchronous (25%, n=6, requiring the most time per patient); model 2: Traditional-Asynchronous (33%, n=8); model 3: Externally Sourced (17%, n=4); and model 4: Physician/Advanced Practice Provider Conducted (25%, n=6, requiring the least time per patient). All models used genetic testing, whereas other components were implemented variably or not at all. Models 1 (15.7 ± 4.1) and 2 (15.4 ± 3.0) were rated more acceptable than model 4 (9.8 ± 2.9; model 1 versus model 4; P =0.027; model 2 versus model 4; P =0.023). Notably, 88% of principal investigators used genetic information for treatment decisions, including implantable cardioverter defibrillator placement (83%; n=20) and cardiac transplantation (63%; n=15). Major facilitator themes from focus group discussions included having a genetic counselor as part of the heart failure team and developing authoritative standards directing provision of DCM genetic services. Barrier themes included operational challenges, limited personnel, clinician under-recognition, need for new service delivery models, and billing/reimbursement. CONCLUSIONS: DCM genetic care models and components were highly variable across the 24 sites of the DCM Consortium, although all sites discussed similar factors that enable or hinder the implementation of genetic services for DCM. Understanding the basis of practice model variability may provide insight to yield more scalable care approaches.

Background: Clinical genetic evaluation for patients with dilated cardiomyopathy (DCM) is minimally implemented and models of care are not defined. To understand current genetics care for DCM, a systematic needs assessment was conducted. Methods: Principal Investigators (PIs) of the DCM Consortium convened at the Summer Scientific Symposium in July 2025. An electronic needs assessment was collected from the 24 PIs in advance to define current care models by evaluating which Heart Failure Society of America-recommended genetic evaluation components are conducted, by whom, and time required. Descriptive statistics were generated to characterize model features. Focus group discussions explored barriers and facilitators to implementing genetic services. Results: Four care models emerged from the PI responses: 1 – Traditional-Synchronous (25%, n=6, requiring the most time per patient), 2 – Traditional-Asynchronous (33%, n=8), 3 – Externally Sourced (17%, n=4), and 4 – Physician/Advanced Practice Provider Conducted (25%, n=6, requiring the least time per patient). All models used genetic testing, whereas other components were implemented variably or not at all. Models 1 (15.7 ± 4.1) and 2 (15.4 ± 3.0) were rated more acceptable than Model 4 (9.8 ± 2.9; 1 vs 4: p =0.027; 2 vs 4, p =0.023). Notably, 88% of PIs used genetic information for treatment decisions, including ICD placement (83%; n=20) or cardiac transplant (63%; n=15). Major facilitator themes from focus group discussions included having a genetic counselor on the HF team and developing authoritative standards directing provision of DCM genetic services. Barrier themes included operational challenges, limited personnel, clinician under-recognition, need for new service delivery models, and billing/reimbursement. Conclusions: DCM genetic care models and components were highly variable across the 24 sites of the DCM Consortium, even though all sites discussed similar factors that enable or hinder implementing genetic services for DCM. Understanding the basis of practice model variability may provide insight to yield more scalable care approaches. Clinical Perspective: What is new? Four care models to deliver genetic evaluation services for the assessment of dilated cardiomyopathy (DCM) were identified across the 24 sites of the DCM Consortium. Despite universal use of genetic testing and shared barriers and facilitators across sites, substantial variability exists across and within identified model types, and clinical genetic evaluation is not routinely implemented for all patients with DCM. What are the clinical implications? For Heart Failure (HF) centers seeking to implement genetics services for DCM patients and families, the DCM Consortium describes the scaffolding of current care models implemented at HF centers across the US to inform local program development. The incompletely and variably implemented care models highlight the need for a standardized, scalable framework to enhance consistent and equitable integration of clinical genetic evaluation into routine DCM care.

BACKGROUND: Rare variant genetics have been associated with peripartum cardiomyopathy (PPCM), but the role of genetics remains unsettled. The study sought to compare dilated cardiomyopathy (DCM) genetic risk in first-degree relatives (FDRs) of female patients (probands) with DCM or PPCM to gain causal inference, and to assess DCM-relevant rare variant prevalence in DCM/PPCM probands and population controls. METHODS: Clinical and genetic data were analyzed from the DCM Precision Medicine Study. Risk of DCM or partial DCM, where partial DCM was defined as left ventricular enlargement or a left ventricular ejection fraction of <50%, was estimated in 665 FDRs from 452 female probands, all of whom had been pregnant; 67 had PPCM and 385 had DCM; prevalence of pathogenic, likely pathogenic, or uncertain significance variants was estimated among probands. RESULTS: The risk of DCM/partial DCM for FDRs of PPCM probands was similar to that for FDRs of DCM probands (hazard ratio, 0.77 [95% CI, 0.47–1.28]). Estimated DCM prevalence among the lowest-risk FDRs of non-Hispanic European ancestry probands with PPCM (7.0% [95% CI, 0%–14.1%] females, 9.0% [95% CI, 1.6%–16.3%] males) exceeded population estimates from a UK Biobank study (0.30% females, 0.63% males). Estimated prevalences of a pathogenic, likely pathogenic, or uncertain significance variant among African ancestry and European ancestry probands with PPCM were 55.4% (95% CI, 33.1%–77.7%) and 66.0% (95% CI, 38.6%–93.3%), respectively. The estimated prevalence of pathogenic/likely pathogenic variants among European ancestry PPCM probands (26.6% [95% CI, 12.6%–40.6%]) exceeded a population estimate from a UK Biobank study (0.6%). CONCLUSIONS: The risk of DCM/partial DCM among FDRs was similar regardless of whether their probands had PPCM or DCM. Also, DCM-relevant rare variant findings for females with PPCM or DCM were similar and greater than in population controls, suggesting a similar causal basis for PPCM and DCM. These findings underscore the need for genetic evaluations in all patients with PPCM. REGISTRATION: URL: https://www.clinicaltrials.gov ; Unique identifier: NCT03037632.

Aims: To describe management of life with a left ventricular assist device (LVAD) by patients and caregivers and to determine the fit of self- and family management as a guiding concept in LVAD research. Methods and results: We applied dimensional analysis techniques to this concept analysis, beginning with a literature search (2010–25) of PubMed, CINAHL, Embase, PsycINFO, and Web of Science. Two reviewers screened and analysed 28 articles capturing perspectives on daily LVAD management among patients, caregivers, and healthcare professionals. Fourteen studies were qualitative, 12 were quantitative, and 2 were mixed methods. We identified five dimensions of patient and family management of LVAD therapy: patient facilitators and barriers; caregiver facilitators and barriers; processes of self- and family management; clinician facilitators and barriers/processes; and outcomes. These dimensions align with the concept of self- and family management and with core components of the Middle Range Theory of Self- and Family Management of Chronic Illness. Conclusion: This dimensional concept analysis advances understanding of managing life with an LVAD by clarifying the collaborative roles of patients, caregivers, LVAD coordinators, and other healthcare professionals. Our analysis supports the use of self- and family management as a guiding concept and the application of the Middle Range Theory of Self- and Family Management of Chronic Illness in LVAD research. A new conceptual definition of LVAD self- and family management reflects this theoretical grounding. Our work offers direction for future research, clinical practice, and education aimed at improving outcomes for patients and caregivers managing life with an LVAD.

Ischemic heart disease is the leading cause of heart failure with reduced ejection fraction in the developed world. An evolution of background medical therapy over the past decade has spurred improvement in symptoms and a reduction in morbidity and mortality with ischemic cardiomyopathy. However, there is still ongoing debate about the role and impact of revascularization. Much of the societal guidance regarding revascularization with coronary artery bypass grafting in ischemic cardiomyopathy comes from the STICH trial (Surgical Treatment for Ischemic Heart Failure) which predates improvements in medical therapy. More recently, the REVIVED-BCIS2 trial (Revascularization for Ischemic Ventricular Dysfunction-British Cardiovascular Intervention Society) failed to show a benefit of percutaneous coronary intervention on heart failure hospitalization and mortality in ischemic cardiomyopathy over contemporary medical therapy alone. Yet, there are outstanding questions regarding the role and modality of revascularization required to improve outcomes. We review current data and future directions in the management of ischemic cardiomyopathy and the potential role of revascularization.

Background: Patients with heart failure (HF) often have difficulty obtaining life‐saving medications due to coverage barriers, such as prior authorizations and high out‐of‐pocket costs. To promote better coverage for high value therapies and inform policymakers about cost effectiveness, the American Heart Association/American College of Cardiology/Heart Failure Society of America added Value Statements to HF guidelines. We assessed whether these guidelines influenced Medicare drug coverage policies for 2 life‐saving, costly HF medications: angiotensin receptor neprilysin inhibitors (ARNI–guideline “high value”) and sodium glucose cotransporter‐2 inhibitors (SGLT2i–guideline “intermediate value”). Methods: We performed an observational study using Medicare prescription drug plan formulary files from April 2020 to April 2023 to separately assess for changes in coverage barriers to ARNI and SGLT2i after Value Statement publication (April 2022), and subsequent Medicare plan online update (October 2022). The primary outcome was the percentage of plans each month with any barrier to drug coverage (prior authorizations, tier ≥3 out‐of‐pocket cost‐sharing, step therapy, or no coverage). Analyses used interrupted time series and difference‐in‐differences approaches. Difference‐in‐differences analyses used direct oral anticoagulants as a control due to their comparable cost and use as ARNI and SGLT2i, but without a Value Statement. Results: Among 7396 Medicare drug plans, monthly rates of any coverage barrier ranged from 94.3% to 97.4% for ARNI and 93.2% to 96.6% for SGLT2i. Most barriers were due to tier ≥3 out‐of‐pocket cost‐sharing requirements (ARNI: 94.3%–95.8%; SGLT2i: 93.2%–95.6%). Coverage barriers remained stable in April 2022 and declined slightly in October 2022. In difference‐in‐differences analyses, the presence of a Value Statement was associated with a ~1 percentage point decline in coverage barriers for both ARNI (difference‐in‐differences estimate, −1.07% [95% CI, −1.44% to −0.70%]) and SGLT2i (−1.32% [95% CI, −1.63% to −1.00%]). Conclusions: Coverage barriers to ARNI and SGLT2i were common and changed only slightly after publication of Value Statements in HF guidelines. There is a critical need for robust strategies to improve access to life‐saving HF medications.

Clinical genetic evaluation of dilated cardiomyopathy (DCM) is implemented variably or not at all. Identifying needs and barriers to genetic evaluations will enable strategies to enhance precision medicine care. Cardiologist investigators of the DCM Consortium from US advanced heart failure/transplant (HF/TX) programs conducted an online survey in June 2024 to collect demographics, training, program characteristics, genetic evaluation practices, and implementation needs for DCM. An in-person discussion followed. Twenty-five cardiologists (28% female, 12% Hispanic, 68% White) participated in the survey and 15 in the discussion; genetics training backgrounds varied greatly. Clinical genetic testing for DCM was conducted at all institutions with annual patient uptake ranging from 5%-70% (median 25%). Thirteen respondents (52%) did not use selection criteria for offering testing in their personal practice whereas others selected patients based on specific clinical and family history data. Eight (32%) ordered testing by themselves, and the remainder had testing managed mostly by a genetic counselor or others with genetic expertise (16/17; 94%). Six themes were distilled from open-ended responses, including access to genetics services, navigating uncertainty, knowledge needs, cost concerns, family-based care barriers, and institutional infrastructure limitations. Following an in-person discussion, four areas were identified for focused effort: improved reimbursement for genetic services, genetic counselor integration with HF/TX teams, improved provider education resources, and more research to find missing heritability and to resolve uncertain results. This needs assessment of the DCM Consortium underscores the implementation challenges in the provision of DCM genetic evaluations in HF/TX programs. Targeted plans to facilitate precision medicine for DCM are needed.

BACKGROUND: Previous studies have speculated that a viral infection may act as a trigger in the development of idiopathic dilated cardiomyopathy (DCM) among individuals genetically at risk. This study aims to describe the frequency of patients with DCM who reported experiencing symptoms of flu-like illness before their DCM diagnosis and to examine if this experience modified the association between genetics and DCM. METHODS: We analyzed data from the family-based cross-sectional DCM Study conducted between 2016 and 2021. Self-reported symptoms of flu-like illness proximal to DCM diagnosis were obtained from patient interviews. Exome sequencing identified rare variants (pathogenic, likely pathogenic, or variant of uncertain significance) in DCM genes. In a case-only design, logistic mixed models were used to examine if flu-like illness modified the effect of these rare variants on DCM risk. Firth logistic regression was used to examine if flu-like illness modified the effect of each of 13 400 141 common autosomal variants (minor allele frequency ≥1%) on DCM risk. RESULTS: Of 1164 patients with DCM, 30.2% reported symptoms of flu-like illness proximal to DCM diagnosis. The percentage of patients with antecedent flu-like illness by variant classification was 30.0% for pathogenic/likely pathogenic, 29.6% for variant of uncertain significance only, and 30.0% for no pathogenic/likely pathogenic/variant of uncertain significance. Antecedent flu-like illness was not found to modify the effect of carrying any pathogenic, likely pathogenic, or variant of uncertain significance variants on DCM risk (interaction relative risk, 0.9 [95% CI, 0.7–1.3]). However, significant modification of the effect of rs2102158 (3q24) by antecedent flu-like illness ( P =2.74×10 ⁻⁸ ) was identified by case-only genome-wide association study. CONCLUSIONS: Approximately one-third of patients with DCM experienced flu-like illness symptoms before DCM diagnosis. We did not find evidence that a flu-like illness modified the effect of rare variants on DCM risk; however, our genome-wide association study analysis suggested that flu-like illness may modify the effect of a common variant on DCM risk. REGISTRATION: URL: https://www.clinicaltrials.gov ; Unique identifier: NCT03037632.