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Genetic Testing Practices and Pathological Assessments in Patients With End-stage Heart Failure Undergoing Heart
Elizabeth Silver1, Alessia Argiro2, Sarah S Murray3
1Division of Cardiovascular Medicine, Department of Medicine, University of California, San Diego, La Jolla, CA, USA.
Insights
Genetic testing for end-stage heart failure (ESHF) is underutilized, even with actionable genetic variants found. Improved strategies are needed to increase genetic service uptake in these patients.
Area of Science:
- Cardiology
- Genetics
- Pathology
Background:
- Genetic cardiomyopathies (CMs) are increasingly recognized as causes of end-stage heart failure (ESHF).
- Identifying genetic causes of ESHF is crucial for prognosis and family screening.
- Genetic testing practices in ESHF patients remain understudied.
Purpose of the Study:
- To investigate the uptake of genetic testing and counseling services in patients with ESHF undergoing advanced therapies.
- To identify the prevalence of clinically actionable genetic variants in this population.
- To explore the association between histopathology findings and genetic variants.
Main Methods:
- Retrospective single-center study of 529 ESHF patients undergoing heart transplantation or LVAD implantation (2018-2023).
- Data collected from electronic medical records, including genetic testing and pathology reports.
- Logistic regression used to analyze associations between histology and genetic variants.
Main Results:
- Genetic testing was performed in 54% of patients with nonischemic or mixed CMs.
- Clinically actionable variants were found in 36% of tested patients, with low genetic counselor referral rates (43%).
- Diffuse interstitial fibrosis on pathology was significantly associated with actionable genetic variants (aOR 2.29, P=0.03).
Conclusions:
- Patients with ESHF undergoing advanced therapies show low utilization of genetic testing and counseling services.
- Despite a high burden of genetic disease, genetic services are underused.
- Pathology findings like interstitial fibrosis may indicate underlying genetic causes, suggesting a need for better implementation strategies.
Background:
Genetic cardiomyopathies (CMs) are increasingly recognized as causes of end-stage heart failure (ESHF). Identification of a genetic etiology in ESHF has important prognostic and family implications. However, genetic testing practices are understudied in patients with ESHF.
Methods:
This single-center, retrospective study included consecutive patients with ESHF who underwent heart transplantation (HT) or left ventricular assist device (LVAD) implantation between 2018 and 2023. Data, including genetic testing and pathology reports, were collected from the electronic medical records. Analyses of demographic and clinical characteristics were stratified by genetic-testing completion and the presence of clinically actionable variants. Logistic regression was performed to evaluate for associations between histology findings and genetic variants.
Results:
A total of 529 adult patients (mean age 57 years) were included in the study and were predominantly male (79%, 422/529) and non-white (61%, 322/529). Genetic testing was performed in 54% (196/360) of patients with either nonischemic or mixed CMs. A clinically actionable result was identified in 36% (70/196) of patients, of whom only 43% (30/70) had genetic counselor referrals. The most common genetic variants were TTN (32%, 24/75), MYBPC3 (13%, 10/75) and TTR (11%, 8/75). Clinically actionable variants were identified in patients with known heart failure precipitators such as alcohol use. In multivariable analysis, the presence of interstitial fibrosis, specifically diffuse, on pathology was significantly associated with a clinically actionable variant (aOR 2.29, 95% CI [1.08-4.86]; P = 0.03).
Conclusion:
Patients with ESHF and with nonischemic or mixed CM who were undergoing advanced therapies had low uptakes of genetic services, including testing and counselors, despite high burdens of genetic disease. Pathology findings such as interstitial fibrosis may provide insight into genetic etiology. The underuse of services suggests a need for implementation strategies to improve uptake.
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