Genetic Testing Practices and Pathological Assessments in Patients With End-stage Heart Failure Undergoing Heart...

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.