ACC CardiaCast The Pathophysiology Underlying HF Genotypes: Advances in Diagnosis and Management
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Oct 30, 2025 Justin M. Vader, MD, FACC, is a professor of medicine at Washington University and a leading expert in genetic heart failure. In this engaging discussion, he explores the complexities of heart failure genotypes and the crucial role of imaging and early genetic testing. Justin emphasizes the importance of recognizing diagnostic limitations to avoid misclassifications. The conversation also highlights how genetic factors influence treatment decisions, paving the way for advancements in precision medicine for heart failure management.
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Phenotype-Based Diagnostic Framework
- Heart failure is a broad clinical syndrome with overlapping phenotypes and distinct proximal causes.
- Classify patients by morphology (dilated, thick, normal-sized with arrhythmia) to guide diagnosis.
Always Take A Three-Generation Family History
- Take a meticulous three-generation family history for suspected familial cardiomyopathy.
- Offer genetic testing and cascade testing when indicated to improve diagnostic accuracy and family counseling.
Genetic Testing Yield Is Consistent
- Genetic testing is underutilized despite similar yield across centers.
- You cannot reliably predict genetic cardiomyopathy without testing, so broaden testing when suspicion exists.