Heart Failure with Recovered Ejection Fraction in Patients with Vinculin Loss-of-function Variants

AbstractPredictors of myocardial recovery in heart failure (HF) are poorly understood. We explored if vinculin (VCL) variants are associated with myocardial recovery in dilated cardiomyopathy (DCM). Six infants with DCM with aVCL loss-of-function (LOF) variant were identified. Median age at diagnosis was 2 months, median LV ejection fraction was 24%, and median LV end-diastolic diameterz-score was 10.8. All patients received HF medications. Five patients (83%) showed normalization of LV function at a median age of 2.7 years. One patient progressed to end-stage HF requiring heart transplant. This case series identified a unique phenotype of HF with reduced ejection fraction at presentation that evolved to HF with recovered EF in over 80% of infant DCM cases with LOFVCL variants. These findings have prognostic implications for counseling and management ofVCL-associated DCM and highlight a possible genetic basis for HF with recovered ejection fraction.Graphical abstract
Source: Journal of Cardiovascular Translational Research - Category: Cardiology Source Type: research