Accuracy of Clinical Diagnosis in Advanced Heart Failure Patients Undergoing Transplantation and Impact of Genetic Testing

Purpose: Genetic testing in cardiomyopathy patients can improve diagnostic precision, tailor therapeutic interventions and aid prognostication. Results may have implications for relatives. Cardiomyopathy genetic testing was commissioned in 2018 in the UK. In heart transplant patients, we examined concordance between clinical and histological phenotype, yield of genetic testing and impact of pathogenic mutation on diagnosis.

Source: The Journal of Heart and Lung Transplantation - April 1, 2024 Category: Transplant Surgery Authors: , S. Mathai, C. Papadopoulou, S. Preston, M. Goddard, S. Bhagra, C. Lewis, L. Martinez Marin, S. Pettit, J. Parameshwar, A. Kydd Source Type: research