Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data.

Alejandra Restrepo-Cordoba M1, Campuzano O2,3,4, Ripoll-Vera T5, Cobo-Marcos M1,4, Mademont-Soler I2,4, Gámez JM5, Dominguez F1,4,6, Gonzalez-Lopez E1,4,5, Padron-Barthe L1,4,6, Lara-Pezzi E4,6, Alonso-Pulpon L1,4, Brugada R2,3,4,7, Garcia-Pavia P8,9,10,11.

Author information

Abstract

This study sought to determine the usefulness of genetic testing to predict evolution in hypertrophic cardiomyopathy (HCM) and to assess the role of genetic testing in clinical practice. Genetic results of 100 HCM patients tested for mutations in ≥10 HCM-causing genes were evaluated. Patients were classified as with poor (group A) or favourable (group B) clinical course. Forty-five pathogenic mutations (PM) were identified in 28 patients (56 %) from group A and in 23 (46 %) from group B (p = 0.317). Only 40 patients (40 %) exhibited PM that had been previously reported and only 15 (15 %) had PM reported in ≥10 individuals. PM associated with poor prognosis were identified in just five patients from group A (10 %). Genetic findings are not useful to predict prognosis in most HCM patients. By contrast, real-world data reinforce the usefulness of genetic testing to provide genetic counselling and to enable cascade genetic screening.