Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
Irene Mademont-SolerJesus MatesRaquel YottiMaria Angeles EspinosaAlexandra Pérez-SerraAna Isabel Fernandez-AvilaMonica CollIrene MéndezAnna IglesiasBernat Del OlmoHelena RiuróSofía CuencaCatarina AllegueOscar CampuzanoFerran PicóCarles Ferrer-CostaPatricia ÁlvarezSergio CastilloPablo Garcia-PaviaEsther Gonzalez-LopezLaura Padron-BartheAranzazu Díaz de BustamanteMaría Teresa DarnaudeJosé Ignacio González-HeviaJosep BrugadaFrancisco Fernandez-AvilesRamon BrugadaPublished in: PloS one (2017)
A small percentage of HCM cases without point mutations in the 5 main genes are explained by P/LP variants in minor or candidate genes and CNVs. Screening for variants in TTN in HCM patients drastically increases the number of inconclusive tests, and shows a rate of VUS that is similar to patients without structural heart disease, suggesting that this gene should not be analyzed for clinical purposes in HCM.