Article
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
BMC cardiovascular disorders - 5 Mar 2021
Hathaway Julie, Heliö Krista, Saarinen Inka, Tallila Jonna, Seppälä Eija H, Tuupanen Sari, Turpeinen Hannu, Kangas-Kontio Tiia, Schleit Jennifer, Tommiska Johanna, Kytölä Ville, Valori Miko, Muona Mikko, Sistonen Johanna, Gentile Massimiliano, Salmenperä Pertteli, Myllykangas Samuel, Paananen Jussi, Alastalo Tero-Pekka, Heliö Tiina, Koskenvuo Juha
Abstract excerpt
BACKGROUND: Genetic testing in hypertrophic cardiomyopathy (HCM) is a published guideline-based recommendation. The diagnostic yield of genetic testing and corresponding HCM-associated genes have been largely documented by single center studies and carefully selected patient cohorts. Our goal was to evaluate the diagnostic yield of genetic testing in a heterogeneous cohort of patients with a clinical suspicion of...
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