Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Julie HathawayKrista HeliöInka SaarinenJonna TallilaEija H SeppäläSari TuupanenHannu TurpeinenTiia Kangas-KontioJennifer SchleitJohanna TommiskaVille KytöläMiko ValoriMikko MuonaJohanna SistonenMassimiliano GentilePertteli SalmenperäSamuel MyllykangasJussi PaananenTero-Pekka AlastaloTiina HeliöJuha Koskenvuo

Published in: BMC cardiovascular disorders (2021)

The diagnostic yield of genetic testing in this heterogeneous cohort of patients with a clinical suspicion of HCM is lower than what has been reported in well-characterized patient cohorts. We report the highest yield of diagnostic variants in the RASopathy genes identified in a laboratory cohort of HCM patients to date. The spectrum of genes implicated in this unselected cohort highlights the importance of pre-and post-test counseling when offering genetic testing to the broad HCM population.

Keyphrases

end stage renal disease
ejection fraction
hypertrophic cardiomyopathy
newly diagnosed
chronic kidney disease
peritoneal dialysis
genome wide
dna methylation
patient reported outcomes
antiretroviral therapy