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Genetic testing in Polynesian long QT syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants.

Heart rhythm - 1 Aug 2020

Winbo Annika, Earle Nikki, Marcondes Luciana, Crawford Jackie, Prosser Debra O, Love Donald R, Merriman Tony R, Cadzow Murray, Stiles Rachael, Donoghue Tom, Stiles Martin K, Hayes Ian, Skinner Jonathan R

Abstract excerpt

BACKGROUND: New Zealand has a multiethnic population and a national cardiac inherited disease registry (Cardiac Inherited Disease Registry New Zealand [CIDRNZ]). Ancestry is reflected in the spectrum and prevalence of genetic variants in long QT syndrome (LQTS). OBJECTIVE: The purpose of this study was to study the genetic testing yield and mutation spectrum of CIDRNZ LQTS probands stratified by self-identified...

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PMID: 32229296
DOI: 10.1016/j.hrthm.2020.03.015

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