Highlights the genetic heterogeneity of channelopathies and cardiomyopathies in the Hong Kong Chinese population, emphasizing the complexity of genetic interpretation and counseling.
Highlights the complexity of variant interpretation during genetic counseling for Asian patients; leaves open the broader population prevalence.
INTRODUCTION: Hereditary channelopathies and cardiomyopathies are potentially lethal and are clinically and genetically heterogeneous, involving at least 90 genes. Genetic testing can provide an accurate diagnosis, guide treatment, and enable cascade screening. The genetic basis among the Hong Kong Chinese population is largely unknown. We aimed to report on 28 unrelated patients with positive genetic findings detected from January 2006 to December 2015. METHODS: for arrhythmogenic right ventricular dysplasia/cardiomyopathy. RESULTS: (NM_170707.3:c.73C>A and c.1209_1213dup). CONCLUSIONS: We have characterised the genetic heterogeneity in channelopathies and cardiomyopathies among Hong Kong Chinese patients in a 10-year case series. Correct interpretation of genetic findings is difficult and requires expertise and experience. Caution regarding issues of non-penetrance, variable expressivity, phenotype-genotype correlation, susceptibility risk, and digenic inheritance is necessary for genetic counselling and cascade screening.
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Mak et al. (2018) studied this question.
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