Abstract | 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: RESULTS: There were 17 males and 11 females; their mean age at diagnosis was 39 years (range, 1-80 years). The major clinical presentations included syncope, palpitations, and abnormal electrocardiography findings. A family history was present in 13 (46%) patients. There were 26 different heterozygous mutations detected, of which six were novel-two in SCN5A (NM_198056.2:c.429del and c.2024-11T>A), two in MYBPC3 (NM_000256.3:c.906-22G>A and c.2105_2106del), and two in LMNA (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.
|
Authors | C M Mak, S Pl Chen, N S Mok, W K Siu, H Hc Lee, C K Ching, P T Tsui, N C Fong, Y P Yuen, W T Poon, C Y Law, Y K Chong, Y W Chan, T C Yung, K Yy Fan, C W Lam |
Journal | Hong Kong medical journal = Xianggang yi xue za zhi
(Hong Kong Med J)
Vol. 24
Issue 4
Pg. 340-349
(08 2018)
ISSN: 1024-2708 [Print] China |
PMID | 29497013
(Publication Type: Journal Article)
|
Topics |
- Adolescent
- Adult
- Aged, 80 and over
- Cardiomyopathies
(diagnosis, genetics)
- Channelopathies
(diagnosis, genetics)
- Child
- Electrocardiography
- Female
- Genetic Testing
(statistics & numerical data)
- Heterozygote
- Hong Kong
- Humans
- Infant
- Male
- Middle Aged
- Mutation
- Phenotype
- Young Adult
|