ALPK3: a full spectrum cardiomyopathy gene?
Why the study?
Are heterozygous ALPK3-truncating variants associated with autosomal dominant hypertrophic cardiomyopathy?
Population
2,817 patients with hypertrophic cardiomyopathy, comprising a discovery cohort of 770 probands from the UK…
Comparison
Presence of heterozygous ALPK3-truncating variants vs gnomAD population data, sarcomere-positive HCM…
Design
Editorial
Authors
Discussion
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Implication
Heterozygous ALPK3-truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy in approximately 1.5% of adult-onset cases, supporting the inclusion of ALPK3 in standard HCM genetic testing panels.
Structured PICO
Are heterozygous ALPK3-truncating variants associated with autosomal dominant hypertrophic cardiomyopathy?
P
Population
2,817 patients with hypertrophic cardiomyopathy (HCM), comprising a discovery cohort of 770 probands from the UK and a validation cohort of 2,047 cases from various countries referred for genetic testing.
I
Intervention
Presence of heterozygous ALPK3-truncating variants (ALPK3tv)
C
Comparator
gnomAD population data, sarcomere-positive HCM cases, and sarcomere-negative HCM cases
O
Outcome
Frequency and clinical characteristics of ALPK3-truncating variants in HCM casessurrogate
Heterozygous ALPK3-truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy in approximately 1.5% of adult-onset cases, supporting the inclusion of ALPK3 in standard HCM genetic testing panels.
Limitations
- Findings regarding higher penetrance in South Asian ancestry need to be replicated in larger cohorts
- Limited ALPK3tv case numbers for assessing outcomes like heart failure death and transplantation
Cite This Study
Walsh et al. (2021) studied this question.