Key result
De novo variants in genes associated with the WAVE2 complex and small GTPase signaling were associated with left ventricular outflow tract obstruction lesions and critical to cardiac development.
Why the study?
Genetic variants are the primary driver of congenital heart disease pathogenesis, but the ability to identify causative variants is limited.
Population
2,881 probands with sporadic severe CHD and CRISPR zebrafish models
Authors
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Should not yet change clinical CHD evaluation; leaves open functional validation of WAVE2 in LVOTO.
The WAVE2 complex and small GTPase signaling regulators are critical to cardiac development and are implicated in the pathogenesis of left-sided obstructive congenital heart defects.
Edwards et al. (2020) studied Sporadic severe congenital heart disease (CHD) (n=2,881). De novo variants in WAVE2 complex and small GTPase-mediated signal transduction genes was evaluated on Association with left ventricular outflow tract obstruction lesions and cardiac development. De novo variants in genes associated with the WAVE2 complex and small GTPase signaling were associated with left ventricular outflow tract obstruction lesions and critical to cardiac development.
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