ABCC9 – Dilated Cardiomyopathy

ABCC9 encodes the sulfonylurea receptor 2 subunit of ATP-sensitive potassium channels and is established in cardiac channelopathies; however, its role in dilated cardiomyopathy (DCM) remains limited. In a site-directed NGS study of 55 unrelated Mexican DCM patients (22 familial, 33 idiopathic), a single P/LP ABCC9 intronic deletion, c.4512+691_4512+701del, was identified in one proband, contributing to a 47.3% overall diagnostic yield but representing only 1.8% of cases and lacking segregation or replication (PMID:32969603). No other ABCC9 variants have been reported recurrently in DCM cohorts, and no functional assays have directly assessed ABCC9 variant impacts on myocardial structure or function in DCM.

Given the absence of additional probands, families, or disease‐relevant functional studies, the clinical validity for ABCC9 in DCM is assessed as Limited. Further genetic and mechanistic investigations are required to clarify any contributory role of ABCC9 variation in dilated cardiomyopathy.

Key Take-home: Current evidence is insufficient to support routine ABCC9 testing in DCM outside research settings.

References

• Molecular genetics & genomic medicine • 2020 • Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing. PMID:32969603

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