Severe Dilated Cardiomyopathy with PLACK Syndrome Caused by a Novel Truncating Variant in the CAST Gene

CAST (novel biallelic truncating variant)

Truncating variant (LOF) — cardiac involvement in addition to the classical dermatological picture

Report of a patient carrying a novel biallelic truncating variant in CAST who presents with the classical cutaneous picture of PLACK syndrome together with severe dilated cardiomyopathy. Notable phenotypic expansion for truncating variants of CAST, previously described as an isolated dermatosis.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Significant phenotypic expansion: propose systematic cardiac workup (ECG, echocardiography, cardiac MRI if indicated) in every PLACK patient with a truncating CAST variant, in addition to standard dermatological management.

known gene +0; biallelic +2; isolated case +0; phenotypic expansion (cardiac) +2; clinical impact (surveillance) +1; journal +1