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PLN Cardiomyopathy — EECC MCQ

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HardCardiomyopathyPLN CardiomyopathyEECC

A 40-year-old woman with DCM (LVEF 35%) undergoes genetic testing revealing a PLN (phospholamban) R14del mutation. Her brother died suddenly at age 35. What is the significance of this finding?

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Correct answer: C — PLN mutations are associated with a high risk of malignant ventricular arrhythmias and SCD, similar to LMNA and FLNC; ICD should be strongly considered even at LVEF >35% given the family history of SCD

PLN (phospholamban) R14del is a founder mutation particularly prevalent in the Netherlands, causing DCM and/or ARVC-like phenotype with a high burden of ventricular arrhythmias and SCD risk. The 2023 ESC Cardiomyopathy Guidelines identify PLN (alongside LMNA, FLNC, and RBM20) as an 'arrhythmogenic genotype' where standard LVEF-based ICD thresholds may underestimate SCD risk. CMR typically shows characteristic posterolateral low-voltage areas and fibrosis. With a family history of SCD in a first-degree relative, the combination of PLN R14del + family SCD provides strong support for prophylactic ICD implantation regardless of LVEF. Cascade genetic testing and cardiac screening of family members is essential.

Reference: ESC (2023): Guidelines on Cardiomyopathies