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DSP-related Arrhythmogenic Cardiomyopathy — EECC MCQ

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HardCardiomyopathyDSP-related Arrhythmogenic CardiomyopathyEECC

A 28-year-old man presents with recurrent episodes of exercise-induced palpitations and presyncope. ECG shows low-voltage QRS complexes with T-wave inversion in leads V1-V4. Echocardiography shows a dilated LV (LVEDD 62 mm) with LVEF 42% and mild RV dilatation. CMR shows mid-wall LGE in the interventricular septum in a ring-like pattern. Genetic testing reveals a pathogenic DSP (desmoplakin) truncating variant. What is the most appropriate classification according to the 2023 ESC Guidelines?

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Correct answer: C — Non-dilated left ventricular cardiomyopathy (NDLVC) — although this case has LV dilatation, it represents the dilated phenotype of arrhythmogenic cardiomyopathy

The 2023 ESC Cardiomyopathy Guidelines introduce a phenotype-first approach. This patient has a left-dominant arrhythmogenic cardiomyopathy (ACM) with a DSP truncating variant — a well-recognised genotype-phenotype association. DSP variants frequently cause left-dominant or biventricular disease rather than classic right-dominant ARVC. The ring-like septal LGE pattern is characteristic of DSP-related cardiomyopathy. The guidelines now use the umbrella term 'arrhythmogenic cardiomyopathy' rather than restricting to ARVC, recognising left-dominant and biventricular phenotypes. NDLVC is the new term for patients with LV involvement without meeting traditional DCM criteria, though this patient's LV dilatation places him in the dilated ACM spectrum. DSP variants carry high arrhythmic risk.

Reference: ESC (2023): Guidelines on Cardiomyopathies