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TTN-related Dilated Cardiomyopathy — EECC MCQ

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HardCardiomyopathyTTN-related Dilated CardiomyopathyEECC

A 48-year-old woman with DCM (LVEF 40%) undergoes genetic testing which reveals a pathogenic truncating variant in the TTN gene (titin). Her ECG shows no conduction disease. She has no family history of sudden cardiac death. According to the 2023 ESC Cardiomyopathy Guidelines, what is the primary implication of this finding?

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Correct answer: C — TTNtv confirms the genetic aetiology and family screening is recommended, but SCD risk is generally low without additional risk factors

Truncating variants in the TTN gene (TTNtv) are the most common monogenic cause of DCM, found in approximately 15-25% of familial DCM cases. The 2023 ESC Cardiomyopathy Guidelines adopt a genotype-phenotype approach. TTNtv-associated DCM generally has a more favourable prognosis compared to LMNA or FLNC cardiomyopathies, with lower rates of SCD. However, it is not entirely benign — LV recovery on GDMT is possible but not guaranteed. First-degree relatives should be offered cascade genetic testing and clinical screening. ICD decisions should follow standard HFrEF criteria rather than being primarily driven by the TTN genotype alone.

Reference: ESC (2023): Guidelines on Cardiomyopathies