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Objectives: Autosomal dominant TMEM43-p.S358L mutation encoding for the ER-protein LUMA is a highly malignant fully penetrant missense mutation with a deleterious clinical phenotype causing ARVC5 and unpredictable sudden cardiac death especially in males. Syncopes were reported even in underaged males. In order to understand the disease course and the impact of imaging methods for the identification of the disease onset a close follow up of underaged carriers is of major relevance.

the thoracic and cardiovascular surgeon

Predictive Genotype Testing in Pediatric Healthy Phenotypes with Family History of ARVC-5: Initiation of Early Detection, Future Therapeutic Strategies, or Just Scaring?