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A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review.

Cátia FerreiraRui BaptistaTiago TeixeiraLino Gonçalves
Published in: BMC cardiovascular disorders (2022)
We report a case of SCD and an autosomal dominant mutation in DSP that causes arrhythmogenic dilated cardiomyopathy/AC. Like the recessive mutation in DSP known to cause Carvajal syndrome, Arg160Ter may be associated with cutaneous abnormalities.
Keyphrases
  • case report
  • intellectual disability