DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma

The study involved 49 Finnish participants, with 34 suspected of having Desmoplakin (DSP) cardiomyopathy. A specific variant of the DSP gene, DSP c.6310delA p.(Thr2104Glnfs*12), was found in 29 patients from nine families. This variant is associated with arrhythmogenic cardiomyopathy, increased heart muscle trabeculation, curly hair, and palmoplantar keratoderma (PPK), a skin disorder characterized by thickening of the skin on the palms and soles. All participants with this variant had PPK and curly or wavy hair. The onset of hyperkeratosis, a symptom of PPK, usually occurred before the age of 20 and preceded cardiac symptoms. The study suggests that dermatologic features developing in childhood and adolescence might help recognize these patients at an earlier stage. However, the study does not establish a direct cause-effect relationship and further research is needed.