| Institution: | 1. Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan;2. https://orcid.org/0000-0003-0076-5882;3. Tadashi Shiohama, Department of Pediatrics, Chiba University Graduate School of Medicine, 1‐8‐1 Inohana, Chuo‐ku, Chiba‐shi, Chiba 260‐8670, Japan.;4. Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan;5. Department of Dermatology, Juntendo University Urayasu Hospital, Urayasu, Japan |
| Abstract: | Pathogenic germline variants in the gap junction protein alpha 1 (GJA1) gene have been identified in several congenital disorders affecting cutaneous, skeletal, and cardiac tissues. Here, we describe a 12‐year‐old patient with a GJA1 c.113G>A, p.(Gly38Glu) variant, who presented with fulminant myocarditis following recurrent generalized erythrokeratoderma. His mother and younger sister had the same clinical manifestations with the same GJA1 variant, but did not have cardiac dysfunction. GJA1 variants have been reported in patients with congenital cardiac malformations, while acute myocarditis in GJA1‐related disorders has not been reported so far. |
