期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 182, 期 8, 页码 1933-1938出版社
WILEY
DOI: 10.1002/ajmg.a.61626
关键词
erythrokeratoderma; fulminant myocarditis; gap junction protein alpha 1; hyperostosis; hypotrichosis
资金
- Chiba University
- Hamamatsu University School of Medicine
- Japan Society for the Promotion of Science [JP16H05160, JP16K09975]
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.
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