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Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant
Author(s) -
Kobayashi Hironobu,
Shiohama Tadashi,
Nakashima Mitsuko,
Saitsu Hirotomo,
Suga Yasushi,
Ebata Ryota,
Shimojo Naoki
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61626
Subject(s) - fulminant , myocarditis , germline , cardiac dysfunction , medicine , pathology , cardiology , gene , biology , heart failure , genetics
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.