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Novel and lethal case of cardiac involvement in DNM1L mitochondrial encephalopathy
Author(s) -
Vandeleur Daron,
Chen Constance V.,
Huang Eric J.,
Connolly Andrew J.,
Sanchez Henry,
MoonGrady Anita J.
Publication year - 2019
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.61371
Subject(s) - hypotonia , microcephaly , cardiogenic shock , medicine , cardiomyopathy , encephalopathy , mitochondrial disease , cardiology , dnm1l , pediatrics , heart failure , mitochondrial dna , biology , genetics , mitochondrion , myocardial infarction , gene , mitochondrial fission
Pathogenic DNM1L mutations cause a mitochondrial disorder with a highly variable clinical phenotype characterized by developmental delay, hypotonia, seizures, microcephaly, poor feeding, ocular abnormalities, and dysarthria. We report the case of an 8‐month‐old female with autosomal dominant, de novo DNM1L c. 1228G>A (p. E410K) mutation and mitochondrial disorder, septo‐optic dysplasia, hypotonia, developmental delay, elevated blood lactate, and severe mitochondrial cardiomyopathy leading to nonischemic congestive heart failure and cardiogenic shock resulting in death. This case suggests that cardiac involvement, previously undescribed, can be a clinically important feature of this syndrome and should be screened for at diagnosis.