Case report: Severe hypertrophic cardiomyopathy in a female neonate caused by de novo variant in NDUFB11
Document Type
Case Report
Department
Medical College Pakistan
Abstract
Background: Hypertrophic cardiomyopathy in the neonate has a diverse genetic background, and non-sarcomeric variants may not be identified on commercial genetic testing panels. NDUFB11 is an X-linked mitochondrial Complex I protein and is known to cause histiocytoid cardiomyopathy but has not been described in female infants with hypertrophic cardiomyopathy. We present this first reported case of obstructive hypertrophic cardiomyopathy in a female neonate secondary to a pathogenic variant in NDUFB11.
Case summary: A term female neonate presented following a prenatal diagnosis of biventricular hypertrophy and growth restriction. She developed lactic acidosis after birth and whole-genome sequencing identified a de novo variant in the mitochondrial Complex I gene, NDUFB11 (c.391G>A, p.Glu131Lys). There was progression of left ventricular hypertrophy and obstruction, with rapid development of heart failure symptoms. She was unresponsive to beta-blocker medical therapy and was not suitable for advanced mechanical support. There was subsequent clinical deterioration resulting in death by 3 months of age.
Discussion: Hemizygous variants in NDUFB11 have been associated with hypertrophic cardiomyopathy in male infants previously, and skewed X-linked inactivation likely resulted in the presentation described here in a female infant. This variant was not identifiable by commercial cardiomyopathy panels. We highlight the importance of rapid whole-genome sequencing in cases of infantile hypertrophic cardiomyopathy and the importance of genetic diagnosis in guiding prognosis and care for these individuals.
Publication (Name of Journal)
European Heart Journal - Case Reports
DOI
10.1093/ehjcr/ytae377
Recommended Citation
Tariq, J.,
Townsend, M.,
Parikh, S.,
Bennett, J.
(2024). Case report: Severe hypertrophic cardiomyopathy in a female neonate caused by de novo variant in NDUFB11. European Heart Journal - Case Reports, 8(8).
Available at:
https://ecommons.aku.edu/pakistan_fhs_mc_mc/474
Comments
Pagination are not provided by the author/publisher.