Open AccessSuccessful pregnancy in a patient with mitochondrial cardiomyopathy due to ACAD9 deficiency
Author(s) -
JacobiPolishook Talia,
YoshaOrpaz Naama,
Sagi Yair,
Lev Dorit,
LermanSagie Tally
Publication year - 2020
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12157
Subject(s) - lactic acidosis , medicine , cardiomyopathy , mitochondrial disease , mitochondrial myopathy , muscle biopsy , myopathy , respiratory chain , mitochondrial respiratory chain , pregnancy , hypertrophic cardiomyopathy , exercise intolerance , pediatrics , mitochondrial dna , cardiology , mitochondrion , heart failure , biopsy , genetics , biology , gene
Acyl‐CoA dehydrogenase family member 9 (ACAD9) is an enzyme essential for the assembly of mitochondrial respiratory chain complex I. ACAD9 deficiency can cause lactic acidosis, myopathy, cardiomyopathy, intellectual disability, and early demise. We present a patient with mitochondrial myopathy, hypertrophic cardiomyopathy, and epilepsy due to recessive ACAD9 mutations. A muscle biopsy depicted ragged red fibers, and decreased activity of complex I of the respiratory chain. Treatment with riboflavin was initiated at the age of 4 years due to complex I deficiency (before the genetic diagnosis), resulting in symptomatic improvement of the cardiomyopathy, exercise intolerance, and lactate levels. A novel homozygous ACAD9 mutation was found: c.398G>A; p.Ser133Asn at the age of 23 years. Three years later she sustained a normal pregnancy, and gave birth to a healthy baby girl delivered by an elective Cesarean section. To the best of our knowledge, this is the first description of a successful pregnancy and delivery in a patient with this rare mitochondrial disease.