JIMD Reports (Nov 2020)

Successful pregnancy in a patient with mitochondrial cardiomyopathy due to ACAD9 deficiency

  • Talia Jacobi‐Polishook,
  • Naama Yosha‐Orpaz,
  • Yair Sagi,
  • Dorit Lev,
  • Tally Lerman‐Sagie

DOI
https://doi.org/10.1002/jmd2.12157
Journal volume & issue
Vol. 56, no. 1
pp. 9 – 13

Abstract

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Abstract 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.

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