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

JIMD Reports
Talia Jacobi-PolishookTally Lerman-Sagie

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.

References

Oct 3, 2002·Biochemical and Biophysical Research Communications·Jia ZhangXuetao Cao
Nov 9, 2010·Nature Genetics·Tobias B HaackHolger Prokisch
Dec 17, 2015·European Journal of Human Genetics : EJHG·Marie ColletAgnès Rötig
May 29, 2016·Molecular Genetics and Metabolism·Joseph P DewulfMarie-Cécile Nassogne
Sep 1, 2011·Obstetric Medicine·R E SayD M Turnbull
Jul 11, 2018·Mitochondrion·Amel KaraaCristy Balcells

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Methods Mentioned

BETA
biopsy
Cesarean section

Software Mentioned

IGV
Variant Studio (
Burrows Wheeler Alignment Tool ( BWA )
Genome Analyzer Pipeline
Mutation Taster

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