Effects of mitochondrial disease/dysfunction on pregnancy: A retrospective study

Karaa, Amel; Elsharkawi, Ibrahim; Clapp, Mark A.; Balcells, Cristy

doi:10.1016/j.mito.2018.06.007

Cited by 22 publications

(20 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There is a constant concern that the increased metabolic demands may exacerbate symptoms during pregnancy and a prolonged or strenuous labor might endanger the mother by inducing energy failure. Karaa et al 8 in a retrospective study describe the obstetric history of 103 women (370 pregnancies) with mitochondrial diseases or dysfunctions. Many mitochondrial symptoms aggravated or first appeared during pregnancy: fatigue, exercise intolerance, nausea, cardiovascular related symptoms, constipation, cramps, seizures, headache, muscle weakness, and neuropathy.…”

Section: Discussionmentioning

confidence: 99%

“…The recommendations for management of women with mitochondrial diseases during pregnancy include: evaluation and monitoring by a maternal‐fetal specialist in consultation with a mitochondrial disease expert, careful management of increased mitochondrial symptoms and signs, peripartum fluid and caloric support, adjustment of medications and supplements, and screening for congenital anomalies 8 …”

Section: Discussionmentioning

confidence: 99%

“…A literature search did not reveal any description of a pregnancy in a woman with ACAD9 deficiency. There was scarce information regarding delivery of women with mitochondrial disorders 8,9 . We assumed that prolonged labor could result in an energetic crisis and thus endanger the patient and fetus and therefore an elective Cesarean‐section was planned at 39 weeks.…”

Section: Case Reportmentioning

confidence: 99%

“…Women with inherited metabolic disorders, including those with previously life‐limiting conditions such as ACAD9 deficiency, are reaching childbearing age more often due to advances in early diagnosis and improved pediatric care. It is commonly assumed that mitochondrial diseases can worsen during pregnancy, but the information in the literature is sparse 8,9 . Treatment can be challenging and there are no established guidelines.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

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

et al. 2020

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Case Reportmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

et al. 2020

View full text Add to dashboard Cite

show abstract

“…To our knowledge, there is not a well-characterized association between mitochondrial disorders and the development of new seizures during pregnancy. 8 However, her specific compound heterozygous mutations, a paternally inherited missense variant (p.Arg627Gln) and 2 maternally inherited missense variants present in cis (p.Gly11Asp; Arg852Cys), likely heightened her risk for epilepsy since the maternal variants have been described in patients with epilepsy, and compound heterozygous mutations are associated with more severe epilepsy and shorter survival than homozygous mutations. 7,9 Given the theoretical risk of increasing metabolic demand as pregnancy continues, extensive conversations were held with the patient, family, and obstetrics team with regards to continuing the pregnancy.…”

Section: Discussionmentioning

confidence: 99%

Clinical Reasoning: Refractory status epilepticus in a primigravida

et al. 2019

View full text Add to dashboard Cite

A 29-year-old woman, gravida 1 para 0, 14 weeks pregnant, presented with first seizure of life. Thirty minutes before the seizure, she reported a new mild bifrontal headache and visual changes described as difficulty seeing her right fingers when using her phone. She then had witnessed right arm extension, followed by shaking in bilateral arms and legs for 2 minutes, and bladder incontinence followed by 30 minutes of postictal confusion. Her medical history was notable for ataxia, myoclonus, and foot numbness diagnosed 4 years prior as sensory ataxic neuropathy, dysarthria, and ophthalmoplegia (SANDO) syndrome; whole exome sequencing had confirmed compound heterozygous polymerase gamma (POLG) mutations. Her home medications were amantadine 100 mg BID, coenzyme Q10 100 mg BID, and prenatal multivitamin daily. On assessment, the patient's vital signs were normal and neurologic examination revealed a new right homonymous hemianopia. Her prior baseline examination included normal mental status, end-gaze nystagmus in all directions, mild dysarthria, intermittent myoclonic jerks, dysmetria in all extremities, decreased sensation below the knees, and wide-based gait. Questions for consideration: 1. What is the expected localization of the patient's acute presentation? 2. What is the differential diagnosis? GO TO SECTION 2

show abstract

Pregnancy in MNGIE: a clinical and metabolic honeymoon

Pappalardo

Benoist

Bax

et al. 2020

Ann Clin Transl Neurol

View full text Add to dashboard Cite

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an inherited disease caused by a deficiency in thymidine phosphorylase and characterized by elevated systemic deoxyribonucleotides and gastrointestinal (GI) and neurological manifestations. We report the clinical and biochemical manifestations that were evaluated in a single patient before, during, and after pregnancy, over a period of 7 years. GI symptoms significantly improved, and plasma deoxyribonucleotide concentrations decreased during pregnancy. Within days after delivery, the patient's digestive symptoms recurred, coinciding with a rapid increase in plasma deoxyribonucleotide concentrations. We hypothesize that the clinico-metabolic improvements could be attributed to the enzyme replacement action of the placental thymidine phosphorylase.

show abstract

Effects of mitochondrial disease/dysfunction on pregnancy: A retrospective study

Cited by 22 publications

References 26 publications

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

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

Clinical Reasoning: Refractory status epilepticus in a primigravida

Pregnancy in MNGIE: a clinical and metabolic honeymoon

Contact Info

Product

Resources

About