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Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery-Dreifuss Muscular Dystrophy - PubMed

Case Reports

Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

Megumi Sato et al. AJP Rep. 2016 Mar.

Abstract

Introduction Autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) is rare compared with other forms of muscular dystrophy and is characterized by cardiac conduction defects. Here, we present the case of a patient diagnosed with AD-EDMD during the first trimester of pregnancy who developed acute preeclampsia and subsequently, congestive heart failure (CHF) following cesarean section. Case A 36-year-old, gravida 0 para 0 woman was diagnosed with AD-EDMD by genetic testing during the first trimester of pregnancy, and she suddenly developed preeclampsia and partial HELLP (hemolytic anemia, elevated liver enzymes, and low platelets) syndrome at 33 weeks of gestation. The patient subsequently developed CHF following cesarean section. Conclusion CHF can occur as a direct result of the cardiac defects arising due to EDMD, and therefore, careful prenatal and postpartum management is recommended for such cases.

Keywords: Emeri–Dreifuss muscular dystrophy; HELLP syndrome; congestive heart failure; preeclampsia.

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Figures

Fig. 1
Fig. 1

Family pedigree. Black squares and circles indicate the patients. The proband is indicated by an arrow. I to IV are generation numbers of the pedigree. IV-2, IV-3, and IV-5 were examined for the responsible gene. Af, atrial fibrillation; AV block, atrioventricular block; CHF, congestive heart failure; ICD, implantable cardioverter–defibrillator; P, probad; PMI, pacemaker implantation; SSS, sick sinus syndrome; VT, ventricular tachycardia.

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