Fetal hypoplastic left heart syndrome and maternal liver transplantation for Wilson's disease: a case report

Abstract

Introduction: Liver transplantation currently represents the only curative treatment for Wilson's disease. A lifelong immunosuppressive therapy is mandatory. In spite of increased maternal and fetal risks, pregnancies after liver transplantation have been reported with favorable perinatal outcomes. Hypoplastic left heart syndrome is a spectrum of congenital heart defects that results in the inability to support the systemic circulation. Although its etiology remains elusive, the prognosis of this previously fatal condition has dramatically improved over the last 2 decades mainly due to advances in prenatal diagnosis, surgical technique and perioperative care.

Case presentation: We present a case of a Caucasian 26-year-old woman, gravida 2, para 1 at 36+0 weeks of gestation who had received a liver transplantation due to Wilson's disease and subsequently delivered a child with hypoplastic left heart syndrome.

Conclusions: This coincidence of medical conditions has not been described in the literature so far and its implications for mother and child as well as the pathophysiological mechanisms are discussed on the basis of a literature review.

Figure 1

Prenatal fetal echocardiography showing a four chamber view of the fetus affected with hypoplastic left heart syndrome. Abbreviations: LA, Left atrium; LV, Left ventricle; RA, Right atrium; RV, Right ventricle.

Figure 2

Postnatal transthoracal echocardiography (four chamber view): severe hypoplasia of the left ventricle with endocardial fibroelastosis and hypoplasia of the left atrium are seen. Abbreviations: LA, Left atrium; LV, Left ventricle; RA, Right atrium; RV, Right ventricle.