Abstract A case of a 15-year-old female patient with acute heart failure due to non-compaction cardiomyopathy and hereditary anaemia (hereditary spherocytic elliptocytosis) requiring ventricular assist device implantation as a bridge to transplantation is presented. The possible effects of mechanical stress on erythrocytes potentially induced by mechanical circulatory support remains unclear, but it may lead to haemolytic crisis in patients suffering from hereditary anaemia. In our case, ventricular assist device therapy was feasible, and haematological complications did not occur within 6 weeks of bridging our patient to heart transplantation. Transplantation, Non-compaction, Left ventricular assist device, Hereditary spherocytosis INTRODUCTION Cardiomyopathy may be associated with several genetic disorders. Hereditary spherocytosis (HS) is one of the most commonly inherited forms of anaemia in Europe . HS leads to a reduction in elastic deformability and subsequently to an increased depletion of red blood cells, especially in case of inflammation. So far, little is known about the relationship between cardiomyopathy and HS. Non-compaction cardiomyopathy (NCCM) is a rare genetic disorder with various manifestations with distinct myocardial trabecularization, leading to ventricular impairment, arrhythmias and a high risk of thromboembolism. A case of a patient with HS and non-compaction cardiomyopathy and a case of heart transplantation in a young patient with HS have been reported [2, 3]. This is, as far as we know, the first report of a patient with NCCM and hereditary spherocytic elliptocytosis (HS/HE, subform of HS) that was bridged to heart transplantation with left ventricular assist device (LVAD) support. CASE REPORT A 15-year-old female patient was admitted to the paediatric department with cardiac decompensation (reduced general condition, dyspnoea, ascites and pleural effusion). Medical history included premature birth and inherited anaemia (HS/HE, with a history of cholecystectomy, recurrent blood transfusion and intermittent jaundice). The patient’s grandmother, father and brother were also affected by this inherited form of haemolytic anaemia with various manifestations. Transthoracic echocardiography showed a biventricular massive reduction in cardiac function, and NCCM was diagnosed (left ventricular ejection fraction <10%, TAPSE 6 mm and MAPSE 4 mm). Because of biventricular thrombus formation, therapeutic anticoagulation was started. Under high-dose diuretics, inotropes and extended heart failure medication, only slight stabilization was achieved. After exclusion of relevant comorbidities, the patient was listed for heart transplantation with a high-urgency status at Eurotransplant International Foundation. Because of continuous progression of heart failure and signs of secondary organ failure, further therapeutic options were necessary. No matching donor organ could be offered to our patient, and mechanical circulatory support as bridge to transplantation remained the sole relevant option. Although conventional heart surgery with the use of cardiopulmonary bypass may induce a systemic inflammation and shear stress, it may also provoke haemolytic crisis, especially in patients with HS. Further, the influence of long-term mechanical circulatory support, such as extracorporeal mechanical support or LVAD therapy, remains unclear. The mechanical stress on erythrocytes in continuous-flow assist device pumps may be comparable to those in HS/HE patients after mechanical heart valve implantation, in which a traumatic damage with fragmentation and lysis was ascertained . Further information for assessing the risk of haemolytic crisis, facilitated by mechanical stress, was not available. Due to lack of other options for our young patient, the decision for urgent LVAD implantation was made. LVAD (HVAD, HeartWare) implantation and biventricular thrombectomy were performed. Right heart function was severely reduced, but temporary right ventricular assist device implantation was avoidable under extended medical support (high-dose catecholamine, inotropic and inhalative therapy). Intraoperatively no blood transfusion was necessary. The direct postoperative course was aggravated by impeding right ventricular failure, with clinical and echocardiographic stabilization after a few days. Nevertheless, mechanical ventilation was prolonged (extubation on postoperative Day 17). Neurological deficits were not detectable. Relevant bleeding complications requiring surgical re-exploration or larger quantity of transfusion did not occur (total transfusion rate: 12 red cell, 8 thrombocyte and 14 fresh frozen plasma concentrates). Renal replacement therapy was not required. Imminent haemolysis was closely monitored (e.g. lactate dehydrogenase, bilirubin and free plasma haemoglobin) and revealed no signs of relevant haemolysis or haemolytic crisis. In the further course, the recovery of the patient was uneventful. From the outset, the patient was trained in dealing with the LVAD system, and self-dependence was quickly reconstituted. The patient was transplanted 6 weeks after the LVAD implantation. Unfortunately, the postoperative course was severely aggravated by dramatic graft failure. The patient also had multiple organ failure, despite extracorporeal support. The prognosis was poor, further therapy was limited, and she died 2 weeks after transplantation. DISCUSSION The influence of cardiac surgery on erythrocytes in patients suffering from hereditary anaemias, such as HS/HE, using mechanical circulatory support, such as conventional cardiopulmonary bypass, remains unclear. In particular, the effect on patients requiring long-term extracorporeal mechanical circulatory support is unknown. But lacking of therapeutic alternatives in our rapid deteriorating patient made VAD implantation unavoidable. In the expectation of spossible haemolytic crisis, we closely collaborated with our transfusion institute, in order to be prepared for exchange transfusion. Elective splenectomy is considered as a cure for moderate or severe forms of HS, but it is still a matter of debate, because after-splenectomy, the risk for infections, sepsis and stroke is increased [1, 5]. In our case, splenectomy was only considered in cases of acute haemolytic crisis. We aimed to avoid additional temporary right ventricular assist device implantation to reduce further mechanical stress on erythrocytes, even if we might have prolonged sedation and ventilation time retrospectively. CONCLUSION In conclusion, this case report illustrates that the 6-week LVAD therapy in our patient with NCCM and HS/HE was successful without any relevant haematological complications. The long-term impact of mechanical circulatory support in patients with hereditary anaemias, such as HS/HE, cannot be predicted and is a limitation of this case report. Conflict of interest: none declared. REFERENCES 1 Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet 2008; 372: 1411– 26. Google Scholar CrossRef Search ADS PubMed 2 Alter P, Maisch B. Non-compaction cardiomyopathy in an adult with hereditary spherocytosis. Eur J Heart Fail 2007; 9: 98– 9. Google Scholar CrossRef Search ADS PubMed 3 Johnson CE, Schmitz ML, McKamie WA, Edens RE, Imamura M, Jaquiss RDB. Orthotopic heart transplantation in a child with hereditary spherocytosis. Artif Organs 2010; 34: 1154– 6. Google Scholar CrossRef Search ADS PubMed 4 Grigioni M, Caprari P, Tarzia A, D’Avenio G. Prosthetic heart valves’ mechanical loading of red blood cells in patients with hereditary membrane defects. J Biomech 2005; 38: 1557– 65. Google Scholar CrossRef Search ADS PubMed 5 Hargrave JM, Capdeville MJ, Duncan AE, Smith MM, Mauermann WJ, Gallagher PG. CASE 5—2016Complex congenital cardiac surgery in an adult patient with hereditary spherocytosis: avoidance of massive hemolysis associated with extracorporeal circulation in the presence of red blood cell fragility. J Cardiothorac Vasc Anesth 2016; 30: 800– 8. Google Scholar CrossRef Search ADS PubMed © The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.
European Journal of Cardio-Thoracic Surgery – Oxford University Press
Published: Apr 1, 2018
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