Successful mechanical circulatory support for 251 days in a child with intermittent severe neutropenia due to Barth syndrome

Barth syndrome is an X‐linked recessive disorder that is characterized by cardiomyopathy, variable neutropenia, skeletal myopathy, growth delay, and organic aciduria. The cardiac involvement typically results in a high risk of severe heart failure in infancy or early childhood. While Berlin Heart EXCOR is widely accepted as ventricular assistance in pediatric patients with end‐stage cardiac failure, infections remain a frequent and potentially severe complication. Therefore, the extended use of the device in the setting of intermittent or severe neutropenia is challenging. We present the case of a three‐yr child with Barth syndrome who was bridged successfully to transplant with a Berlin Heart EXCOR assist device for eight months (251 days) without major infectious complication, despite several episodes of severe neutropenia. This case demonstrates that prolonged mechanical circulatory support for a patient with neutropenia is feasible without important morbidity, with careful monitoring and a multidisciplinary approach. G‐CSF provides an excellent support in managing neutropenia.

[1]  J. Towbin,et al.  Left Ventricular Noncompaction Cardiomyopathy in Barth Syndrome: An Example of an Undulating Cardiac Phenotype Necessitating Mechanical Circulatory Support as a Bridge to Transplantation , 2012, Pediatric Cardiology.

[2]  K. Brown,et al.  Mechanical bridging to orthotopic heart transplantation in children weighing less than 10 kg: feasibility and limitations. , 2011, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

[3]  R. Wanders,et al.  Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth , 2010, Prenatal diagnosis.

[4]  J. Cassidy,et al.  Changing patterns of bridging to heart transplantation in children. , 2009, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

[5]  M. Elliott,et al.  Successful cardiac transplantation in Barth syndrome – single‐centre experience of four patients , 2007, Pediatric transplantation.

[6]  B. Byrne,et al.  Cardiac and Clinical Phenotype in Barth Syndrome , 2006, Pediatrics.

[7]  B. Byrne,et al.  Ventricular Arrhythmia in the X-linked Cardiomyopathy Barth Syndrome , 2005, Pediatric Cardiology.

[8]  G. Couper,et al.  Infection in permanent circulatory support: experience from the REMATCH trial. , 2004, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

[9]  F. Baas,et al.  Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis. , 2004, Blood.

[10]  M. Durán,et al.  X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update , 2004, American journal of medical genetics. Part A.

[11]  M. Oz,et al.  B-cell activation and allosensitization after left ventricular assist device implantation is due to T-cell activation and CD40 ligand expression. , 2002, Human immunology.

[12]  Silviu Itescu,et al.  Activation-induced T-cell death and immune dysfunction after implantation of left-ventricular assist de vice , 1999, The Lancet.

[13]  P. Vreken,et al.  X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060) , 1999, Journal of Inherited Metabolic Disease.

[14]  M. Elliott,et al.  Heart Transplantation for Barth Syndrome , 1997, Pediatric Cardiology.

[15]  B. Clark,et al.  X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. , 1991, The Journal of pediatrics.

[16]  J. Berden,et al.  An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes , 1983, Journal of the Neurological Sciences.

[17]  P. Lurie,et al.  Endocardial fibroelastosis found on transvascular endomyocardial biospsy in children. , 1979, Archives of pathology & laboratory medicine.

[18]  Sarah Furness,et al.  Bridging children of all sizes to cardiac transplantation: the initial multicenter North American experience with the Berlin Heart EXCOR ventricular assist device. , 2011, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.