Pediatric Mixed Left Ventricular Non-Compaction and Restrictive Cardiomyopathy Bridged to Heart Transplant with Ventricular Assist

Adam K. Morrison, Department of Pediatrics, Atrium Health, Levine Children's Hospital, Charlotte, NC, USA, Robert J. Gajarski, Ashley Hodge, Sara Fitzgerald-Butt, Peter Baker, Patrick M. McConnell, Deipanjan Nandi, Departments of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA, Departments of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA, Department of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA, Departments of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA (+2 others)
2020 OBM Transplantation  
Left ventricular noncompaction cardiomyopathy (LVNC) is a rare form of heritable cardiomyopathy with wide genotypic variability, numerous phenotypic variations, and a wide spectrum of clinical disease from asymptomatic to end stage heart failure. Here, we present a case of a 2-year-old boy who presented to their pediatrician with a cough as a first clinical sign of heart failure, rapidly progressing to severe heart failure. He was found to have mixed LVNC with a restrictive phenotype, a rare
more » ... henotype, a rare phenotype of this form of cardiomyopathy. Eventually, the patient was supported via mechanical circulation with a Berlin Heart EXCOR® ventricular assist device as bridge to successful cardiac transplantation. Genetic testing for inherited cardiomyopathies found a mutation in MYH7 (Arg369Gln), known to be associated with various forms of cardiomyopathy, but has not been reported in restrictive LVNC.
doi:10.21926/obm.transplant.2001105 fatcat:cvuktenxz5andjzjpkgxj64heq