TY  - JOUR
AU  - Morrison, Adam
AU  - Gajarski, Robert
AU  - Hodge, Ashley
AU  - Fitzgerald-Butt, Sara
AU  - Baker, Peter
AU  - McConnell, Patrick
AU  - Nandi, Deipanjan
PY  - 2020
DA  - 2020/03/26
TI  - Pediatric Mixed Left Ventricular Non-Compaction and Restrictive Cardiomyopathy Bridged to Heart Transplant with Ventricular Assist
JO  - OBM Transplantation
SP  - 105
VL  - 04
IS  - 01
AB  - 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 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.
SN  - 2577-5820
UR  - https://doi.org/10.21926/obm.transplant.2001105
DO  - 10.21926/obm.transplant.2001105
ID  - Morrison2020
ER  -