A Case with Cobalamin-C-Deficiency and Severe Heart Failure Resolved by LVAD Implantation and Subsequent Heart Transplantation

Introduction: Cobalamin c deficiency (cblC), an inborn error of vitamin B12 metabolism, is caused by mutations of the MMACHC gene. Patients exhibit multisystem involvement with as many as 50% afflicted with various structural heart defects. Severe congestive heart failure (HF) may also occur with a poorly documented clinical course.
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Source Type: research