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: C. Hjalmarsson, , N. Bergh, A. Thoren, J.L. Sloane, I. Manoli, C. Venditti, G. Dellgren Source Type: research
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