Familial Left Ventricular Noncompaction And Conduction Abnormalities. A Case Report with Genetic Mutation
- *Corresponding Author:
- Ahmed Mokhtar
Department of Cardiology, Alexandria University, Egypt
Tel: +20 100 962 3118
E-mail: [email protected]
Received Date: April 27, 2017; Accepted Date: June 22, 2017; Published Date: June 27, 2017
Citation: Mokhtar A, Mahrous N, Elamin A, Nawar M (2017) Familial Left Ventricular Noncompaction And Conduction Abnormalities. A Case Report with Genetic Mutation. J Clin Case Rep 7:980. doi: 10.4172/2165-7920.1000980
Copyright: © 2017 Mokhtar A, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Background: Left Ventricular Noncompaction (LVNC) is a rare form of cardiomyopathy resulting from arrest in the normal endomyocardial compaction, characterized by the presence of prominent trabeculations and deep intertrabecular recesses. Clinical manifestations range from being asymptomatic, heart failure, arrhythmia and thromboembolism. Atrioventricular block (AV) block is a rare presentation.
Materials and Methods: In a patient presented with complete heart block and LVNC genomic DNA of thirteen genes associated with LVNC was analyzed by sequencing for exons, splicing and flanking regions. Novel variants were confirmed by independent Sanger sequencing. A novel variant in the Myosin Heavy Chain 7 gene (MHC7) was identified, alongside with two other variants in the (MHC7) and Vinculin (VCL).
Conclusion: The Genetic basis association between LVNC and heart block has been rarely reported, here we review the literature of similarly published cases.