Journal of Clinical Case Reports

Noha Mahrous

Publications

• Case Report
  Familial Left Ventricular Noncompaction And Conduction Abnormalities. A Case Report with Genetic Mutation
  Author(s): Ahmed Mokhtar, Noha Mahrous, Ashraf Elamin and Mostafa NawarAhmed Mokhtar, Noha Mahrous, Ashraf Elamin and Mostafa Nawar
  
  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 Geneti.. Read More»
  DOI: 10.4172/2165-7920.1000980

  Abstract PDF