Clinical & Experimental Cardiology
Open Access

Stephanie M. Ware

Publications

• Review Article
  New Genetic Insights into Congenital Heart Disease
  Author(s): Stephanie M. Ware and John Lynn JefferiesStephanie M. Ware and John Lynn Jefferies
  
  There has been remarkable progress in understanding the genetic basis of cardiovascular malformations. Chromosome microarray analysis has provided a new tool to understand the genetic basis of syndromic cardiovascular malformations resulting from microdeletion or microduplication of genetic material, allowing the delineation of new syndromes. Improvements in sequencing technology have led to increasingly comprehensive testing for aortopathy, cardiomyopathy, single gene syndromic disorders, and Mendelian-inherited congenital heart disease. Understanding the genetic etiology for these disorders has improved their clinical recognition and management and led to new guidelines for treatment and family-based diagnosis and surveillance. These new discoveries have also expanded our understanding of the contribution of genetic variation, susceptibility alleles, and epigenetics to isolated cong.. View More»
  DOI: 10.4172/2155-9880.S8-003

  Abstract PDF

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