Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790

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Stephanie M Ware Author

stware@iu.edu 317 274-8938

Subjects of specialization
Cardiomyopathy

Affiliation
Department of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN., USA

Biography

Stephanie M Ware belongs to Department of Pediatrics and Medical and Molecular Genetics intrested in the field Cardiomyopathy; Noncompaction; Cardiac malformation; Mutation; RASopathy from Indiana University School of Medicine, Indianapolis, IN., USA

Publications

Case Report Open Access

Left Ventricular Noncompaction in Noonan Syndrome

Author(s):

Robert B Hinton, Paula Goldenberg, Richard C Godby, Ashley Parrott, Amy G Shikany, Benjamin J Landis, Jeanne F James, Erin M Miller, Stephanie M Ware

Noonan Syndrome (NS) is a relatively common genetic disorder with complete penetrance and variable expressivity. More than 80% of NS patients have cardiovascular abnormalities, including malformations and cardiomyopathy. However, the occurrence of left ventricular non compaction (LVNC) in a series of NS patients has not been studied. We present a case series of 6 patients from five families with NS and LVNC. Causative NS mutations were identified in 40% of unrelated patients. LVNC was present as an iso... view more»

DOI: 10.4172/2327-5790.1000134

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