Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790

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Paula Goldenberg Author

PaulaGoldenberg@gmail.com

Subjects of specialization
Cardiomyopathy

Affiliation
Medical Genetics, Division of Pediatrics, Massachusetts General Hospital, Boston, MA, USA

Biography

Paula Goldenberg belongs to Medical Genetics, Division of Pediatrics  intrested in the field Cardiomyopathy; Noncompaction; Cardiac malformation; Mutation; RASopathy from  Massachusetts General Hospital, Boston, MA, 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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