An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease

• Main Authors: Ragesh Panikkath MD (Author), Deepa Panikkath MD (Author), S. Sanchez-Iglesias PhD (Author), D Araujo-Vilar MD, PhD (Author), Joaquin Lado-Abeal MD, PhD (Author)
• Format: Book
• Published: SAGE Publishing, 2016-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

A 46-year-old African American woman presented with severe respiratory distress requiring intubation and was diagnosed with nonischemic cardiomyopathy. She had the typical phenotype of familial partial lipodystrophy 2 (FPLD2). Sequence analysis of LMNA gene showed a heterozygous missense mutation at...