RT Journal Article
T1 An uncommon association of familial partial lipodystrophy, dilated cardiomyopathy, and conduction system disease
A1 Panikkath, Ragesh
A1 Panikkath, Deepa
A1 Sánchez Iglesias, Sofía
A1 Lado Abeal, José Joaquín
A1 Araujo-Vilar, David
K1 Familial partial lipodystrophy
K1 Lipodystrophy
K1 Cardiomyopathy
K1 Conduction disorders
AB 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 exon 8 (c.1444C>T) causing amino acid change, p.R482W. She later developed severe coronary artery disease requiring multiple percutaneous coronary interventions and coronary artery bypass surgery. She was later diagnosed with diabetes, primary hyperparathyroidism, and euthyroid multinodular goiter.She had sinus nodal and atrioventricular nodal disease and had an implantable cardioverter defibrillator implantation due to persistent left ventricular dysfunction. The device eroded through the skin few months after implantation and needed a reimplant on the contralateral side. She had atrial flutter requiring ablation. This patient with FPLD2 had most of the reported cardiac complications of FPLD2. This case is presented to improve the awareness of the presentation of this disease among cardiologists and internists.
PB SAGE
YR 2016
FD 2016
LK http://hdl.handle.net/10347/32045
UL http://hdl.handle.net/10347/32045
LA eng
NO Panikkath R, Panikkath D, Sanchez-Iglesias S, Araujo-Vilar D, Lado-Abeal J. An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease. Journal of Investigative Medicine High Impact Case Reports. 2016;4(3). doi:10.1177/2324709616658495
NO The author(s) received no financial support for the research, authorship, and/or publication of this article.
DS Minerva
RD 28 abr 2026