作者
Ragesh Panikkath, Deepa Panikkath, Sofía Sánchez-Iglesias, D Araujo-Vilar, Joaquin Lado-Abeal
发表日期
2016/7
期刊
Journal of Investigative Medicine High Impact Case Reports
卷号
4
期号
3
页码范围
2324709616658495
出版商
SAGE Publications
简介
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 re-implant on the contralateral side. She had atrial flutter …
引用总数
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学术搜索中的文章
R Panikkath, D Panikkath, S Sánchez-Iglesias… - Journal of Investigative Medicine High Impact Case …, 2016