An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease
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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2016-07-01
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| Series: | Journal of Investigative Medicine High Impact Case Reports |
| Online Access: | https://doi.org/10.1177/2324709616658495 |
| _version_ | 1819315650134278144 |
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| author | Ragesh Panikkath MD Deepa Panikkath MD S. Sanchez-Iglesias PhD D Araujo-Vilar MD, PhD Joaquin Lado-Abeal MD, PhD |
| author_facet | Ragesh Panikkath MD Deepa Panikkath MD S. Sanchez-Iglesias PhD D Araujo-Vilar MD, PhD Joaquin Lado-Abeal MD, PhD |
| author_sort | Ragesh Panikkath MD |
| collection | DOAJ |
| description | 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 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. |
| first_indexed | 2024-12-24T10:03:28Z |
| format | Article |
| id | doaj.art-5ab543284acc44449c7b4229fa0c85f6 |
| institution | Directory Open Access Journal |
| issn | 2324-7096 |
| language | English |
| last_indexed | 2024-12-24T10:03:28Z |
| publishDate | 2016-07-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Journal of Investigative Medicine High Impact Case Reports |
| spelling | doaj.art-5ab543284acc44449c7b4229fa0c85f62022-12-21T17:00:55ZengSAGE PublishingJournal of Investigative Medicine High Impact Case Reports2324-70962016-07-01410.1177/232470961665849510.1177_2324709616658495An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System DiseaseRagesh Panikkath MD0Deepa Panikkath MD1S. Sanchez-Iglesias PhD2D Araujo-Vilar MD, PhD3Joaquin Lado-Abeal MD, PhD4Texas Tech University Health Sciences Center, Lubbock, TX, USATexas Tech University Health Sciences Center, Lubbock, TX, USAComplexo Hospitalario de Santiago de Compostela, University of Santiago, Santiago, SpainComplexo Hospitalario de Santiago de Compostela, University of Santiago, Santiago, SpainComplexo Hospitalario de Santiago de Compostela, University of Santiago, Santiago, SpainA 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 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.https://doi.org/10.1177/2324709616658495 |
| spellingShingle | Ragesh Panikkath MD Deepa Panikkath MD S. Sanchez-Iglesias PhD D Araujo-Vilar MD, PhD Joaquin Lado-Abeal MD, PhD An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease Journal of Investigative Medicine High Impact Case Reports |
| title | An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease |
| title_full | An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease |
| title_fullStr | An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease |
| title_full_unstemmed | An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease |
| title_short | An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease |
| title_sort | uncommon association of familial partial lipodystrophy dilated cardiomyopathy and conduction system disease |
| url | https://doi.org/10.1177/2324709616658495 |
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