MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach
A 49-year-old man presented with chest pain, dyspnea, and lactic acidosis. Left ventricular hypertrophy and myocardial fibrosis were detected. The sequencing of mitochondrial genome (mtDNA) revealed the presence of A to G mtDNA point mutation at position 3243 (m.3243A>G) in tRNALeu(UUR) gene. Dia...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Case Reports in Cardiology |
| Online Access: | http://dx.doi.org/10.1155/2016/1490181 |
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| author | Sara Seitun Laura Massobrio Anna Rubegni Claudia Nesti Margherita Castiglione Morelli Sara Boccalini Athena Galletto Pregliasco Irilda Budaj Luca Deferrari Gian Marco Rosa Fabrizio Montecucco Alberto Valbusa |
| author_facet | Sara Seitun Laura Massobrio Anna Rubegni Claudia Nesti Margherita Castiglione Morelli Sara Boccalini Athena Galletto Pregliasco Irilda Budaj Luca Deferrari Gian Marco Rosa Fabrizio Montecucco Alberto Valbusa |
| author_sort | Sara Seitun |
| collection | DOAJ |
| description | A 49-year-old man presented with chest pain, dyspnea, and lactic acidosis. Left ventricular hypertrophy and myocardial fibrosis were detected. The sequencing of mitochondrial genome (mtDNA) revealed the presence of A to G mtDNA point mutation at position 3243 (m.3243A>G) in tRNALeu(UUR) gene. Diagnosis of cardiac involvement in a patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes syndrome (MELAS) was made. Due to increased risk of sudden cardiac death, cardioverter defibrillator was implanted. |
| format | Article |
| id | doaj-art-02578f54600140d6b20d599c433af080 |
| institution | Kabale University |
| issn | 2090-6404 2090-6412 |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Cardiology |
| spelling | doaj-art-02578f54600140d6b20d599c433af0802025-08-20T03:55:32ZengWileyCase Reports in Cardiology2090-64042090-64122016-01-01201610.1155/2016/14901811490181MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging ApproachSara Seitun0Laura Massobrio1Anna Rubegni2Claudia Nesti3Margherita Castiglione Morelli4Sara Boccalini5Athena Galletto Pregliasco6Irilda Budaj7Luca Deferrari8Gian Marco Rosa9Fabrizio Montecucco10Alberto Valbusa11Department of Radiology and Interventional Radiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, ItalyClinic of Cardiovascular Disease, University of Genoa, Viale Benedetto XV n6, 16143 Genova, ItalyNeuromuscular and Molecular Medicine Unit, IRCCS Stella Maris Foundation, Pisa, ItalyNeuromuscular and Molecular Medicine Unit, IRCCS Stella Maris Foundation, Pisa, ItalyDepartment of Radiology and Interventional Radiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, ItalyDepartment of Radiology and Interventional Radiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, ItalyDepartment of Radiology and Interventional Radiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, ItalyDepartment of Radiology and Interventional Radiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, ItalyDivision of Cardiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, ItalyClinic of Cardiovascular Disease, University of Genoa, Viale Benedetto XV n6, 16143 Genova, ItalyIRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, ItalyDivision of Cardiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, ItalyA 49-year-old man presented with chest pain, dyspnea, and lactic acidosis. Left ventricular hypertrophy and myocardial fibrosis were detected. The sequencing of mitochondrial genome (mtDNA) revealed the presence of A to G mtDNA point mutation at position 3243 (m.3243A>G) in tRNALeu(UUR) gene. Diagnosis of cardiac involvement in a patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes syndrome (MELAS) was made. Due to increased risk of sudden cardiac death, cardioverter defibrillator was implanted.http://dx.doi.org/10.1155/2016/1490181 |
| spellingShingle | Sara Seitun Laura Massobrio Anna Rubegni Claudia Nesti Margherita Castiglione Morelli Sara Boccalini Athena Galletto Pregliasco Irilda Budaj Luca Deferrari Gian Marco Rosa Fabrizio Montecucco Alberto Valbusa MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach Case Reports in Cardiology |
| title | MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach |
| title_full | MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach |
| title_fullStr | MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach |
| title_full_unstemmed | MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach |
| title_short | MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach |
| title_sort | melas syndrome with cardiac involvement a multimodality imaging approach |
| url | http://dx.doi.org/10.1155/2016/1490181 |
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