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MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach.
Seitun, Sara; Massobrio, Laura; Rubegni, Anna; Nesti, Claudia; Castiglione Morelli, Margherita; Boccalini, Sara; Galletto Pregliasco, Athena; Budaj, Irilda; Deferrari, Luca; Rosa, Gian Marco; Montecucco, Fabrizio; Valbusa, Alberto.
Afiliação
  • Seitun S; Department of Radiology and Interventional Radiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, Italy.
  • Massobrio L; Clinic of Cardiovascular Disease, University of Genoa, Viale Benedetto XV n6, 16143 Genova, Italy.
  • Rubegni A; Neuromuscular and Molecular Medicine Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Nesti C; Neuromuscular and Molecular Medicine Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Castiglione Morelli M; Department of Radiology and Interventional Radiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, Italy.
  • Boccalini S; Department of Radiology and Interventional Radiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, Italy.
  • Galletto Pregliasco A; Department of Radiology and Interventional Radiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, Italy.
  • Budaj I; Department of Radiology and Interventional Radiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, Italy.
  • Deferrari L; Division of Cardiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, Italy.
  • Rosa GM; Clinic of Cardiovascular Disease, University of Genoa, Viale Benedetto XV n6, 16143 Genova, Italy; IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, Italy.
  • Montecucco F; IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, Italy; First Clinic of Internal Medicine, Department of Internal Medicine, University of Genoa, Viale Benedetto XV n6, 16143 Genova, Italy.
  • Valbusa A; Division of Cardiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, Italy.
Case Rep Cardiol ; 2016: 1490181, 2016.
Article em En | MEDLINE | ID: mdl-27891257
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.

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2016 Tipo de documento: Article