Author/Authors :
Seitun, Sara Department of Radiology and Interventional Radiology, Italy , Massobrio, Laura Clinic of Cardiovascular Disease - University of Genoa, Italy , Rubegni, Anna Neuromuscular and Molecular Medicine Unit - IRCCS Stella Maris Foundation, Pisa, Italy , Nesti, Claudia Neuromuscular and Molecular Medicine Unit - IRCCS Stella Maris Foundation, Pisa, Italy , Castiglione Morelli, Margherita Department of Radiology and Interventional Radiology, Italy , Boccalini, Sara Department of Radiology and Interventional Radiology, Italy , Galletto Pregliasco, Athena Department of Radiology and Interventional Radiology, Italy , Budaj, Irilda Department of Radiology and Interventional Radiology, Italy , Deferrari, Luca Division of Cardiology - IRCCS AOU San Martino, IST Genova, Largo, Italy , Marco Rosa, Gian Clinic of Cardiovascular Disease - University of Genoa, Italy , Montecucco, Fabrizio IRCCS AOU San Martino, IST Genova, Largo Benzi , Genova, Italy , Valbusa, Alberto Division of Cardiology - IRCCS AOU San Martino, IST Genova, Largo, Italy
Abstract :
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.
