title: MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach.
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) intRNALeu(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.
authors.affiliation: Department of Radiology and Interventional Radiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, Italy.
authors.forename: Sara
authors.identifier: 0000-0003-1642-4521
authors.initials: S
authors.lastname: Seitun
authors.affiliation: Clinic of Cardiovascular Disease, University of Genoa, Viale Benedetto XV n6, 16143 Genova, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Massobrio
authors.affiliation: Neuromuscular and Molecular Medicine Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Rubegni
authors.affiliation: Neuromuscular and Molecular Medicine Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Nesti
authors.affiliation: Department of Radiology and Interventional Radiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, Italy.
authors.forename: Margherita
authors.initials: M
authors.lastname: Castiglione Morelli
authors.affiliation: Department of Radiology and Interventional Radiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Boccalini
authors.affiliation: Department of Radiology and Interventional Radiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, Italy.
authors.forename: Athena
authors.initials: A
authors.lastname: Galletto Pregliasco
authors.affiliation: Department of Radiology and Interventional Radiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, Italy.
authors.forename: Irilda
authors.initials: I
authors.lastname: Budaj
authors.affiliation: Division of Cardiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Deferrari
authors.affiliation: 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.
authors.forename: Gian Marco
authors.initials: GM
authors.lastname: Rosa
authors.affiliation: 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.
authors.forename: Fabrizio
authors.identifier: 0000-0003-0823-8729
authors.initials: F
authors.lastname: Montecucco
authors.affiliation: Division of Cardiology, IRCCS AOU San Martino, IST Genova, Largo Benzi 10, 16100 Genova, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Valbusa