Clinical profile and outcome of cardiac involvement in MELAS syndrome

INTERNATIONAL JOURNAL OF CARDIOLOGY

卷:276

Article

Brambilla, Alice¹  Favilli, Silvia²  Olivotto, Iacopo³  Calabri, Giovanni Battista²  Porcedda, Giulio²  De Simone, Luciano²  Procopio, Elena⁴  Pasquini, Elisabetta⁴  Donati, Maria Alice⁴ 

[1] Univ Florence, Anna Meyer Childrens Hosp, Viale Pieraccini 24, I-50139 Florence, Italy

[2] Anna Meyer Childrens Hosp, Paediat Cardiol Unit, Viale Pieraccini 24, I-50139 Florence, Italy

[3] Careggi Hosp, Cardiomyopathy Unit, Largo Brambilla 3, Florence, Italy

[4] Anna Meyer Childrens Hosp, Dept Inherited Neurometab Disorders, Viale Pieraccini 24, I-50159 Florence, Italy

关键词: Metabolic cardiomyopathy;    MELAS syndrome;    Mitochondria;   

DOI  :  10.1016/j.ijcard.2018.10.051

来源: Elsevier

【 摘 要 】

Background: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like (MELAS) syndrome is a rare condition with heterogeneous clinical presentation. Cardiac involvement commonly develops during adulthood, comprising both structural and conduction/arrhythmic abnormalities; early paediatric onset has rarely been reported. We describe the clinical profile, outcome and clinical implication of MELAS-associated cardiomyopathy at a tertiary referral centre. Methods: From 2000 to 2016 we enrolled 21 patients affected by genetically-proven MELAS. Patients were followed-up at least annually over a mean of 8.5 years. Results: All patients carried the MT-TL1 3243A>G mutation. Cardiac involvement was documented in 8 (38%) patients (three <18 years; five >= 18 years), including 6 (75%) with hypertrophic cardiomyopathy, 1 (12.5%) with dilated cardiomyopathy, and 1 (12.5%) with persistent pulmonary hypertension. During follow-up, 3 patients died, all with cardiac onset <18 years. The cause of death, however, was non-cardiac (infections, respiratory failure, stroke). Neither events nor cardiac progression were recorded among patients with onset >= 18 years. Adult cardiologists were responsible for 5/8 of referrals, even in patients with long-standing extra-cardiac involvement. Conclusions: Cardiac involvement was found in over 1/3 of patients with MELAS syndrome, and exhibited a bimodal age-related distribution with distinct final outcomes. Paediatric-onset cardiomyopathy represented a hallmark of systemic disease severity, without being the main determinant of outcome. Conversely, adult-onset cardiomyopathy appeared to represent a mild and non-progressive mid-term manifestation. Adult cardiologists played an important role in the diagnostic process, triggering suspicion of MELAS inmost of patients diagnosis >18 years. (c) 2018 Elsevier B.V. All rights reserved.

【 授权许可】

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