Mitochondrial cardiomyopathies: navigating between different clinical features and management in infantile and adult forms

Rachele Adorisio^1*Nicoletta Cantarutti^1*Barbara Siri¹ELISA BELLETTINI¹Gessica Ingrasciotta¹Erica Mencarelli¹FRANCESCA GRAZIANI²Rosa Lillo²Sara Di Marzio¹Corrado Di Mambro¹Fabrizio Drago¹Antonio Amodeo¹Diego Martinelli¹

• ¹Bambino Gesù Children's Hospital (IRCCS), Rome, Italy
• ²Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy

Mitochondrial diseases (MD) represent a group of rare disease with an estimated prevalence of 5-12 per 100,000 individuals, with a prevalence at birth of 1: 5,000 and with childhood-onset of 5-15:10,000. They are characterized by a multisystemic phenotype with neurodegenerative, neuromuscular, ophthalmological, endocrinological, gastroenterological and cardiac manifestations.MD can present as a systemic disease or with single organ involvement. When cardiac involvement is the presenting feature, physicians must have a high level of suspicion to search for other organ involvement that can lead to the diagnosis.Cardiovascular manifestations are frequently reported in MD with a significant contribute to mortality. Cardiac involvement is particularly represented in MD with an estimated incidence of 20-40% in children. Presentation is manifesting as a wide range of cardiac disease, encompassing cardiomyopathy, disturbance of conduction systems, aortopathy and pulmonary hypertension.The aim of this review is to provide a cardiological perspective on the cardiac involvement occurring in the main MD, according to the age of onset, clinical and phenotypic presentation, focusing on the paediatric and adult differences.