Rachele Adorisio, Nicoletta Cantarutti, Barbara Siri, Elisa Bellettini, Gessica Ingrasciotta, Erica Mencarelli, Francesca Graziani, Rosa Lillo, Sara Di Marzio, Corrado Di Mambro, Fabrizio Drago, Antonio Amodeo, Diego Martinelli
Bambino Gesù Children’s Hospital. University of Turin. Fondazione Policlinico Universitario A. Gemelli.
Italy
Frontiers in Cardiovascular Medicine
Front Cardiovasc Med 2025; 12:
DOI: 10.3389/fcvm.2025.1621096
Abstract
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 per 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.
Category
Class II. Pulmonary Hypertension Associated with Left Ventricular Systolic or Diastolic Dysfunction
Review Articles Concerning Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease or Adult Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes