Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge
Mariarita Brancaccio,
Cristina Mennitti,
Arturo Cesaro,
Emanuele Monda,
Valeria D’Argenio,
Giorgio Casaburi,
Cristina Mazzaccara,
Annaluisa Ranieri,
Fabio Fimiani,
Ferdinando Barretta,
Fabiana Uomo,
Martina Caiazza,
Michele Lioncino,
Giovanni D’Alicandro,
Giuseppe Limongelli,
Paolo Calabrò,
Daniela Terracciano,
Barbara Lombardo,
Giulia Frisso,
Olga Scudiero
Affiliations
Mariarita Brancaccio
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy
Cristina Mennitti
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy
Arturo Cesaro
Department of Translational Medical Sciences, Università degli Studi della Campania “Luigi Vanvitelli”, 80138 Naples, Italy
Emanuele Monda
Department of Translational Medical Sciences, Università degli Studi della Campania “Luigi Vanvitelli”, 80138 Naples, Italy
Valeria D’Argenio
Ceinge Biotecnologie Avanzate S. C. a R. L., 80131 Naples, Italy
Giorgio Casaburi
Prescient Metabiomics, 1600 Faraday Ave, Carlsbad, CA 9200, USA
Cristina Mazzaccara
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy
Annaluisa Ranieri
Ceinge Biotecnologie Avanzate S. C. a R. L., 80131 Naples, Italy
Fabio Fimiani
Unit of Inherited and Rare Cardiovascular Diseases, Azienda Ospedaliera di Rilievo Nazionale AORN Dei Colli, “V. Monaldi”, 80122 Naples, Italy
Ferdinando Barretta
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy
Fabiana Uomo
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy
Martina Caiazza
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 81100 Naples, Italy
Michele Lioncino
Department of Translational Medical Sciences, Università degli Studi della Campania “Luigi Vanvitelli”, 80138 Naples, Italy
Giovanni D’Alicandro
Department of Neuroscience and Rehabilitation, Center of Sports Medicine and Disability, AORN, Santobono-Pausillipon, 80122 Naples, Italy
Giuseppe Limongelli
Department of Translational Medical Sciences, Università degli Studi della Campania “Luigi Vanvitelli”, 80138 Naples, Italy
Paolo Calabrò
Department of Translational Medical Sciences, Università degli Studi della Campania “Luigi Vanvitelli”, 80138 Naples, Italy
Daniela Terracciano
Department of Translational Medical Sciences, University of Naples Federico II, 80131 Naples, Italy
Barbara Lombardo
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy
Giulia Frisso
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy
Olga Scudiero
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy
Laboratory medicine, along with genetic investigations in sports medicine, is taking on an increasingly important role in monitoring athletes’ health conditions. Acute or intense exercise can result in metabolic imbalances, muscle injuries or reveal cardiovascular disorders. This study aimed to monitor the health status of a basketball player with an integrated approach, including biochemical and genetic investigations and advanced imaging techniques, to shed light on the causes of recurrent syncope he experienced during exercise. Biochemical analyses showed that the athlete had abnormal iron, ferritin and bilirubin levels. Coronary Computed Tomographic Angiography highlighted the presence of an intramyocardial bridge, suggesting this may be the cause of the observed syncopes. The athlete was excluded from competitive activity. In order to understand if this cardiac malformation could be caused by an inherited genetic condition, both array-CGH and whole exome sequencing were performed. Array-CGH showed two intronic deletions involving MACROD2 and COMMD10 genes, which could be related to a congenital heart defect; whole exome sequencing highlighted the genotype compatible with Gilbert syndrome. However, no clear pathogenic mutations related to the patient’s cardiological phenotype were detected, even after applying machine learning methods. This case report highlights the importance and the need to provide exhaustive personalized diagnostic work up for the athletes in order to cover the cause of their malaise and for safeguarding their health. This multidisciplinary approach can be useful to create ad personam training and treatments, thus avoiding the appearance of diseases and injuries which, if underestimated, can become irreversible disorders and sometimes can result in the death of the athlete.
