Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge
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 moni...
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2021
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oai:doaj.org-article:2f2c1adf3fe84b728c11d7840c5607172021-11-25T17:22:00ZMultidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge10.3390/diagnostics111121442075-4418https://doaj.org/article/2f2c1adf3fe84b728c11d7840c5607172021-11-01T00:00:00Zhttps://www.mdpi.com/2075-4418/11/11/2144https://doaj.org/toc/2075-4418Laboratory 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 <i>MACROD2</i> and <i>COMMD10</i> 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.Mariarita BrancaccioCristina MennittiArturo CesaroEmanuele MondaValeria D’ArgenioGiorgio CasaburiCristina MazzaccaraAnnaluisa RanieriFabio FimianiFerdinando BarrettaFabiana UomoMartina CaiazzaMichele LioncinoGiovanni D’AlicandroGiuseppe LimongelliPaolo CalabròDaniela TerraccianoBarbara LombardoGiulia FrissoOlga ScudieroMDPI AGarticleathletesport activitylaboratory medicineheart bridgegenomic analysisexome sequencingMedicine (General)R5-920ENDiagnostics, Vol 11, Iss 2144, p 2144 (2021) |
| institution |
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| collection |
DOAJ |
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EN |
| topic |
athlete sport activity laboratory medicine heart bridge genomic analysis exome sequencing Medicine (General) R5-920 |
| spellingShingle |
athlete sport activity laboratory medicine heart bridge genomic analysis exome sequencing Medicine (General) R5-920 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 Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge |
| description |
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 <i>MACROD2</i> and <i>COMMD10</i> 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. |
| format |
article |
| author |
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 |
| author_facet |
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 |
| author_sort |
Mariarita Brancaccio |
| title |
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge |
| title_short |
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge |
| title_full |
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge |
| title_fullStr |
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge |
| title_full_unstemmed |
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge |
| title_sort |
multidisciplinary in-depth investigation in a young athlete suffering from syncope caused by myocardial bridge |
| publisher |
MDPI AG |
| publishDate |
2021 |
| url |
https://doaj.org/article/2f2c1adf3fe84b728c11d7840c560717 |
| work_keys_str_mv |
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