Hypertrophic cardiomyopathy due to intensive athletic training
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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12
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OrphanetNr:
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217601
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OMIM Id:
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ICD-10:
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I42.2
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Age of onset:
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Adolescent
Adult
26178432 [IBIS]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Hypertrophic cardiomyopathy
-Rare cardiac disease
Non-familial hypertrophic cardiomyopathy
-Rare cardiac disease
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Comment:
| Hypertrophic cardiomyopathy (HCM) is a complex genetic disorder usually diagnosed in a young adult population. The differentiation between HCM and physiological left ventricular hypertrophy (athlete`s heart) is essential: HCM is the main cause of exercise-induced sudden cardiac death in the young and especially in young athletes with overlapping features in Athlete's Heart or HCM (PMID:26230069). Because one of the initial signs of HCM is abnormality in electrocardiogram (ECG), athletes may need to monitor for ECG findings to prevent any unfavorable outcomes. 5 out of 102 (4.9%) japanese athletes with abnormal ECG carried mutations: a heterozygous MYH7 Glu935Lys mutation, a heterozygous MYBPC3 Arg160Trp mutation and another heterozygous MYBPC3 Thr1046Met mutation, all of which had been reported as HCM-associated mutations, in 1, 2 and 2 subjects, respectively (PMID:26178432). |
ClinVar (via SNiPA)
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Variation |
Clinical significance |
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