Document Detail

The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a pS358L mutation in TMEM43.
MedLine Citation:
PMID:  22725725     Owner:  NLM     Status:  Publisher    
AIMS: To determine the phenotype and natural history of a founder genetic subtype of autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) caused by a p.S358L mutation in TMEM43. METHODS AND RESULTS: The age of onset of cardiac symptoms, clinical events and test abnormalities were studied in 412 subjects (258 affected, 154 unaffected), all of which occurred in affected males significantly earlier, and more often than unaffected males. Affected males were hospitalised four times more often than affected females (p≤ 0.0001) and died younger (p≤0.001). The temporal sequence from symptoms onset to death was prolonged in affected females by 1-2 decades. The most prevalent ECG manifestation was poor R wave progression (PRWP), with affected males twice as likely to develop PRWP as affected females (p≤ 0.05). Left ventricular enlargement occurred in 43% of affected subjects, with 11% fulfilling criteria for dilated cardiomyopathy. Ventricular ectopy on Holter monitor was common and occurred early: the most diagnostically useful clinical test. No symptom or test could rule out diagnosis. CONCLUSIONS: This ARVC subtype is a sex influenced lethal arrhythmogenic cardiomyopathy, with a unique ECG finding, left ventricular dilatation, heart failure and early death, where molecular pre- symptomatic diagnosis has the greatest clinical utility.
Kathy A Hodgkinson; Sean P Connors; Nancy Merner; Annika Haywood; Terry-Lynn Young; William J McKenna; Barry Gallagher; Fiona Curtis; Anne S Bassett; Patrick S Parfrey
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-6-22
Journal Detail:
Title:  Clinical genetics     Volume:  9999     ISSN:  1399-0004     ISO Abbreviation:  -     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-6-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2012 John Wiley & Sons A/S.
Clinical Epidemiology Unit, St. John's, Newfoundland, Canada; Discipline of Genetics, Health Sciences Centre, Memorial University, St. John's, Newfoundland, Canada.
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