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Title of the item:

Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene.

Title :
Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene.
Authors :
Hallıoğlu Kılınç O
Giray D; Department of Pediatric Cardiology, Mersin University Faculty of Medicine, Mersin, Turkey. .
Bişgin A
Tuğ Bozdoğan S
Karpuz D
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Source :
Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir [Turk Kardiyol Dern Ars] 2017 Jul; Vol. 45 (5), pp. 450-453.
Publication Type :
Case Reports; Journal Article
Language :
English
Imprint Name(s) :
Publication: 2021- : İstanbul, Turkey : AVES Publishing
Original Publication: İstanbul : Türk Kardiyoloji Derneği
MeSH Terms :
Cardiomyopathy, Hypertrophic, Familial/*genetics
Carrier Proteins/*genetics
Cardiomyopathy, Hypertrophic, Familial/complications ; Cardiomyopathy, Hypertrophic, Familial/diagnostic imaging ; Child, Preschool ; Echocardiography ; Female ; Heart Septal Defects, Ventricular/complications ; Humans ; Male ; Mutation
Substance Nomenclature :
0 (Carrier Proteins)
0 (myosin-binding protein C)
Entry Date(s) :
Date Created: 20170712 Date Completed: 20180419 Latest Revision: 20181023
Update Code :
20210210
DOI :
10.5543/tkda.2016.56267
PMID :
28694399
Academic Journal
Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease with variable clinical features that is inherited as autosomal dominant with variable penetrance. Recent developments in genetics of hereditary cardiomyopathy have not only enlightened many points about pathogenesis, but have also provided great benefit to diagnostic approaches of clinicians. Heterozygous mutation of c3691-3692insTTCA in MYBPC3 gene was identified in a pediatric patient with diagnosis of hypertrophic cardiomyopathy at clinic. Hypertrophy was observed in sister and father of the patient in echocardiography screening, and it was subsequently determined that they also had same mutation. This mutation has not previously been defined and reported previously in the literature as cause of hypertrophic cardiomyopathy.

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