Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype?
Abstract Compound heterozygosity has been described in inherited arrhythmias, and usually associated with a more severe phenotype. Reports of this occurrence in Brugada syndrome patients are still rare. We report a study of genotype-phenotype correlation after the identification of new variants by genetic testing. We describe the case of an affected child with a combination of two different likely pathogenic SCN5A variants, presenting sinus node dysfunction, flutter and atrial fibrillation, prolonged HV interval, spontaneous type 1 Brugada pattern in the prepubescent age and familiar history of sudden death.
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Sociedade Brasileira de Cardiologia - SBC
2017
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| Online Access: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2017000100070 |
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oai:scielo:S0066-782X20170001000702017-01-23Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype?Sacilotto,LucianaEpifanio,Hindalis BallesterosDarrieux,Francisco Carlos da CostaWulkan,FannyOliveira,Theo Gremen MimaryHachul,Denise TessariolPereira,Alexandre da CostaScanavacca,Mauricio Ibrahim Brugada Syndrome Sinoatrial Node / abnormalities Arrhythmias, Cardiac Genetic Testing Heredity Abstract Compound heterozygosity has been described in inherited arrhythmias, and usually associated with a more severe phenotype. Reports of this occurrence in Brugada syndrome patients are still rare. We report a study of genotype-phenotype correlation after the identification of new variants by genetic testing. We describe the case of an affected child with a combination of two different likely pathogenic SCN5A variants, presenting sinus node dysfunction, flutter and atrial fibrillation, prolonged HV interval, spontaneous type 1 Brugada pattern in the prepubescent age and familiar history of sudden death.info:eu-repo/semantics/openAccessSociedade Brasileira de Cardiologia - SBCArquivos Brasileiros de Cardiologia v.108 n.1 20172017-01-01info:eu-repo/semantics/othertext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2017000100070en10.5935/abc.20170006 |
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Sacilotto,Luciana Epifanio,Hindalis Ballesteros Darrieux,Francisco Carlos da Costa Wulkan,Fanny Oliveira,Theo Gremen Mimary Hachul,Denise Tessariol Pereira,Alexandre da Costa Scanavacca,Mauricio Ibrahim |
| spellingShingle |
Sacilotto,Luciana Epifanio,Hindalis Ballesteros Darrieux,Francisco Carlos da Costa Wulkan,Fanny Oliveira,Theo Gremen Mimary Hachul,Denise Tessariol Pereira,Alexandre da Costa Scanavacca,Mauricio Ibrahim Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype? |
| author_facet |
Sacilotto,Luciana Epifanio,Hindalis Ballesteros Darrieux,Francisco Carlos da Costa Wulkan,Fanny Oliveira,Theo Gremen Mimary Hachul,Denise Tessariol Pereira,Alexandre da Costa Scanavacca,Mauricio Ibrahim |
| author_sort |
Sacilotto,Luciana |
| title |
Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype? |
| title_short |
Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype? |
| title_full |
Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype? |
| title_fullStr |
Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype? |
| title_full_unstemmed |
Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype? |
| title_sort |
compound heterozygous scn5a mutations in a toddler - are they associated with a more severe phenotype? |
| description |
Abstract Compound heterozygosity has been described in inherited arrhythmias, and usually associated with a more severe phenotype. Reports of this occurrence in Brugada syndrome patients are still rare. We report a study of genotype-phenotype correlation after the identification of new variants by genetic testing. We describe the case of an affected child with a combination of two different likely pathogenic SCN5A variants, presenting sinus node dysfunction, flutter and atrial fibrillation, prolonged HV interval, spontaneous type 1 Brugada pattern in the prepubescent age and familiar history of sudden death. |
| publisher |
Sociedade Brasileira de Cardiologia - SBC |
| publishDate |
2017 |
| url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2017000100070 |
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