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HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.

BACKGROUNDFamilial forms of primary sinus bradycardia have sometimes been attributed to mutations in HCN4, SCN5A, and ANK2. In these studies, no structural cardiac alterations were reported in mutation carriers. However, a cluster of reports in the literature describe patients presenting with sinus... Full description

Journal Title: Journal of the American College of Cardiology August 26, 2014, Vol.64(8), pp.745-756
Main Author: Milano, Annalisa
Other Authors: Vermeer, Alexa M C , Lodder, Elisabeth M , Barc, Julien , Verkerk, Arie O , Postma, Alex V , van Der Bilt, Ivo A C , Baars, Marieke J H , van Haelst, Paul L , Caliskan, Kadir , Hoedemaekers, Yvonne M , Le Scouarnec, Solena , Redon, Richard , Pinto, Yigal M , Christiaans, Imke , Wilde, Arthur A , Bezzina, Connie R
Format: Electronic Article Electronic Article
Language: English
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ID: E-ISSN: 1558-3597 ; DOI: 10.1016/j.jacc.2014.05.045
Link: http://search.proquest.com/docview/1555624964/?pq-origsite=primo
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title: HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.
format: Article
creator:
  • Milano, Annalisa
  • Vermeer, Alexa M C
  • Lodder, Elisabeth M
  • Barc, Julien
  • Verkerk, Arie O
  • Postma, Alex V
  • van Der Bilt, Ivo A C
  • Baars, Marieke J H
  • van Haelst, Paul L
  • Caliskan, Kadir
  • Hoedemaekers, Yvonne M
  • Le Scouarnec, Solena
  • Redon, Richard
  • Pinto, Yigal M
  • Christiaans, Imke
  • Wilde, Arthur A
  • Bezzina, Connie R
subjects:
  • Adolescent–Diagnostic Imaging
  • Adult–Genetics
  • Aged–Genetics
  • Animals–Genetics
  • Cho Cells–Genetics
  • Cricetulus–Congenital
  • DNA Mutational Analysis–Diagnostic Imaging
  • Exome–Genetics
  • Female–Genetics
  • Genetic Linkage–Genetics
  • Heart Defects, Congenital–Genetics
  • Humans–Genetics
  • Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels–Genetics
  • Male–Genetics
  • Membrane Potentials–Genetics
  • Middle Aged–Genetics
  • Muscle Proteins–Genetics
  • Potassium Channels–Genetics
  • Sick Sinus Syndrome–Genetics
  • Syndrome
ispartof: Journal of the American College of Cardiology, August 26, 2014, Vol.64(8), pp.745-756
description: BACKGROUNDFamilial forms of primary sinus bradycardia have sometimes been attributed to mutations in HCN4, SCN5A, and ANK2. In these studies, no structural cardiac alterations were reported in mutation carriers. However, a cluster of reports in the literature describe patients presenting with sinus bradycardia in association with left ventricular noncompaction cardiomyopathy (LVNC), pointing to a shared genetic cause. OBJECTIVESThis study sought to identify the genetic defect underlying the combined clinical presentation of bradycardia and LVNC, hypothesizing that these 2 clinical abnormalities have a common genetic cause. METHODSExome sequencing was carried out in 2 cousins from the index family that were affected by the combined bradycardia-LVNC phenotype; shared variants thus identified were subsequently overlaid with the chromosomal regions shared among 5 affected family members that were identified using single nucleotide polymorphism array analysis. RESULTSThe combined linkage analysis...
language: eng
source:
identifier: E-ISSN: 1558-3597 ; DOI: 10.1016/j.jacc.2014.05.045
fulltext: fulltext
issn:
  • 15583597
  • 1558-3597
url: Link


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titleHCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.
creatorMilano, Annalisa ; Vermeer, Alexa M C ; Lodder, Elisabeth M ; Barc, Julien ; Verkerk, Arie O ; Postma, Alex V ; van Der Bilt, Ivo A C ; Baars, Marieke J H ; van Haelst, Paul L ; Caliskan, Kadir ; Hoedemaekers, Yvonne M ; Le Scouarnec, Solena ; Redon, Richard ; Pinto, Yigal M ; Christiaans, Imke ; Wilde, Arthur A ; Bezzina, Connie R
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ispartofJournal of the American College of Cardiology, August 26, 2014, Vol.64(8), pp.745-756
identifierE-ISSN: 1558-3597 ; DOI: 10.1016/j.jacc.2014.05.045
subjectAdolescent–Diagnostic Imaging ; Adult–Genetics ; Aged–Genetics ; Animals–Genetics ; Cho Cells–Genetics ; Cricetulus–Congenital ; DNA Mutational Analysis–Diagnostic Imaging ; Exome–Genetics ; Female–Genetics ; Genetic Linkage–Genetics ; Heart Defects, Congenital–Genetics ; Humans–Genetics ; Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels–Genetics ; Male–Genetics ; Membrane Potentials–Genetics ; Middle Aged–Genetics ; Muscle Proteins–Genetics ; Potassium Channels–Genetics ; Sick Sinus Syndrome–Genetics ; Syndrome
descriptionBACKGROUNDFamilial forms of primary sinus bradycardia have sometimes been attributed to mutations in HCN4, SCN5A, and ANK2. In these studies, no structural cardiac alterations were reported in mutation carriers. However, a cluster of reports in the literature describe patients presenting with sinus bradycardia in association with left ventricular noncompaction cardiomyopathy (LVNC), pointing to a shared genetic cause. OBJECTIVESThis study sought to identify the genetic defect underlying the combined clinical presentation of bradycardia and LVNC, hypothesizing that these 2 clinical abnormalities have a common genetic cause. METHODSExome sequencing was carried out in 2 cousins from the index family that were affected by the combined bradycardia-LVNC phenotype; shared variants thus identified were subsequently overlaid with the chromosomal regions shared among 5 affected family members that were identified using single nucleotide polymorphism array analysis. RESULTSThe combined linkage analysis...
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16Bezzina, Connie R
titleHCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.
descriptionBACKGROUNDFamilial forms of primary sinus bradycardia have sometimes been attributed to mutations in HCN4, SCN5A, and ANK2. In these studies, no structural cardiac alterations were reported in mutation carriers. However, a cluster of reports in the literature describe patients presenting with sinus bradycardia in association with left ventricular noncompaction cardiomyopathy (LVNC), pointing to a shared genetic cause. OBJECTIVESThis study sought to identify the genetic defect underlying the combined clinical presentation of bradycardia and LVNC, hypothesizing that these 2 clinical abnormalities have a common genetic cause. METHODSExome sequencing was carried out in 2 cousins from the index family that were affected by the combined bradycardia-LVNC phenotype; shared variants thus identified were subsequently overlaid with the chromosomal regions shared among 5 affected family members that were identified using single nucleotide polymorphism array analysis. RESULTSThe combined linkage analysis...
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titleHCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.
authorMilano, Annalisa ; Vermeer, Alexa M C ; Lodder, Elisabeth M ; Barc, Julien ; Verkerk, Arie O ; Postma, Alex V ; van Der Bilt, Ivo A C ; Baars, Marieke J H ; van Haelst, Paul L ; Caliskan, Kadir ; Hoedemaekers, Yvonne M ; Le Scouarnec, Solena ; Redon, Richard ; Pinto, Yigal M ; Christiaans, Imke ; Wilde, Arthur A ; Bezzina, Connie R
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6DNA Mutational Analysis–Diagnostic Imaging
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8Female–Genetics
9Genetic Linkage–Genetics
10Heart Defects, Congenital–Genetics
11Humans–Genetics
12Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels–Genetics
13Male–Genetics
14Membrane Potentials–Genetics
15Middle Aged–Genetics
16Muscle Proteins–Genetics
17Potassium Channels–Genetics
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abstractBACKGROUNDFamilial forms of primary sinus bradycardia have sometimes been attributed to mutations in HCN4, SCN5A, and ANK2. In these studies, no structural cardiac alterations were reported in mutation carriers. However, a cluster of reports in the literature describe patients presenting with sinus bradycardia in association with left ventricular noncompaction cardiomyopathy (LVNC), pointing to a shared genetic cause. OBJECTIVESThis study sought to identify the genetic defect underlying the combined clinical presentation of bradycardia and LVNC, hypothesizing that these 2 clinical abnormalities have a common genetic cause. METHODSExome sequencing was carried out in 2 cousins from the index family that were affected by the combined bradycardia-LVNC phenotype; shared variants thus identified were subsequently overlaid with the chromosomal regions shared among 5 affected family members that were identified using single nucleotide polymorphism array analysis. RESULTSThe combined linkage analysis...
doi10.1016/j.jacc.2014.05.045
urlhttp://search.proquest.com/docview/1555624964/
issn07351097
date2014-08-26