Search for author "Wendy K. Chung"

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  Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

  Mustapha Amyere, Nicole Revencu, Raphaël Helaers, Eleonore Pairet, Eulalia Baselga, Maria R. Cordisco, Wendy K. Chung, Josée Dubois, Jean-Philippe Lacour, Loreto Martorell, Juliette Mazereeuw-Hautier, Reed E. Pyeritz, David J. Amor, Annouk Bisdorff, Francine Blei, Hannah Bombei, Anne Dompmartin, David G. Brooks, Juliette Dupont, Maria A. González-Enseñat, Ilona J. Frieden, Marion Gérard, Malin Kvarnung, Andrea Kwan Hanson-Kahn, Louanne Hudgins, Christine Léauté-Labrèze, Catherine McCuaig, Denise Metry, Philippe Parent, Carle Paul, Florence Petit, Alice Phan, Isabelle Quéré, Aicha Salhi, Anne M. Turner, Pierre Vabres, Asuncion Vicente, Orli Wargon, Shoji Watanabe, Lisa Weibel, Ashley Wilson, Marcia Willing, John B. Mulliken, Laurence M. Boon and Miikka Vikkula

  Circulation. 2017;CIRCULATIONAHA.116.026886, originally published July 7, 2017

  https://doi.org/10.1161/CIRCULATIONAHA.116.026886

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  Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated CardiomyopathyCLINICAL PERSPECTIVEA Report From the Pediatric Cardiomyopathy Registry Study Group

  Paolo Rusconi, James D. Wilkinson, Lynn A. Sleeper, Minmin Lu, Gerald F. Cox, Jeffrey A. Towbin, Steven D. Colan, Steven A. Webber, Charles E. Canter, Stephanie M. Ware, Daphne T. Hsu, Wendy K. Chung, John L. Jefferies, Christina Cordero and Steven E. Lipshultz for the Pediatric Cardiomyopathy Registry Investigators

  Circulation: Heart Failure. 2017;10:e002637, originally published February 13, 2017

  https://doi.org/10.1161/CIRCHEARTFAILURE.115.002637

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  Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated CardiomyopathyCLINICAL PERSPECTIVE

  Paolo Rusconi, James D. Wilkinson, Lynn A. Sleeper, Minmin Lu, Gerald F. Cox, Jeffrey A. Towbin, Steven D. Colan, Steven A. Webber, Charles E. Canter, Stephanie M. Ware, Daphne T. Hsu, Wendy K. Chung, John L. Jefferies, Christina Cordero, Steven E. Lipshultz for the Pediatric Cardiomyopathy Registry Investigators

  Circulation: Heart Failure February 2017, 10 (2) e002637; DOI: https://doi.org/10.1161/CIRCHEARTFAILURE.115.002637

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  Table 1.

  By Paolo Rusconi, James D. Wilkinson, Lynn A. Sleeper, Minmin Lu, Gerald F. Cox, Jeffrey A. Towbin, Steven D. Colan, Steven A. Webber, Charles E. Canter, Stephanie M. Ware, Daphne T. Hsu, Wendy K. Chung, John L. Jefferies, Christina Cordero and Steven E. Lipshultz

  Characteristics of Children With Familial Dilated Cardiomyopathy or Idiopathic Dilated CardiomyopathyShow More

  Characteristics of Children With Familial Dilated Cardiomyopathy or Idiopathic Dilated CardiomyopathyShow Less
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  Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated CardiomyopathyCLINICAL PERSPECTIVE

  Paolo Rusconi, James D. Wilkinson, Lynn A. Sleeper, Minmin Lu, Gerald F. Cox, Jeffrey A. Towbin, Steven D. Colan, Steven A. Webber, Charles E. Canter, Stephanie M. Ware, Daphne T. Hsu, Wendy K. Chung, John L. Jefferies, Christina Cordero, Steven E. Lipshultz for the Pediatric Cardiomyopathy Registry Investigators

  Circulation: Heart Failure February 2017, 10 (2) e002637; DOI: https://doi.org/10.1161/CIRCHEARTFAILURE.115.002637

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  Table 2.

  By Paolo Rusconi, James D. Wilkinson, Lynn A. Sleeper, Minmin Lu, Gerald F. Cox, Jeffrey A. Towbin, Steven D. Colan, Steven A. Webber, Charles E. Canter, Stephanie M. Ware, Daphne T. Hsu, Wendy K. Chung, John L. Jefferies, Christina Cordero and Steven E. Lipshultz

  Unadjusted and Covariate-Adjusted Models for Clinical Outcome in Children With Familial DCM or Idiopathic DCMShow More

  Unadjusted and Covariate-Adjusted Models for Clinical Outcome in Children With Familial DCM or Idiopathic DCMShow Less
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  Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated CardiomyopathyCLINICAL PERSPECTIVE

  Paolo Rusconi, James D. Wilkinson, Lynn A. Sleeper, Minmin Lu, Gerald F. Cox, Jeffrey A. Towbin, Steven D. Colan, Steven A. Webber, Charles E. Canter, Stephanie M. Ware, Daphne T. Hsu, Wendy K. Chung, John L. Jefferies, Christina Cordero, Steven E. Lipshultz for the Pediatric Cardiomyopathy Registry Investigators

  Circulation: Heart Failure February 2017, 10 (2) e002637; DOI: https://doi.org/10.1161/CIRCHEARTFAILURE.115.002637

  

  Figure 1.

  By Paolo Rusconi, James D. Wilkinson, Lynn A. Sleeper, Minmin Lu, Gerald F. Cox, Jeffrey A. Towbin, Steven D. Colan, Steven A. Webber, Charles E. Canter, Stephanie M. Ware, Daphne T. Hsu, Wendy K. Chung, John L. Jefferies, Christina Cordero and Steven E. Lipshultz

  Competing outcomes analysis showing estimated proportion of patients in 3 mutually exclusive groups at all t...

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  Competing outcomes analysis showing estimated proportion of patients in 3 mutually exclusive groups at all times after diagnosis (alive, transplanted, and died without transplant) in (A) familial dilated cardiomyopathy (CM) and (B) idiopathic dilated CM. Summation of proportions equals 1 at all time points.

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  Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated CardiomyopathyCLINICAL PERSPECTIVE

  Paolo Rusconi, James D. Wilkinson, Lynn A. Sleeper, Minmin Lu, Gerald F. Cox, Jeffrey A. Towbin, Steven D. Colan, Steven A. Webber, Charles E. Canter, Stephanie M. Ware, Daphne T. Hsu, Wendy K. Chung, John L. Jefferies, Christina Cordero, Steven E. Lipshultz for the Pediatric Cardiomyopathy Registry Investigators

  Circulation: Heart Failure February 2017, 10 (2) e002637; DOI: https://doi.org/10.1161/CIRCHEARTFAILURE.115.002637

  

  Figure 2.

  By Paolo Rusconi, James D. Wilkinson, Lynn A. Sleeper, Minmin Lu, Gerald F. Cox, Jeffrey A. Towbin, Steven D. Colan, Steven A. Webber, Charles E. Canter, Stephanie M. Ware, Daphne T. Hsu, Wendy K. Chung, John L. Jefferies, Christina Cordero and Steven E. Lipshultz

  Kaplan–Meier curve comparing time to death and transplantation between children with familial dilated cardio...

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  Kaplan–Meier curve comparing time to death and transplantation between children with familial dilated cardiomyopathy (FDCM) and idiopathic cardiomyopathy without a family history of cardiomyopathy (IDCM). Log-rank P=0.15; 395 events.

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  Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated CardiomyopathyCLINICAL PERSPECTIVE

  Paolo Rusconi, James D. Wilkinson, Lynn A. Sleeper, Minmin Lu, Gerald F. Cox, Jeffrey A. Towbin, Steven D. Colan, Steven A. Webber, Charles E. Canter, Stephanie M. Ware, Daphne T. Hsu, Wendy K. Chung, John L. Jefferies, Christina Cordero, Steven E. Lipshultz for the Pediatric Cardiomyopathy Registry Investigators

  Circulation: Heart Failure February 2017, 10 (2) e002637; DOI: https://doi.org/10.1161/CIRCHEARTFAILURE.115.002637

  View table

  Table 3.

  By Paolo Rusconi, James D. Wilkinson, Lynn A. Sleeper, Minmin Lu, Gerald F. Cox, Jeffrey A. Towbin, Steven D. Colan, Steven A. Webber, Charles E. Canter, Stephanie M. Ware, Daphne T. Hsu, Wendy K. Chung, John L. Jefferies, Christina Cordero and Steven E. Lipshultz

  Univariate Analysis of Predictors of the Composite Outcome (Death or Heart Transplantation) in Children With Familial Dilated Cardiomyopathy (FDCM) or...Show More

  Univariate Analysis of Predictors of the Composite Outcome (Death or Heart Transplantation) in Children With Familial Dilated Cardiomyopathy (FDCM) or Idiopathic DCM (IDCM)Show Less
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  Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange–Nielsen Syndrome

  Kevin Bersell, Jay A. Montgomery, Arvindh N. Kanagasundram, Courtney M. Campbell, Wendy K. Chung, Daniela Macaya, David Konecki, Eli Venter, M. Benjamin Shoemaker and Dan M. Roden

  Circulation: Arrhythmia and Electrophysiology. 2016;9:e004081, originally published June 10, 2016

  https://doi.org/10.1161/CIRCEP.116.004081

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  Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange–Nielsen Syndrome

  Kevin Bersell, Jay A. Montgomery, Arvindh N. Kanagasundram, Courtney M. Campbell, Wendy K. Chung, Daniela Macaya, David Konecki, Eli Venter, M. Benjamin Shoemaker, Dan M. Roden

  Circulation: Arrhythmia and Electrophysiology June 2016, 9 (6) e004081; DOI: https://doi.org/10.1161/CIRCEP.116.004081

  

  Figure 1.

  By Kevin Bersell, Jay A. Montgomery, Arvindh N. Kanagasundram, Courtney M. Campbell, Wendy K. Chung, Daniela Macaya, David Konecki, Eli Venter, M. Benjamin Shoemaker and Dan M. Roden

  Electrocardiographic data. A, 12-Lead ECG showing normal sinus rhythm with broad, symmetric...

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  Electrocardiographic data. A, 12-Lead ECG showing normal sinus rhythm with broad, symmetrical T waves with corrected QT interval (QTc) 580 ms. B, Holter monitor showing postectopic QT >800 ms. C, Exercise test on metoprolol 100 mg/d. At end-exercise and early recovery, there is T wave lability in a nonalternans pattern and ventricular trigeminy. Torsades de Pointes then developed, persisting for 40 s before self-terminating. During recovery, T wave instability was once again seen.

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  Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange–Nielsen Syndrome

  Kevin Bersell, Jay A. Montgomery, Arvindh N. Kanagasundram, Courtney M. Campbell, Wendy K. Chung, Daniela Macaya, David Konecki, Eli Venter, M. Benjamin Shoemaker, Dan M. Roden

  Circulation: Arrhythmia and Electrophysiology June 2016, 9 (6) e004081; DOI: https://doi.org/10.1161/CIRCEP.116.004081

  

  Figure 2.

  By Kevin Bersell, Jay A. Montgomery, Arvindh N. Kanagasundram, Courtney M. Campbell, Wendy K. Chung, Daniela Macaya, David Konecki, Eli Venter, M. Benjamin Shoemaker and Dan M. Roden

  Compound heterozygous variation in KCNQ1 identified by Sanger sequencing. A, Polymerase cha...

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  Compound heterozygous variation in KCNQ1 identified by Sanger sequencing. A, Polymerase chain reaction (PCR) amplification of exon 15 visualized with ethidium bromide results in 2 distinct products in the proband that is absent in parental DNA. B, Allele-specific Sanger sequencing of smaller product, which shows normal (reference) sequence. C, Allele-specific Sanger sequencing of larger PCR product identifies a 52-bp insertion comprising a 15-bp partial duplication of exon 15 and insertion of a 36-adenine tract. D, Schematic representation of the compound heterozygous variants being located in trans to one another. JLNS indicates Jervell and Lange–Nielsen syndrome; and SNV, single nucleotide variant.

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