Justin D. Smith, MD, Jeffrey M. Vinocur, MD HeartRhythm Case Reports

Slides:

Advertisements

Similar presentations

Date of download: 6/2/2016 Copyright © The American College of Cardiology. All rights reserved. From: Long-Term Follow-Up of a Pediatric Cohort With Short.

Advertisements

Kuan-Rau Chiou, MD, Chien-Tung Chu, MD, Min-Ji Charng, MD, PhD

Augmented Vector Right Lead: A Game Changer in Acute Coronary Syndrome

Sudden Cardiac Death, Mitral Valve Prolapse, and Long QT Syndrome

Volume 8, Issue 11, Pages (November 2011)

Inherited Arrhythmias: Of Channels, Currents, and Swimming

Erroneous shock by an AED: Importance of obtaining AED tracing to prevent inappropriate ICD implantation Brian J. Cross, MD, Mark S. Link, MD, FHRS

A unique case of pulmonary embolism presenting as a paroxysmal atrial tachycardia instigated only by recumbency and stooping Nagesh Chopra, MD HeartRhythm.

Genotype-phenotype-guided medical and surgical intervention in long QT syndrome Robyn J. Hylind, MS, CGC, Virginie Beausejour Ladouceur, MD, Francis Fynn-Thompson,

A 35-year effective treatment of catecholaminergic polymorphic ventricular tachycardia with propafenone Alexandra Marx, MD, Björn Lange, MD, Carsten.

Prakash G. Suryanarayana, MD, David S. Frankel, MD, FHRS, Francis E

Is it bradycardia or something else causing symptoms?

Normalization of QT interval duration in a long QT syndrome patient during pregnancy and the postpartum period due to sex hormone effects on cardiac repolarization

Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3- specific calmodulinopathy Marie-A. Chaix, MD, MSc, Tamara T. Koopmann, PhD,

Ruchit Shah, MD, Vineet Kumar, MD, FHRS HeartRhythm Case Reports

Use of topical lidocaine in eliminating mechanically stimulated ventricular fibrillation in a patient with short QT syndrome Maria J. Farag, BS, Joseph.

HeartRhythm Case Reports

Is variant pathogenicity in the eye of the beholder

Santiago O. Valdés, MD, Andrew P. Landstrom, MD, PhD, Andrew E

Successful prenatal management of ventricular tachycardia and second-degree atrioventricular block in fetal long QT syndrome Akira Miyake, MD, Heima.

Increased threshold in nonselective His-bundle pacing suspected to be caused by amiodarone JoonHyuk Kim, MD, Seth Goldbarg, MD, FHRS, Steven Leung, MD,

Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease- associated large deletion in the SCN5A gene Anders Krogh Broendberg,

Use of intravenous sotalol in newborns with supraventricular tachycardia Hannah Kim, MD, Jennifer Wolff, PharmD, BCPPS, Aarti Dalal, DO, George F. Van.

Heart rate variability in concussed athletes: A case report using the smartphone electrocardiogram Ernest Lai, BS, Kenny Boyd, MS, David Albert, MD,

Atrial pacing for the management of ventricular arrhythmias in Andersen-Tawil syndrome Opeyemi Fadahunsi, MBBS, MPH, Bilal Shaikh, DO, Andrew Rettew,

Flecainide treats a novel KCNJ2 mutation associated with Andersen-Tawil syndrome Hanora A. Van Ert, BSN, Elise C. McCune, Kate M. Orland, MS, Kathleen.

T. Raymond Foley, MD, Mori J. Krantz, MD HeartRhythm Case Reports

Torsades de pointes with pseudo–T wave alternans during rociletinib therapy: A novel manifestation of a rare side effect Alexandra E. Teng, MD, Michael.

Elisa Ebrille, MD, Fernando M. Contreras-Valdes, MD, Peter J

Very late occurrence of complete heart block without preexisting atrioventricular conduction abnormalities: A rare complication after transaortic valvular.

Low room temperature can trigger ventricular fibrillation in J wave syndromes Masaru Yamaki, MD, Nobuyuki Sato, MD, PhD, Rina Imanishi, MD, Hirotsuka.

Beauty and the beat: A complicated case of multifocal ectopic Purkinje-related premature contractions Rachel M.A. ter Bekke, MD, PhD, Miren David, BSc,

A large familial pathogenic Plakophilin-2 gene (PKP2) deletion manifesting with sudden cardiac death and lone atrial fibrillation: Evidence for alternating.

Kevin M. W. Leong, MBBS, MRCP, Henry Seligman, MBBS, MRCP, Amanda M

Complete congenital heart block: A case of multilevel block

Keith Suarez, MD, Ryan Mack, MD, Evan L

Emilio L. Garcia, MD, Robert Kim, MD, Steve S. Hsu, MD, FHRS, John N

A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia Carol A. Wittlieb-Weber, MD, Katrina M.

Recording of isolated very delayed potentials on the right ventricular epicardium in a patient with Brugada syndrome Atsuyuki Watanabe, MD, Hiroshi Morita,

Expanding the electrical phenotype of NKX2-5 mutations: Ventricular tachycardia, atrial fibrillation, and complete heart block within one family Simone.

Intravenous sotalol for conversion of atrial flutter in infants

QRS normalization during atrial pacing in a patient with complete left bundle branch block: What is your diagnosis? Oholi Tovia-Brodie, MD, Yoav Michowitz,

Atrial fibrillation associated with Wolff-Parkinson-White syndrome in a patient with concomitant Brugada syndrome Shaobo Shi, MD, PhD, Tao Liu, MD, PhD,

Early repolarization syndrome caused by de novo duplication of KCND3 detected by next-generation sequencing Samuel Chauveau, MD, Alexandre Janin, PharmD,

Appropriate use of genetics in a young patient with atrioventricular block and family history of sudden cardiac death Johnni Rudbeck-Resdal, MD, Jens.

Jay A. Montgomery, MD, Dan M. Roden, MD, FHRS HeartRhythm Case Reports

Polymorphic ventricular tachycardia due to change in pacemaker programming Ihab Elsokkari, MBBCh, MMed, FRACP, Amir Abdelwahab, MBBCh, MSc, MD, Ratika.

Mitral valve repair results in suppression of ventricular arrhythmias and normalization of repolarization abnormalities in mitral valve prolapse Wael.

Complexity of ranolazine and phenytoin use in an infant with long QT syndrome type 3 Reina Bianca Tan, MD, Sujata Chakravarti, MD, Melissa Busovsky-McNeal,

Long-term follow-up of permanent atrial standstill in a German family with mutation in the SCN5A gene H. Immo Lehmann, MD, Ulf Meltendorf, MD, Helmut.

An unusual cause of HV prolongation

IRX3 variant as a modifier of Brugada syndrome with frequent ventricular fibrillation Yoshitaka Kimura, MD, Takeshi Aiba, MD, PhD, Tetsuo Sasano, MD,

Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long.

Different rate-dependent responses between J waves and the notches on an epicardial local electrogram in a patient with idiopathic ventricular fibrillation

Short QT and atrial fibrillation: A KCNQ1 mutation–specific disease

Familial long QT syndrome and late development of dilated cardiomyopathy in a child with a KCNQ1 mutation: A case report Kiona Y. Allen, MD, Victoria.

Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease Samantha Barratt Ross, BMedSci, Richard D. Bagnall,

Dexamethasone suppresses long QT phenotype in patient with acute promyelocytic leukemia treated with arsenic Jeffrey R. Winterfield, MD, FHRS, David.

Polygenic case of long QT syndrome confirmed through functional characterization informs the interpretation of genetic screening results Malcolm Hoshi,

Annika Winbo, MD, PhD, Annika Rydberg, MD, PhD

Unusual severe hemodynamic failure associated with standard dose of intravenous flecainide for pharmacological cardioversion of atrial fibrillation Aref.

Structural interplay of KV7

Raja Zaghlol, MD, Rama Hritani, MD, Susan O’Donoghue, MD

Syncope on exertion in a young male

Analysis of variable conduction ratios into the atrioventricular node during atrial flutter: Multilevel block theory Kazushi Tanaka, MD, PhD, FACC, Osamu.

Early repolarization syndrome: A case report focusing on dynamic electrocardiographic changes before ventricular arrhythmias and genetic analysis Vern.

Use of topical lidocaine in eliminating mechanically stimulated ventricular fibrillation in a patient with short QT syndrome Maria J. Farag, BS, Joseph.

Jeffrey Munro, DO, Win-Kuang Shen, MD, FHRS, Komandoor Srivathsan, MD

A wide QRS complex tachycardia utilizing an atypical accessory pathway in latent Wolff- Parkinson-White syndrome: Manifestation of anterograde conduction.

Inherited Arrhythmias: Of Channels, Currents, and Swimming

Presentation transcript:

Atypical long QT syndrome phenotype in heterozygous/homozygous KCNQ1 Ala590Thr Justin D. Smith, MD, Jeffrey M. Vinocur, MD HeartRhythm Case Reports Volume 3, Issue 4, Pages 219-223 (April 2017) DOI: 10.1016/j.hrcr.2017.01.007 Copyright © 2017 Heart Rhythm Society Terms and Conditions

Figure 1 Resting electrocardiograms from the proband. A: At age 3 years, with QTc 530 ms and marked repolarization abnormality. B: At age 8 years, with QTc 450 ms and nonspecific flattening of T waves. HeartRhythm Case Reports 2017 3, 219-223DOI: (10.1016/j.hrcr.2017.01.007) Copyright © 2017 Heart Rhythm Society Terms and Conditions

Figure 2 Exercise stress test excerpts from the proband at age 8 years. A: At peak exercise, showing marked repolarization abnormality, QT prolongation, and T-wave alternans. B: At 4 minutes of recovery, showing even further QT prolongation with subtle T-wave alternans. HeartRhythm Case Reports 2017 3, 219-223DOI: (10.1016/j.hrcr.2017.01.007) Copyright © 2017 Heart Rhythm Society Terms and Conditions

Figure 3 Resting electrocardiogram excerpts from the proband’s asymptomatic relatives, A: father, B: mother, C: brother, and D: sister, each showing normal QTc intervals in lead II (420, 420, 400, 410 ms, respectively). E: Abbreviated pedigree indicating the proband (arrow), the complex blood relationship between the proband’s parents, and a cousin who had died suddenly, also born to consanguineous parents. The pedigree is complete for the immediate families of the 2 symptomatic members but omits the very numerous more-distant relatives because of lack of detailed information and for simplicity (eg, the founding couple reportedly had at least 9 children, of which only 5 are shown). HeartRhythm Case Reports 2017 3, 219-223DOI: (10.1016/j.hrcr.2017.01.007) Copyright © 2017 Heart Rhythm Society Terms and Conditions