Double de novo mutations in dilated cardiomyopathy with cardiac arrest.

Abstract:

:Here we report the identification of two novel mutations in a previously asymptomatic young man who suffered an out-of-hospital sudden cardiac arrest. During following evaluation, diagnosis of early stage dilated cardiomyopathy was established, while electrocardiogram monitoring showed frequent complex ventricular arrhythmias, incomplete right bundle branch block and prolonged QT duration. No reversible causes explaining the clinical presentation were established and an automatic implantable cardioverter defibrillator was therefore implanted. Heterozygous mutations in human protein coding genes NKX2-5 and RBM20 are associated with a wide array of pathological phenotypes some of which are sudden cardiac death, unexplained syncope and either combined or isolated congenital heart diseases such as dilated cardiomyopathy.

journal_name

J Electrocardiol

authors

Monaco I,Santacroce R,Casavecchia G,Correale M,Bottigliero D,Cordisco G,Leccese A,Di Biase M,Margaglione M,Brunetti ND

doi

10.1016/j.jelectrocard.2018.12.015

subject

Has Abstract

pub_date

2019-01-01 00:00:00

pages

40-43

eissn

0022-0736

issn

1532-8430

pii

S0022-0736(18)30736-2

journal_volume

53

pub_type

杂志文章
  • Isolated and complicated left anterior fascicular block: a review of suggested electrocardiographic criteria.

    abstract::The electrocardiographic criteria for isolated left anterior fascicular block are reviewed and illustrated. Left anterior fascicular block decreases the voltage in the chest leads and increases the voltage in the limb leads. The usual voltage criteria of left ventricular hypertrophy must be modified appropriately. Cha...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/s0022-0736(83)80024-7

    authors: Milliken JA

    更新日期:1983-04-01 00:00:00

  • The spectrum of electrocardiographic manifestations of acute myocarditis: an expanded understanding.

    abstract:BACKGROUND AND PURPOSE:Descriptions of the significance of ST segment or QRS abnormalities in myocarditis are limited because documentation of the diagnosis has previously required myocardial biopsy. Late gadolinium enhancement (LGE) and T2 weighted imaging in the midventricular wall on cardiac magnetic resonance imagi...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/j.jelectrocard.2014.07.018

    authors: Jhamnani S,Fuisz A,Lindsay J

    更新日期:2014-11-01 00:00:00

  • Variant forms of AV and VA conduction in the canine heart.

    abstract::In 19 pentobarbital anesthetized dogs subjected to right thoracotomy, plunge wire and catheter electrodes were positioned to record and pace from the high right atrium, coronary sinus os, aortic root (for His bundle electrograms), and the right ventricular outflow tract and apex. A deflectable-tip catheter electrode w...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:

    authors: Scherlag BJ,Munsif A,Nakagawa H,Hirao K,Lazzara R

    更新日期:1993-01-01 00:00:00

  • Electrocardiogram interpretation in college athletes: Local institution versus sports cardiology center interpretation.

    abstract:BACKGROUND:Electrocardiogram (ECG) screening in athletes enhances the detection of conditions associated with sudden cardiac death (SCD), but concerns remain for false positive results when conducted outside of specialized centers. This study compared ECG interpretation in college athletes between local physicians and ...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/j.jelectrocard.2020.08.002

    authors: Petek BJ,Drezner JA,Prutkin JM,Owens DS,Tran T,Harmon KG

    更新日期:2020-01-01 00:00:00

  • Accuracy in clinical arrhythmia detection of a real-time Holter system (Oxford Medilog 4500).

    abstract::The accuracy of a real-time analysis Holter system (Oxford Medilog 4500) in detecting ventricular and supraventricular arrhythmias was evaluated. Hand-counted data from randomly selected hours of 152 ECG monitorings of 152 patients were used as the control standard. Accuracy of the system was evaluated on 606 hours fo...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/0022-0736(90)90119-m

    authors: Lanza GA,Lucente M,Rebuzzi AG,Cortellessa MC,Tamburi S,Mancuso P,Neri R,Manzoli U

    更新日期:1990-10-01 00:00:00

  • Acquired forms of the Brugada syndrome.

    abstract::The Brugada syndrome is characterized by ST-segment elevation in the right precordial leads (V1 through V3) and an episode of ventricular fibrillation in the absence of structural heart disease. SCN5A, the gene encoding the alpha subunit of the sodium channel, is the only gene thus far linked to the Brugada syndrome b...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章,评审

    doi:10.1016/j.jelectrocard.2005.06.005

    authors: Shimizu W

    更新日期:2005-10-01 00:00:00

  • Alterations in the QRS complex in the offspring of patients with metabolic syndrome and diabetes mellitus: early evidence of cardiovascular pathology.

    abstract:OBJECTIVE:This study was undertaken to evaluate the nature and onset of changes in the QRS complex in the offspring of patients with diabetes mellitus (DM) and metabolic syndrome (MetS). METHODS AND METHODS:A total of 529 subjects, divided into 5 groups, were included in the study: (i) group DM (n = 92), patients with...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/j.jelectrocard.2012.02.004

    authors: Bacharova L,Krivosikova Z,Wsolova L,Gajdos M

    更新日期:2012-05-01 00:00:00

  • ST analysis of Holter tapes.

    abstract::In recent years, it has become increasingly clear that for an important subset of patients with coronary artery disease, many or all of their ischemic episodes are not accompanied by anginal pain. For these patients, it is desirable to detect these ischemic episodes as periods of ST-segment depression on Holter tapes....

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/s0022-0736(10)80019-6

    authors: Hubelbank M

    更新日期:1992-01-01 00:00:00

  • Mechanism of tachycardia-dependent appearance of ventricular extrasystoles in concealed bigeminy.

    abstract::A case of concealed ventricular bigeminy is reported in which the number of sinus QRS complexes intervening between two successive noninterpolated extrasystoles was always uneven. Coupling intervals of manifest extrasystoles to the preceding sinus QRS complexes were almost fixed and much longer than sinus QT intervals...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章,评审

    doi:10.1016/s0022-0736(96)80100-2

    authors: Kinoshita S,Tanabe Y,Satoh T

    更新日期:1996-10-01 00:00:00

  • Mechanisms of ST change in partial thickness ischemia.

    abstract::The origin of ST depression in ischemia remains poorly understood. The accepted source is of intracellular current flowing between the ischemic and non ischaemic muscle both in systole and diastole such that the AC recorded electrocardiogram shows ST elevation over the ischemic area. The difficulty comes with partial ...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/j.jelectrocard.2003.09.002

    authors: Kilpatrick D,Johnston PR,Li DS

    更新日期:2003-01-01 00:00:00

  • More than meets the eye: False code STEMI.

    abstract::In patients with suspected ST elevation myocardial infarction, it is of paramount importance to identify artifacts on the resting electrocardiogram that may be erroneously interpreted as ST segment deviations in order to prevent administration of potentially harmful pharmacotherapy and invasive coronary angiography. I...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/j.jelectrocard.2018.05.009

    authors: Sud M,Chauhan VS,Madan M

    更新日期:2018-01-01 00:00:00

  • Normal limits of the electrocardiogram in Indians.

    abstract:AIMS:The objective of the study was to develop normal limits of the ECG in an apparently healthy population of South Asians living in India. METHODS:Three centres contributed to recording 12 lead ECGs on identical digital electrocardiographs. Apparently healthy volunteers were recruited and ECGs were first transferred...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章,多中心研究

    doi:10.1016/j.jelectrocard.2015.04.013

    authors: Macfarlane PW,Lloyd SM,Singh D,Hamde S,Clark E,Devine B,Francq BG,Kumar V

    更新日期:2015-07-01 00:00:00

  • Ventriculoatrial conduction in complete atrioventricular block.

    abstract::The case of a patient with complete atrioventricular block with capability of rapid ventriculoatrial conduction with unusual behavior is presented. Potential mechanisms are discussed. ...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/j.jelectrocard.2012.03.005

    authors: Arias MA,Jiménez-López J,Pachón M,Jerez-Valero M,Puchol A,Rodríguez-Padial L

    更新日期:2012-07-01 00:00:00

  • T loop in posterior myocardial infarction: a useful clue to vectorcardiographic diagnosis.

    abstract::In order to differentiate posterior (posterolateral) myocardial infarction (PMI) from the anterior shift of the QRS loop in "normal variant" cases using a vectorcardiogram, the T loop as well as the QRS loop in the transverse plane (TP) were analyzed in 34 elderly Japanese males with angiographically-proven PMI and in...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/s0022-0736(86)80017-6

    authors: Takatsu F,Osugi J,Nagaya T,Uwatoko M,Watabe S,Ishikawa H

    更新日期:1986-04-01 00:00:00

  • The role of pacing-induced dyssynchrony in left ventricular remodeling associated with long-term right ventricular pacing for atrioventricular block.

    abstract:AIMS:Patients with atrioventricular (AV) block can develop left ventricular (LV) dysfunction with long-term right ventricular pacing (RVP). We investigated the role of RVP-induced LV dyssynchrony in this adverse remodeling. METHODS AND RESULTS:Nineteen patients with normal LV function undergoing pacemaker implantation...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/j.jelectrocard.2012.04.001

    authors: Pap R,Gallardo R,Rónaszéki D,Ágoston G,Traykov VB,Sághy L,Varga A,Forster T

    更新日期:2012-07-01 00:00:00

  • Accuracy of localization of acute myocardial infarction by 12 lead electrocardiography.

    abstract::Until recently, ECG accuracy in localizing acute myocardial infarction (AMI) could be assessed only by comparing the ECGs with autopsy findings. This approach, however, preselected patients, including only those who died. It is possible that this postmortem group of patients would be different from the whole populatio...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/s0022-0736(82)80014-9

    authors: Yasuda T,Ribeiro LG,Holman BL,Alpert JS,Maroko PR

    更新日期:1982-04-01 00:00:00

  • Using inverse electrocardiography to image myocardial infarction--reflecting on the 2007 PhysioNet/Computers in Cardiology Challenge.

    abstract::The goal of the 2007 PhysioNet/Computers in Cardiology Challenge was to try to establish how well it is possible to characterize the location and extent of old myocardial infarcts using electrocardiographic evidence supplemented by anatomical imaging information. A brief overview of the challenge and how different cha...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/j.jelectrocard.2008.07.022

    authors: Dawoud F,Wagner GS,Moody G,Horácek BM

    更新日期:2008-11-01 00:00:00

  • Brugada syndrome phenotype cardiac arrest in a young patient unmasked during the acute phase of amiodarone infusion: disclosure and aggravation of Brugada electrocardiographic pattern.

    abstract::We report a case of an outpatient cardiac arrest due to ventricular fibrillation and resuscitated with external automated defibrillator shocks in which acute amiodarone infusion unmasked a Brugada phenotype electrocardiographic pattern. Possible interferences by this drug and suitable therapeutic actions are discussed...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/j.jelectrocard.2012.02.005

    authors: D'Aloia A,Vizzardi E,Bugatti S,Zanini G,Bontempi L,Curnis A

    更新日期:2012-07-01 00:00:00

  • Spatial characteristics of atrial fibrillation electrocardiograms.

    abstract:BACKGROUND:The present study investigates spatial properties of atrial fibrillation (AF) by analyzing vectorcardiogram loops synthesized from 12-lead electrocardiograms (ECGs). METHODS:After atrial signal extraction, spatial properties are characterized through analysis of successive, fixed-length signal segments and ...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/j.jelectrocard.2007.10.006

    authors: Richter U,Stridh M,Bollmann A,Husser D,Sörnmo L

    更新日期:2008-03-01 00:00:00

  • Noninvasive risk stratification in postinfarction patients with severe left ventricular dysfunction and methodology of the MADIT II noninvasive electrocardiology substudy.

    abstract::Sudden cardiac death occurs as a result of a complex interplay of changes in myocardial substrate, imbalance of autonomic regulation of the heart, and myocardial vulnerability. Noninvasive electrocardiology serves as a comprehensive tool for investigating factors representing mechanistic pathways leading to cardiac ev...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章,评审

    doi:10.1016/j.jelectrocard.2003.09.022

    authors: Zareba W,Moss AJ

    更新日期:2003-01-01 00:00:00

  • The electrocardiographic image surface revisited.

    abstract::An image torso may be viewed as a one-to-one transform of a physical volume conductor to a geometric form which defines both the axis and sensitivity of any electrocardiographic connection. In this report, the image surfaces of laminar, spherical, rectangular and humanoid physical torsos are explored theoretically and...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/s0022-0736(77)80037-x

    authors: Brody DA,Mirvis DM,Keller FW,Cox JW,Ideker RE

    更新日期:1977-01-01 00:00:00

  • Effect of nitroglycerin on ST potentials in the post-acute phase of myocardial infarction.

    abstract::Thoracic electromaps were recorded before and after sublingual nitroglycerin (NG) in 26 subjects 15 and 30 days after acute myocardial infarction (MI), in order to evaluate the effect of the drug on injury potentials. Ten patients with documented left ventricular aneurysm were also studied 5 to 46 months after acute M...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/s0022-0736(81)81007-2

    authors: De Ambroggi L,Landolina M,Todeschini P,Galdangelo F,Ravizza P

    更新日期:1981-10-01 00:00:00

  • Alternating reversed wenckebach periodicity: Concealed electrotonic conduction as a possible mechanism.

    abstract::Electrocardiograms were taken from a 67-year-old man with 2:1 atrioventricular block in whom alternating reversed Wenckebach periodicity was found. Long PR intervals of alternately conducted P waves progressively shortened until an alternate P wave was blocked. After an alternate P wave was blocked, the next alternate...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1054/jelc.2003.50010

    authors: Katoh T,Kinoshita S,Tsujimura Y,Sasaki Y

    更新日期:2003-01-01 00:00:00

  • Impact of number of co-existing rotors and inter-electrode distance on accuracy of rotor localization.

    abstract:BACKGROUND:Conflicting evidence exists on the efficacy of focal impulse and rotor modulation on atrial fibrillation ablation. A potential explanation is inaccurate rotor localization from multiple rotors coexistence and a relatively large (9-11mm) inter-electrode distance (IED) of the multi-electrode basket catheter. ...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/j.jelectrocard.2017.08.032

    authors: Aronis KN,Ashikaga H

    更新日期:2018-01-01 00:00:00

  • Nicorandil attenuates both temporal and spatial repolarization alternans.

    abstract::T-wave alternans (TWA) on the electrocardiogram have been frequently associated with long QT syndrome (LQTS) and abrupt rate change. The present study investigated the effect of the potassium channel opener nicorandil on the repolarization alternans at the endocardium and the epicardium in the left ventricle. Electroc...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1054/jelc.2000.8398

    authors: Fujimoto Y,Kusano KF,Morita H,Hong K,Yamanari H,Ohe T

    更新日期:2000-07-01 00:00:00

  • Natural course of electrocardiographic components and stages in the first twelve hours of acute myocardial infarction.

    abstract::Time course evolution of R, Q, T and ST components of the electrocardiogram during the first 12 hours of an acute myocardial infarction was studied. A comparison between anterior-extensive and anteroseptal wall infarctions (anterior group), and inferior-extensive and inferior wall infarction (inferior group) showed ap...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/s0022-0736(87)80098-5

    authors: Klainman E,Sclarovsky S,Lewin RF,Topaz O,Farbstein H,Pinchas A,Fohoriles L,Agmon J

    更新日期:1987-04-01 00:00:00

  • The synthesized vectorcardiogram resembles the measured vectorcardiogram in patients with dyssynchronous heart failure.

    abstract:BACKGROUND:The use of vectorcardiography (VCG) has regained interest, however, original Frank-VCG equipment is rare. This study compares the measured VCGs with those synthesized from the 12-lead electrocardiogram (ECG) in patients with heart failure and conduction abnormalities, who are candidate for cardiac resynchron...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/j.jelectrocard.2015.04.001

    authors: Engels EB,Alshehri S,van Deursen CJ,Wecke L,Bergfeldt L,Vernooy K,Prinzen FW

    更新日期:2015-07-01 00:00:00

  • Relation between ECG strain pattern and left ventricular morphology, left ventricular function, and DPTI/SPTI ratio in patients with aortic regurgitation.

    abstract::The relative contributions of left ventricular structural changes, dysfunction, and subendocardial ischemia in determining electrocardiographic repolarization abnormalities were assessed in 53 patients with chronic, pure aortic regurgitation and no evidence of coronary artery disease. Thirty-six patients with an abnor...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/s0022-0736(94)80001-4

    authors: Badano L,Rubartelli P,Giunta L,Della Rovere F,Miccoli F,Lucatti A

    更新日期:1994-07-01 00:00:00

  • Importance of hepatitis C coinfection in the development of QT prolongation in HIV-infected patients.

    abstract:BACKGROUND:Case reports and unblinded studies suggest that human immunodeficiency virus (HIV) disease is associated with QT prolongation and torsade de pointes ventricular tachycardia. Hepatitis C coinfection is common in patients with HIV disease, and cirrhosis is also associated with QT prolongation. We therefore und...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章

    doi:10.1016/j.jelectrocard.2005.09.001

    authors: Nordin C,Kohli A,Beca S,Zaharia V,Grant T,Leider J,Marantz P

    更新日期:2006-04-01 00:00:00

  • Asymptomatic coronary artery disease detection: update 1996. A screening protocol using 16-lead high-resolution ECG, ultrafast CT, exercise testing, and radionuclear imaging.

    abstract::The authors have proposed a new four-step screening algorithm to detect asymptomatic coronary artery disease (CAD) in flight school candidates, cadets, and rated flyers of the Unites States Air Force (USAF). In step 1, the USAF Armstrong Laboratory (USAF/AL) risk profile and improved 16-lead high-resolution electrocar...

    journal_title:Journal of electrocardiology

    pub_type: 杂志文章,评审

    doi:10.1016/s0022-0736(96)80043-4

    authors: Selvester RH,Ahmed J,Tolan GD

    更新日期:1996-01-01 00:00:00