SCD
MCID: CRD132
MIFTS: 58

Cardiac Conduction Defect (SCD)

Categories: Genetic diseases

Aliases & Classifications for Cardiac Conduction Defect

MalaCards integrated aliases for Cardiac Conduction Defect:

Name: Cardiac Conduction Defect 56 39 17
Sudden Cardiac Death 73 29 6 71
Cardiac Conduction Defect, Susceptibility to 56 13 6
Conduction Disorder of the Heart 71
Death, Sudden, Cardiac 43
Death Sudden Cardiac 54
Scd 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cardiac conduction defect:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 115080
MeSH 43 D016757
UMLS 71 C0085298 C0264886

Summaries for Cardiac Conduction Defect

UniProtKB/Swiss-Prot : 73 Sudden cardiac death: Unexpected rapid death due to cardiovascular collapse in a short time period, generally within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as chest pain and cardiac arrhythmias, particularly ventricular tachycardia, can lead to the loss of consciousness and cardiac arrest followed by biological death.

MalaCards based summary : Cardiac Conduction Defect, also known as sudden cardiac death, is related to progressive familial heart block, type ia and progressive familial heart block, and has symptoms including chest pain An important gene associated with Cardiac Conduction Defect is AKAP10 (A-Kinase Anchoring Protein 10), and among its related pathways/superpathways are Cardiac conduction and cGMP-PKG signaling pathway. The drugs Chlorthalidone and Spironolactone have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and kidney, and related phenotypes are arrhythmia and syncope

More information from OMIM: 115080

Related Diseases for Cardiac Conduction Defect

Diseases related to Cardiac Conduction Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 590)
# Related Disease Score Top Affiliating Genes
1 progressive familial heart block, type ia 33.5 SCN5A MYBPC3 ANK2
2 progressive familial heart block 32.8 SCN5A KCNQ1 KCNH2 DSP
3 peripartum cardiomyopathy 32.0 SCN5A MYH7
4 cardiomyopathy, familial hypertrophic, 1 31.8 MYH7 MYBPC3 KCNQ1
5 naxos disease 31.8 RYR2 DSP
6 cardiomyopathy, familial hypertrophic, 4 31.8 MYH7 MYBPC3
7 long qt syndrome 11 31.5 KCNQ1 ANK2
8 long qt syndrome 14 31.5 SCN5A KCNQ1 KCNH2
9 long qt syndrome 6 31.4 SCN5A KCNQ1 KCNH2 ANK2
10 long qt syndrome 5 31.4 SCN5A KCNQ1 KCNH2 ANK2
11 long qt syndrome 10 31.4 SCN5A KCNQ1 ANK2
12 short qt syndrome 31.2 SCN5A RYR2 KCNQ1 KCNH2 ANK2
13 cardiac arrhythmia, ankyrin-b-related 31.2 SCN5A RYR2 KCNQ1 KCNH2 ANK2
14 andersen cardiodysrhythmic periodic paralysis 31.0 SCN5A RYR2 KCNQ1 KCNH2 ANK2
15 long qt syndrome 2 31.0 SCN5A RYR2 KCNQ1 KCNH2 ANK2
16 long qt syndrome 13 30.9 SCN5A KCNQ1 KCNH2 ANK2
17 long qt syndrome 12 30.9 SCN5A KCNQ1 KCNH2 ANK2
18 long qt syndrome 9 30.9 SCN5A KCNQ1 KCNH2 ANK2
19 laminopathy 30.4 SCN5A LMNA
20 familial long qt syndrome 30.4 SCN5A KCNQ1 KCNH2
21 right bundle branch block 30.3 SCN5A KCNH2
22 first-degree atrioventricular block 30.3 SCN5A MYH7 LMNA
23 wolff-parkinson-white syndrome 30.1 SCN5A RYR2 MYH7 MYBPC3 KCNQ1 KCNH2
24 familial short qt syndrome 30.1 KCNQ1 KCNH2
25 left bundle branch hemiblock 30.0 SCN5A RYR2 LMNA DSP
26 third-degree atrioventricular block 29.9 SCN5A KCNH2
27 sudden infant death syndrome 29.8 SCN5A RYR2 KCNQ1 KCNH2
28 brugada syndrome 1 29.8 SCN5A RYR2 KCNH2
29 cardiac arrhythmia 29.7 SCN5A RYR2 KCNQ1 KCNH2 ANK2
30 brugada syndrome 4 29.6 SCN5A KCNQ1 KCNH2
31 supravalvular aortic stenosis 29.5 SCN5A KCNH2
32 danon disease 29.5 MYH7 MYBPC3
33 lipoprotein quantitative trait locus 29.5 SCN5A RYR2 KCNH2
34 cardiomyopathy, dilated, 1e 29.3 SCN5A MYH7 LMNA DSP
35 familial isolated dilated cardiomyopathy 29.2 SCN5A PLN MYH7 MYBPC3
36 syncope 29.2 SCN5A RYR2 KCNQ1 KCNH2
37 sick sinus syndrome 29.0 SCN5A LMNA KCNQ1 ANK2
38 left ventricular noncompaction 29.0 SCN5A RYR2 MYH7 MYBPC3 LMNA KCNQ1
39 atrioventricular block 28.9 SCN5A RYR2 MYH7 LMNA KCNQ1 KCNH2
40 sinoatrial node disease 28.9 SCN5A RYR2 KCNQ1 KCNH2 ANK2
41 jervell and lange-nielsen syndrome 1 28.8 SCN5A KCNQ1 KCNH2 ANK2
42 ventricular fibrillation, paroxysmal familial, 1 28.8 SCN5A RYR2 KCNQ1 KCNH2 DSP
43 timothy syndrome 28.6 SCN5A RYR2 KCNQ1 KCNH2 ANK2
44 long qt syndrome 3 28.4 SCN5A RYR2 KCNQ1 KCNH2 ANK2
45 long qt syndrome 1 28.4 SCN5A RYR2 MYH7 MYBPC3 KCNQ1 KCNH2
46 atrial standstill 1 28.3 SCN5A RYR2 PLN MYH7 MYBPC3 LMNA
47 atrial fibrillation 28.1 SCN5A RYR2 MYH7 MYBPC3 LMNA KCNQ1
48 noonan syndrome with multiple lentigines 28.0 SCN5A RYR2 MYH7 MYBPC3 KCNQ1 KCNH2
49 arrhythmogenic right ventricular cardiomyopathy 27.8 SCN5A RYR2 PLN MYH7 LMNA KCNH2
50 congestive heart failure 27.8 SCN5A RYR2 PLN MYH7 MYBPC3 LMNA

Graphical network of the top 20 diseases related to Cardiac Conduction Defect:



Diseases related to Cardiac Conduction Defect

Symptoms & Phenotypes for Cardiac Conduction Defect

Human phenotypes related to Cardiac Conduction Defect:

31
# Description HPO Frequency HPO Source Accession
1 arrhythmia 31 HP:0011675
2 syncope 31 HP:0001279

Symptoms via clinical synopsis from OMIM:

56
Cardiac:
arrhythmia
progressive atrial conduction defect

Misc:
sudden death

Neuro:
syncope

Lab:
fatty and mononuclear cell infiltration in the atrioventricular conduction system and the main left bundle branch

Clinical features from OMIM:

115080

UMLS symptoms related to Cardiac Conduction Defect:


chest pain

MGI Mouse Phenotypes related to Cardiac Conduction Defect:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 AKAP10 DSP FKBP1B KCNH2 KCNQ1 LMNA
2 muscle MP:0005369 9.28 DSP FKBP1B KCNH2 KCNQ1 LMNA MYBPC3

Drugs & Therapeutics for Cardiac Conduction Defect

Drugs for Cardiac Conduction Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 245)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Chlorthalidone Approved Phase 4 77-36-1 2732
2
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
3
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
4
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
5
Enalapril Approved, Vet_approved Phase 4 75847-73-3 40466924 5362032
6
Enalaprilat Approved Phase 4 76420-72-9 6917719
7
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
8
Nicorandil Approved, Investigational Phase 4 65141-46-0 47528
9
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
10
Empagliflozin Approved Phase 4 864070-44-0
11
Clonidine Approved Phase 4 4205-90-7 2803
12
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
13
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
14
Racepinephrine Approved Phase 4 329-65-7 838
15
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 10204 6013
16
Testosterone enanthate Approved Phase 4 315-37-7 9416
17
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
18
Methyltestosterone Approved Phase 4 58-18-4 6010
19
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
20
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
21
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
22 Diuretics, Potassium Sparing Phase 4
23 Mineralocorticoids Phase 4
24 Mineralocorticoid Receptor Antagonists Phase 4
25 Eicosapentaenoic acid ethyl ester Phase 4
26 Antiviral Agents Phase 4
27 HIV Protease Inhibitors Phase 4
28
protease inhibitors Phase 4
29 2-(3-(4-ethoxybenzyl)-4-chlorophenyl)-6-hydroxymethyltetrahydro-2H-pyran-3,4,... Phase 4
30 Dopamine Agents Phase 4
31 Neurotransmitter Agents Phase 4
32 Adrenergic Agents Phase 4
33 Analgesics Phase 4
34 Micronutrients Phase 4
35 Trace Elements Phase 4
36 Vitamins Phase 4
37 Vitamin B Complex Phase 4
38 Nutrients Phase 4
39 Folate Phase 4
40 Vitamin B9 Phase 4
41 Central Nervous System Stimulants Phase 4
42 Sympatholytics Phase 4
43 Anti-Infective Agents Phase 4
44 Anti-Bacterial Agents Phase 4
45 Norgestimate, ethinyl estradiol drug combination Phase 4
46 Adrenergic beta-Agonists Phase 4
47 Adrenergic alpha-Agonists Phase 4
48 Epinephryl borate Phase 4
49 Adrenergic Agonists Phase 4
50 Sympathomimetics Phase 4

Interventional clinical trials:

(show top 50) (show all 543)
# Name Status NCT ID Phase Drugs
1 Does the Early Use of Sodium Bicarbonate Improve Results of Cardiopulmonary Resuscitation Following Out-of-Hospital Cardiac Arrest - a Prospective, Controlled Clinical Trial Unknown status NCT01377337 Phase 4 sodium bicarbonate
2 Comparison of Enteral Versus Intravenous Potassium Supplementation in Hypokalemia in Post Cardiac Surgery Pediatric Cardiac Intensive Care Patients - Prospective Open Label Randomized Control Trial Unknown status NCT02015962 Phase 4 Intravenous potassium chloride;Oral potassium chloride
3 "Test-No Test" Implantable Cardioverter Defibrillator Pilot Study (TNT-ICD) Unknown status NCT01905007 Phase 4
4 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Unknown status NCT00879060 Phase 4 spironolactone
5 Effects of Atrial Rate-adaptive Pacing on Exercise Capacity in Patients With Chronic Heart Failure Complicated by Chronotropic Incompetence Unknown status NCT01016431 Phase 4
6 The Effect of Empagliflozin Versus Placebo on the Rate of Arrhythmic Events in Heart Failure Patients Unknown status NCT03271879 Phase 4 Empagliflozin at a dose of 10 mg/day
7 A Randomised Open Label, Blinded End Point Trial to Compare the Effects of Spironolactone With Chlortalidone on LV Mass in Stage 3 Chronic Kidney Disease (SPIRO-CKD) Unknown status NCT02502981 Phase 4 Spironolactone;Chlortalidone
8 Predictive Risk Stratification Through T Variability in ICD Patients Without Pacing Indications Completed NCT00560768 Phase 4
9 Phase 4 Study That Compares the DFT (Defibrillation Threshold) Efficacy of 3 Different Membrane Time Constant Based Biphasic Defibrillation Waveforms Completed NCT00311181 Phase 4
10 Effect of Eicosapentaenoic Acid (EPA) on Major Cardiovascular Events in Hypercholesterolemic Patients: the Japan EPA Lipid Intervention Study (JELIS) Completed NCT00231738 Phase 4 Eicosapentaenoic acid ethyl ester(EPADEL Capsule 300 TM)
11 Effect of Cardiac Resynchronization Therapy (CRT) on the Defibrillation Threshold (DFT) Estimates Completed NCT00626093 Phase 4
12 Survival of Patients With Primary Prophylactic ICD Indication, Provided With Intensified Care After 1st ICD Therapy Completed NCT00619593 Phase 4
13 Physiologic Evaluation of Anomalous Right Coronary Artery Stenosis Completed NCT01133054 Phase 4
14 hs Troponin Release in Relation to Different ICD-Implantation Procedures Completed NCT01230086 Phase 4
15 IRIS - Immediate Risk-stratification Improves Survival - Joint Study of the German University Hospitals and German Society of Leading Cardiological Hospital Physicians (ALKK) Completed NCT00157768 Phase 4
16 Effects of Testosterone on Myocardial Repolarization in Patients With Hypogonadism With/Without Chronic Heat Failure (NYHA Class I-II) Completed NCT03126656 Phase 4 Testosterone Undecanoate
17 OptiLink HF Study (Optimization of Heart Failure Management Using Medtronic OptiVol® Fluid Status Monitoring and Medtronic CareLink® Network) Completed NCT00769457 Phase 4
18 Omacor; Omega-3-Acid Ethyl Ester 90 (n-3 PUFA) and Risk Factors in HIV Infected Patients Treated With HAART, With Special Focus on Lipids Completed NCT00296153 Phase 4 Omega-3-acid ethyl esters 90
19 Reduction And Prevention of Tachyarrhythmias and Shocks Using Reduced Ventricular Pacing With Atrial Algorithms (The RAPTURE Study) Completed NCT00787800 Phase 4
20 Monitoring of Fluid Status in Heart Failure Patients by Intrathoracic Impedance Measurement in Japan Completed NCT01221649 Phase 4
21 Prospective, Randomized, Open-Label Study in Patients With Mild-to-Moderate Essential Hypertension to Compare the Antihypertensive Efficacy Determined by Ambulatory Blood Pressure Monitoring of Valsartan and Enalapril After Missing One Dose Completed NCT00302705 Phase 4 Valsartan, Enalapril
22 Monitoring of Fluid Status in Heart Failure Patients by Intrathoracic Impedance Measurement Completed NCT00711360 Phase 4
23 Implantable Cardioverter Defibrillator Versus Optimal Medical Therapy In Patients With Variant Angina Manifesting as Aborted Sudden Cardiac Death Recruiting NCT02845531 Phase 4 Optimal Medical Therapy
24 The Effects of SGLT Inhibition on Diabetic Cardiomyopathy Recruiting NCT04200586 Phase 4 Dapagliflozin
25 Patiromer Efficacy to Reduce Episodic Hyperkalemia in End Stage Renal Disease Patients Treated With Hemodialysis (PEARL-HD) Recruiting NCT03781089 Phase 4 Patiromer Oral Powder Product
26 Effects of Nicorandil on Cardiovascular Events in Patients With Coronary Artery Disease Receiving Hemodialysis Active, not recruiting NCT01475123 Phase 4 Nicorandil
27 Studies of Empagliflozin and Its Cardiovascular, Renal and Metabolic Effects in Patients With Diabetes Mellitus and Pre-diabetes and Heart Failure (SUGAR-DM-HF) Active, not recruiting NCT03485092 Phase 4 Empagliflozin 10 MG;Placebo Oral Tablet
28 Carboxylesterase 1 Genetic Variation and Methylphenidate in ADHD Active, not recruiting NCT03781752 Phase 4 Methylphenidate
29 Anxiety-mediated Impairments in Large Elastic Artery Function and the Autonomic Nervous System Active, not recruiting NCT03109795 Phase 4 Clonidine Pill;Hydrochlorothiazide
30 Genetics of QT Response to Moxifloxacin Enrolling by invitation NCT01936480 Phase 4 Moxifloxacin 400mg once time;Placebo
31 CanROC Epinephrine Dose: Optimal Versus Standard Evaluation Trial (CanROC EpiDOSE Trial) Not yet recruiting NCT03826524 Phase 4 Epinephrine
32 52 Week RCT to Investigate the Effect of Testosterone Undecanoate vs Placebo on Intrahepatic Fat Content in Obese Men With T2DM and Hypogonadism and Subsequent 108 Week Open Label Phase to Investigate Effects on Cardiometabolic Parameters Not yet recruiting NCT03851627 Phase 4 Testosterone Undecanoate;Placebo
33 Conducted AF-Response Study (Study to Evaluate the Conducted AF-Response-Algorithm in Patients Suffering From Heart Failure and Atrial Fibrillation Treated With InSync III Marquis) Terminated NCT00170313 Phase 4
34 Evaluation of the Effect of Double Inhibition of Angiotensin II AT1 Receptor and Neprilysin Activity on Sympathic Nervous System Activity in Patient With Heart Failure Terminated NCT02787798 Phase 4 valsartan/sacubitril 100 mg;valsartan/sacubitril 200 mg
35 A Double-blind, Randomized, Parallel 2- Arm Study to Compare the Efficacy of Ertugliflozin Versus Hydrochlorothiazide in Reducing Sympathetic Neural Overactivity in Patients With Hypertension and Recently-diagnosed Type 2 Diabetes Who Are Receiving Background Standard-of-care Cardio-metabolic Therapy With Metformin, an Angiotensin Converting Enzyme Inhibitor or Angiotensin Receptor Blocker, and a Statin. Withdrawn NCT03640221 Phase 4 Ertugliflozin;Hydrochlorothiazide 12.5mg
36 Evaluation of Arrhythmic Risk in Myotonic Dystrophy Type I (DM 1) Unknown status NCT00127582 Phase 3
37 LUcas Continuous Chest Compressions in Out-of-hospital Cardiac Arrest Treatment. The LUCAT Trial Unknown status NCT01521208 Phase 3
38 Hemodynamic Efficiency of an Hemodialysis Treatment With High Permeability (HDHP) During the Early Period of Post-resuscitation Shock Unknown status NCT00780299 Phase 3
39 Vest Prevention of Early Sudden Death and PREDiction of ICD Therapies Unknown status NCT00628966 Phase 3
40 DAPERB 3,4-DiAminoPyridine and Electrophysiological Response in Brugada Syndrome Unknown status NCT00701077 Phase 3 3,4-Di-amino-Pyridine;placebo
41 Ovatio DR and VR Implantable Cardioverter Defibrillators Post-approval Study Completed NCT00586378 Phase 3
42 Diuretics, Hypertension, and Arrhythmias Clinical Trial Completed NCT00000525 Phase 3 hydrochlorothiazide;triamterene;chlorthalidone
43 OMEGA: A Prospective, Randomised, Double-Blind, Placebo-Controlled Multicentre Study in Patients Who Survived Acute Myocardial Infarction to Investigate the Efficacy and Safety of 1 Gram Ω-3-Fatty Acid Ethyl Esters (Ω-3FAE) Daily Versus Placebo to Reduce the Risk of Sudden Cardiac Death. Completed NCT00251134 Phase 3 Zodin (drug);Olive oil (placebo)
44 Multicenter Unsustained Tachycardia Trial (MUSTT) Completed NCT00000480 Phase 3 anti-arrhythmia agents
45 Prognostic, Anti-arrhythmic, and Ventricular Remodeling Effects of High Dose Fish Oil in Patients With a Recent Myocardial Infarction Completed NCT00729430 Phase 3 Omega-3 Fatty Acids (Fish Oil Supplements);Placebo
46 Effects of Supplementation With Algal Triacylglycerols Versus Placebo on Heart Rate Variability in Elderly Patients Completed NCT00749307 Phase 2, Phase 3
47 Sudden Cardiac Death in Heart Failure Trial (SCD-HeFT) Completed NCT00000609 Phase 3 amiodarone
48 Coronary Artery Bypass Graft (CABG) Patch Trial Completed NCT00000540 Phase 3
49 The Effect of Ranolazine on Cardiac Arrhythmias and Microvolt T- Wave Alternans in Patients With Significant Left Ventricular Dysfunction Completed NCT00998218 Phase 3 Ranolazine;Placebo
50 Beta-Blocker Heart Attack Trial (BHAT) Completed NCT00000492 Phase 3 propranolol

Search NIH Clinical Center for Cardiac Conduction Defect

Cochrane evidence based reviews: death, sudden, cardiac

Genetic Tests for Cardiac Conduction Defect

Genetic tests related to Cardiac Conduction Defect:

# Genetic test Affiliating Genes
1 Sudden Cardiac Death 29

Anatomical Context for Cardiac Conduction Defect

MalaCards organs/tissues related to Cardiac Conduction Defect:

40
Heart, Testes, Kidney, Brain, Endothelial, Lung, Spinal Cord

Publications for Cardiac Conduction Defect

Articles related to Cardiac Conduction Defect:

(show top 50) (show all 14748)
# Title Authors PMID Year
1
Gene-trapped mouse embryonic stem cell-derived cardiac myocytes and human genetics implicate AKAP10 in heart rhythm regulation. 61 6 56
17485678 2007
2
Amino acid variant in the kinase binding domain of dual-specific A kinase-anchoring protein 2: a disease susceptibility polymorphism. 56 6
12646697 2003
3
Protection from cardiac arrhythmia through ryanodine receptor-stabilizing protein calstabin2. 56 61
15073377 2004
4
Familial sudden death syndrome with an abnormal signal-averaged electrocardiogram as a potential marker. 56 61
7631614 1995
5
Familial sudden death. Report of a case and review of the literature. 56
2972532 1988
6
Familial inducible torsade de pointes with normal QT interval. 56
6617684 1983
7
Use of signals in the terminal QRS complex to identify patients with ventricular tachycardia after myocardial infarction. 56
7249291 1981
8
Letter: Familial atrioventricular block. 56
4406256 1974
9
Hereditary progressive atrioventricular conduction defect. A new syndrome? 56
4740717 1973
10
Fatal familial cardiac arrhythmias. Histologic observations on the cardiac conduction system. 56
5016833 1972
11
Sudden unexpected death in three generations. 56
5806048 1969
12
Common RyR2 variants associate with ventricular arrhythmias and sudden cardiac death in chronic heart failure. 61 54
20408814 2010
13
Ryanodine receptor mutations in arrhythmia: The continuing mystery of channel dysfunction. 54 61
20132818 2010
14
Extracellular K+ is a prerequisite for the function and plasma membrane stability of HERG channels. 54 61
20133899 2010
15
The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening. 54 61
20019025 2010
16
Statins and the reduction of sudden cardiac death: antiarrhythmic or anti-ischemic effect? 61 54
20524717 2010
17
Luminal Ca(2+) activation of cardiac ryanodine receptors by luminal and cytoplasmic domains. 54 61
19255753 2009
18
Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations. 61 54
19880069 2009
19
Diplotype analysis of the human cardiac sodium channel regulatory region in Japanese cases of sudden death by unknown causes. 54 61
19822451 2009
20
Brain natriuretic peptide for the prediction of sudden cardiac death and ventricular arrhythmias: a meta-analysis. 61 54
19789399 2009
21
Therapeutic effect of {beta}-adrenoceptor blockers using a mouse model of dilated cardiomyopathy with a troponin mutation. 61 54
19477965 2009
22
Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures. 54 61
19668779 2009
23
Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels. 61 54
19377070 2009
24
Cardiac ankyrins in health and disease. 54 61
19394342 2009
25
Positive selection at codon 38 of the human KCNE1 (= minK) gene and sporadic absence of 38Ser-coding mRNAs in Gly38Ser heterozygotes. 61 54
19660109 2009
26
Role of coupled gating between cardiac ryanodine receptors in the genesis of triggered arrhythmias. 61 54
19429830 2009
27
Immunohistochemical marker for Na+ CP type Valpha (C-20) and heterozygous nonsense SCN5A mutation W822X in a sudden cardiac death induced by mild anaphylactic reaction. 61 54
19318916 2009
28
A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death. 61 54
19328042 2009
29
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. 61 54
19251209 2009
30
Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. 61 54
19204306 2009
31
Amitriptyline activates cardiac ryanodine channels and causes spontaneous sarcoplasmic reticulum calcium release. 61 54
18845675 2009
32
Drug binding to the inactivated state is necessary but not sufficient for high-affinity binding to human ether-à-go-go-related gene channels. 61 54
18701618 2008
33
Heart-hand syndrome of Slovenian type: a new kind of laminopathy. 54 61
18611980 2008
34
Mechanisms of cardiac arrhythmias and sudden death in transgenic rabbits with long QT syndrome. 54 61
18464931 2008
35
A domain peptide of the cardiac ryanodine receptor regulates channel sensitivity to luminal Ca2+ via cytoplasmic Ca2+ sites. 54 61
18038129 2008
36
Endoplasmic reticulum retention and rescue by heteromeric assembly regulate human ERG 1a/1b surface channel composition. 54 61
18048364 2008
37
Clinical heterogeneity in sodium channelopathies. What is the meaning of carrying a genetic mutation? 61 54
17971661 2008
38
Aldosterone modulates I(f) current through gene expression in cultured neonatal rat ventricular myocytes. 54 61
17644563 2007
39
Long QT and Brugada syndrome gene mutations in New Zealand. 61 54
17905336 2007
40
Limb-girdle muscular dystrophy due to emerin gene mutations. 54 61
17620497 2007
41
Ryanodine receptor: a novel therapeutic target in heart disease. 61 54
18221109 2007
42
Added benefit of mineralocorticoid receptor blockade in the primary prevention of sudden cardiac death. 54 61
17562968 2007
43
Acute and chronic management in patients with Brugada syndrome associated with electrical storm of ventricular fibrillation. 54 61
17556186 2007
44
Diminished zonula occludens-1 expression in the failing human heart. 54 61
17502245 2007
45
Sudden cardiac death in Andersen-Tawil syndrome. 61 54
17272325 2007
46
A novel mutation in the SCN5A gene is associated with Brugada syndrome. 54 61
17141278 2007
47
Role of ryanodine receptor mutations in cardiac pathology: more questions than answers? 61 54
17052226 2006
48
Ankyrins and human disease: what the electrophysiologist should know. 54 61
16800854 2006
49
Roles of cardiac ryanodine receptor in heart failure and sudden cardiac death. 54 61
16701909 2006
50
Cardiomyopathies and sudden cardiac death caused by RyR2 mutations: are the channels the beginning and the end? 61 54
16828071 2006

Variations for Cardiac Conduction Defect

ClinVar genetic disease variations for Cardiac Conduction Defect:

6 (show all 43) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DSP NM_004415.4(DSP):c.2528C>A (p.Ser843Ter)SNV Pathogenic 374137 rs1057518920 6:7575619-7575619 6:7575386-7575386
2 MYBPC3 NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)SNV Pathogenic/Likely pathogenic 36604 rs36211723 11:47360071-47360071 11:47338520-47338520
3 PLN NM_002667.5(PLN):c.116T>G (p.Leu39Ter)SNV Pathogenic/Likely pathogenic 13637 rs111033560 6:118880200-118880200 6:118559037-118559037
4 AKAP10 NM_007202.4(AKAP10):c.1936A>G (p.Ile646Val)SNV risk factor 5404 rs203462 17:19812541-19812541 17:19909228-19909228
5 RYR2 NM_001035.3(RYR2):c.243G>A (p.Met81Ile)SNV Likely pathogenic 684806 1:237494252-237494252 1:237330952-237330952
6 SCN5A NM_000335.5(SCN5A):c.5894C>G (p.Ser1965Cys)SNV Likely pathogenic 684784 3:38591966-38591966 3:38550475-38550475
7 SCN5A NM_000335.4(SCN5A):c.2861_2862GA[2] (p.Glu955fs)short repeat Conflicting interpretations of pathogenicity 418944 rs756159737 3:38622784-38622785 3:38581293-38581294
8 MT-TP , MT-TT m.15923A>GSNV Conflicting interpretations of pathogenicity 39575 rs1556424691 MT:15923-15923 MT:15923-15923
9 TNNT2 NM_001276345.2(TNNT2):c.720-4G>TSNV Conflicting interpretations of pathogenicity 43664 rs201753429 1:201330501-201330501 1:201361373-201361373
10 RYR2 NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)SNV Conflicting interpretations of pathogenicity 43769 rs200525962 1:237730032-237730032 1:237566732-237566732
11 ABCC9 NM_020297.3(ABCC9):c.1887G>T (p.Glu629Asp)SNV Conflicting interpretations of pathogenicity 45392 rs150036969 12:22040784-22040784 12:21887850-21887850
12 TTN NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)SNV Conflicting interpretations of pathogenicity 46820 rs375266859 2:179571371-179571371 2:178706644-178706644
13 MYH6 NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)SNV Conflicting interpretations of pathogenicity 14151 rs143978652 14:23862646-23862646 14:23393437-23393437
14 ANK2 NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)SNV Conflicting interpretations of pathogenicity 18056 rs72544141 4:114269433-114269433 4:113348277-113348277
15 SCN5A NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)SNV Conflicting interpretations of pathogenicity 67769 rs199473182 3:38622706-38622706 3:38581215-38581215
16 SCN5A NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)SNV Conflicting interpretations of pathogenicity 67835 rs199473603 3:38603958-38603958 3:38562467-38562467
17 SCN5A NM_000335.5(SCN5A):c.5035G>A (p.Ala1679Thr)SNV Conflicting interpretations of pathogenicity 67952 rs199473294 3:38592825-38592825 3:38551334-38551334
18 GPD1L NM_015141.3(GPD1L):c.520G>A (p.Glu174Lys)SNV Conflicting interpretations of pathogenicity 180369 rs112122950 3:32188128-32188128 3:32146636-32146636
19 HCN4 NM_005477.3(HCN4):c.2275G>A (p.Val759Ile)SNV Conflicting interpretations of pathogenicity 190772 rs62641689 15:73616159-73616159 15:73323818-73323818
20 AKAP9 NM_005751.4(AKAP9):c.5369T>G (p.Val1790Gly)SNV Conflicting interpretations of pathogenicity 180263 rs151021935 7:91682040-91682040 7:92052726-92052726
21 MYOM1 NM_003803.4(MYOM1):c.3190C>T (p.His1064Tyr)SNV Conflicting interpretations of pathogenicity 222744 rs755409090 18:3116442-3116442 18:3116444-3116444
22 MYH6 NM_002471.3(MYH6):c.5476_5477delinsAA (p.Gly1826Asn)indel Conflicting interpretations of pathogenicity 239179 rs878854502 14:23853739-23853740 14:23384530-23384531
23 TRPM4 NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter)SNV Conflicting interpretations of pathogenicity 241176 rs71352737 19:49686146-49686146 19:49182889-49182889
24 TRPM4 NM_017636.4(TRPM4):c.1826C>G (p.Ala609Gly)SNV Uncertain significance 222853 rs547541099 19:49691980-49691980 19:49188723-49188723
25 RYR2 NM_001035.3(RYR2):c.5416G>A (p.Ala1806Thr)SNV Uncertain significance 229220 rs767728159 1:237777844-237777844 1:237614544-237614544
26 CACNA1C NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser)SNV Uncertain significance 190632 rs786205744 12:2602424-2602424 12:2493258-2493258
27 DPP6 NM_130797.4(DPP6):c.674C>T (p.Pro225Leu)SNV Uncertain significance 222553 rs869025384 7:154429577-154429577 7:154637867-154637867
28 NEBL NM_213569.2(NEBL):c.529+4114G>TSNV Uncertain significance 222752 rs869025491 10:21097584-21097584 10:20808655-20808655
29 SCN3B NM_018400.3(SCN3B):c.587C>G (p.Ser196Cys)SNV Uncertain significance 222800 rs777776827 11:123504912-123504912 11:123634204-123634204
30 CACNA1C NM_000719.7(CACNA1C):c.5626A>G (p.Lys1876Glu)SNV Uncertain significance 222517 rs869025368 12:2794954-2794954 12:2685788-2685788
31 MYH7 NM_000257.4(MYH7):c.3853+1G>ASNV Uncertain significance 222733 rs202031879 14:23888691-23888691 14:23419482-23419482
32 ANK2 NM_001148.6(ANK2):c.9173G>A (p.Arg3058His)SNV Uncertain significance 180273 rs730880048 4:114278947-114278947 4:113357791-113357791
33 KCNH2 NM_172056.2(KCNH2):c.160T>C (p.Tyr54His)SNV Uncertain significance 67223 rs199472843 7:150671946-150671946 7:150974858-150974858
34 RYR2 NM_001035.3(RYR2):c.14650A>G (p.Met4884Val)SNV Uncertain significance 427951 rs1553341966 1:237991740-237991740 1:237828440-237828440
35 HCN4 NM_005477.3(HCN4):c.1928T>G (p.Leu643Arg)SNV Uncertain significance 427950 rs1555475541 15:73617346-73617346 15:73325005-73325005
36 CACNA1C NM_000719.7(CACNA1C):c.1582T>G (p.Trp528Gly)SNV Uncertain significance 492985 rs755846732 12:2675661-2675661 12:2566495-2566495
37 MYH7 NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr)SNV Uncertain significance 660218 14:23885410-23885410 14:23416201-23416201
38 ANK2 NM_001148.6(ANK2):c.9245C>T (p.Thr3082Ile)SNV Uncertain significance 684796 rs770289485 4:114279019-114279019 4:113357863-113357863
39 KCNQ1 NM_000218.3(KCNQ1):c.74G>C (p.Arg25Pro)SNV Uncertain significance 684795 11:2466402-2466402 11:2445172-2445172
40 MYBPC3 NM_000256.3(MYBPC3):c.20A>C (p.Lys7Thr)SNV Uncertain significance 684792 11:47374179-47374179 11:47352628-47352628
41 MYH6 NM_002471.3(MYH6):c.4060G>A (p.Glu1354Lys)SNV Uncertain significance 684804 14:23858183-23858183 14:23388974-23388974
42 SCN5A NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val)SNV Benign 67659 rs41313697 3:38646357-38646357 3:38604866-38604866
43 KCNH2 NM_172056.2(KCNH2):c.239C>T (p.Ala80Val)SNV not provided 67395 rs199473493 7:150671867-150671867 7:150974779-150974779

Copy number variations for Cardiac Conduction Defect from CNVD:

7 (show all 32)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 16658 1 128900000 142600000 Deletion Sudden cardiac death
2 17395 1 142600000 155000000 Deletion S100A1 Sudden cardiac death
3 29860 1 237205701 237997288 Gain RYR2 Sudden cardiac death
4 38181 10 1 6600000 Gain Sudden cardiac death
5 59687 11 77100000 92800000 Deletion KCNA4 Sudden cardiac death
6 73255 12 92600000 120700000 Deletion ATP2A2 Sudden cardiac death
7 74068 13 10000000 16300000 Deletion Sudden cardiac death
8 74687 13 110300000 115169878 Gain Sudden cardiac death
9 77098 13 40100000 45200000 Gain Sudden cardiac death
10 84232 14 24600000 33300000 Deletion TINF2 Sudden cardiac death
11 95625 15 78300000 102531392 Gain Sudden cardiac death
12 101480 16 38600000 52600000 Deletion Sudden cardiac death
13 119791 18 17200000 19000000 Deletion Sudden cardiac death
14 119992 18 19000000 25000000 Deletion Sudden cardiac death
15 124165 19 1 6900000 Gain Sudden cardiac death
16 134550 2 102700000 110200000 Gain Sudden cardiac death
17 138742 2 169700000 183000000 Gain Sudden cardiac death
18 139544 2 183000000 189400000 Gain Sudden cardiac death
19 160068 21 6800000 16400000 Gain Sudden cardiac death
20 166127 3 1 8700000 Deletion ITPR1 Sudden cardiac death
21 166128 3 1 8700000 Gain Sudden cardiac death
22 170551 3 155838336 156256927 Deletion KCNAB1 Sudden cardiac death
23 170851 3 160700000 167600000 Gain TERC Sudden cardiac death
24 191731 5 1 9800000 Gain TERT Sudden cardiac death
25 196534 5 168500000 180915260 Gain Sudden cardiac death
26 208074 6 164500000 171115067 Gain Sudden cardiac death
27 217131 7 1 7300000 Gain Sudden cardiac death
28 218560 7 114600000 117400000 Gain Sudden cardiac death
29 221932 7 147900000 159138663 Gain KCNH2 Sudden cardiac death
30 244984 9 1 9000000 Gain Sudden cardiac death
31 247561 9 130300000 141213431 Gain Sudden cardiac death
32 254437 9 65900000 68700000 Deletion gain CMD1B Sudden cardiac death

Expression for Cardiac Conduction Defect

Search GEO for disease gene expression data for Cardiac Conduction Defect.

Pathways for Cardiac Conduction Defect

GO Terms for Cardiac Conduction Defect

Cellular components related to Cardiac Conduction Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 9.65 KCNQ1 DSP ANK2
2 sarcolemma GO:0042383 9.54 SCN5A RYR2 ANK2
3 sarcomere GO:0030017 9.5 RYR2 MYH7 MYBPC3
4 calcium channel complex GO:0034704 9.46 RYR2 FKBP1B
5 myosin filament GO:0032982 9.43 MYH7 MYBPC3
6 sarcoplasmic reticulum GO:0016529 9.43 RYR2 PLN FKBP1B
7 A band GO:0031672 9.4 MYBPC3 ANK2
8 intercalated disc GO:0014704 9.33 SCN5A DSP ANK2
9 sarcoplasmic reticulum membrane GO:0033017 9.13 RYR2 PLN FKBP1B
10 Z disc GO:0030018 9.02 SCN5A RYR2 MYH7 FKBP1B ANK2

Biological processes related to Cardiac Conduction Defect according to GeneCards Suite gene sharing:

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.99 SCN5A RYR2 KCNQ1 KCNH2
2 regulation of ion transmembrane transport GO:0034765 9.84 SCN5A KCNQ1 KCNH2
3 cellular calcium ion homeostasis GO:0006874 9.81 RYR2 PLN ANK2
4 cardiac conduction GO:0061337 9.7 SCN5A KCNQ1 KCNH2
5 muscle filament sliding GO:0030049 9.69 MYH7 MYBPC3
6 regulation of heart contraction GO:0008016 9.69 PLN KCNQ1
7 regulation of cytosolic calcium ion concentration GO:0051480 9.69 RYR2 PLN FKBP1B
8 regulation of calcium ion transport GO:0051924 9.68 PLN ANK2
9 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.68 MYH7 MYBPC3
10 calcium-mediated signaling using intracellular calcium source GO:0035584 9.68 RYR2 FKBP1B
11 positive regulation of heart rate GO:0010460 9.68 RYR2 KCNQ1
12 regulation of cardiac muscle contraction GO:0055117 9.67 RYR2 ANK2
13 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.67 PLN FKBP1B
14 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.67 RYR2 PLN FKBP1B ANK2
15 regulation of the force of heart contraction GO:0002026 9.66 PLN MYH7
16 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.66 PLN FKBP1B
17 membrane depolarization during action potential GO:0086010 9.65 SCN5A KCNH2
18 positive regulation of potassium ion transmembrane transport GO:1901381 9.65 KCNQ1 KCNH2
19 potassium ion export across plasma membrane GO:0097623 9.65 KCNQ1 KCNH2
20 regulation of heart rate by cardiac conduction GO:0086091 9.65 SCN5A KCNQ1 KCNH2 DSP ANK2
21 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.64 RYR2 FKBP1B
22 cellular response to epinephrine stimulus GO:0071872 9.64 RYR2 KCNQ1
23 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.63 KCNQ1 KCNH2
24 negative regulation of heart rate GO:0010459 9.62 PLN FKBP1B
25 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.62 RYR2 DSP
26 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.62 SCN5A KCNQ1 KCNH2 ANK2
27 membrane repolarization GO:0086009 9.61 KCNQ1 KCNH2
28 regulation of membrane repolarization GO:0060306 9.61 KCNQ1 KCNH2
29 regulation of cardiac muscle cell contraction GO:0086004 9.61 SCN5A PLN ANK2
30 response to redox state GO:0051775 9.6 RYR2 FKBP1B
31 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.59 KCNQ1 KCNH2
32 membrane repolarization during action potential GO:0086011 9.58 KCNQ1 KCNH2
33 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.58 RYR2 ANK2
34 atrial cardiac muscle cell action potential GO:0086014 9.58 SCN5A KCNQ1 ANK2
35 SA node cell action potential GO:0086015 9.57 SCN5A ANK2
36 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.56 SCN5A KCNQ1
37 membrane depolarization during SA node cell action potential GO:0086046 9.55 SCN5A ANK2
38 regulation of heart rate GO:0002027 9.55 SCN5A RYR2 MYH7 FKBP1B ANK2
39 sarcoplasmic reticulum calcium ion transport GO:0070296 9.54 RYR2 ANK2
40 regulation of atrial cardiac muscle cell action potential GO:0098910 9.49 RYR2 ANK2
41 positive regulation of sequestering of calcium ion GO:0051284 9.48 RYR2 FKBP1B
42 regulation of SA node cell action potential GO:0098907 9.46 RYR2 ANK2
43 ventricular cardiac muscle cell action potential GO:0086005 9.35 SCN5A RYR2 KCNQ1 KCNH2 ANK2
44 cardiac muscle contraction GO:0060048 9.1 SCN5A RYR2 MYH7 MYBPC3 KCNQ1 KCNH2

Molecular functions related to Cardiac Conduction Defect according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.23 SCN5A RYR2 PLN MYH7 MYBPC3 LMNA
2 voltage-gated ion channel activity GO:0005244 9.65 SCN5A KCNQ1 KCNH2
3 calmodulin binding GO:0005516 9.62 SCN5A RYR2 MYH7 KCNQ1
4 delayed rectifier potassium channel activity GO:0005251 9.51 KCNQ1 KCNH2
5 protein kinase A regulatory subunit binding GO:0034237 9.49 RYR2 KCNQ1
6 ion channel activity GO:0005216 9.46 SCN5A RYR2 KCNQ1 KCNH2
7 protein kinase A catalytic subunit binding GO:0034236 9.43 RYR2 KCNQ1
8 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.4 KCNQ1 KCNH2
9 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.37 KCNQ1 KCNH2
10 ryanodine-sensitive calcium-release channel activity GO:0005219 9.26 RYR2 FKBP1B
11 scaffold protein binding GO:0097110 9.26 SCN5A KCNQ1 KCNH2 DSP
12 ion channel binding GO:0044325 9.02 SCN5A RYR2 KCNQ1 FKBP1B ANK2

Sources for Cardiac Conduction Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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