SCD
MCID: CRD132
MIFTS: 62

Cardiac Conduction Defect (SCD)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Cardiac Conduction Defect

MalaCards integrated aliases for Cardiac Conduction Defect:

Name: Cardiac Conduction Defect 57
Sudden Cardiac Death 75 29 6 73
Cardiac Conduction Defect, Susceptibility to 57 13 6
Conduction Disorder of the Heart 73
Death, Sudden, Cardiac 44
Death Sudden Cardiac 55
Scd 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cardiac conduction defect:
Mortality/Aging sudden death
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiac Conduction Defect

UniProtKB/Swiss-Prot : 75 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 and short qt syndrome, 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 Aldosterone synthesis and secretion and Vascular smooth muscle contraction. The drugs Nivolumab and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and kidney, and related phenotypes are arrhythmia and syncope

Description from OMIM: 115080

Related Diseases for Cardiac Conduction Defect

Diseases in the Cardiac Conduction Defect family:

Familial Progressive Cardiac Conduction Defect

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

(show top 50) (show all 284)
# Related Disease Score Top Affiliating Genes
1 progressive familial heart block 32.9 DSP SCN5A
2 short qt syndrome 32.1 KCNH2 KCNQ1
3 long qt syndrome 3 31.9 KCNH2 KCNQ1 SCN5A
4 andersen cardiodysrhythmic periodic paralysis 31.8 KCNQ1 KCNH2 RYR2 SCN5A
5 long qt syndrome 13 31.5 KCNH2 KCNQ1 SCN5A
6 long qt syndrome 12 31.5 KCNH2 KCNQ1 SCN5A
7 catecholaminergic polymorphic ventricular tachycardia 31.3 SCN5A RYR2 RYR1 MYBPC3 KCNH2
8 long qt syndrome 5 31.2 SCN5A RYR2 KCNQ1 KCNH2
9 long qt syndrome 6 31.2 SCN5A RYR2 KCNQ1 KCNH2
10 long qt syndrome 2 31.2 KCNH2 KCNQ1 RYR2 SCN5A
11 long qt syndrome 1 31.0 SCN5A RYR2 KCNQ1 KCNH2 DSP
12 arrhythmogenic right ventricular cardiomyopathy 31.0 SCN5A RYR2 RYR1 PLN MYH7 LMNA
13 ventricular fibrillation, paroxysmal familial, 1 29.9 SCN5A RYR2 KCNQ1 KCNH2 DSP
14 sick sinus syndrome 29.8 LMNA SCN5A
15 atrial fibrillation 29.8 KCNH2 KCNQ1 MYBPC3 RYR2 SCN5A
16 cardiac arrhythmia 29.7 SCN5A RYR2 KCNQ1 KCNH2
17 atrioventricular block 29.6 KCNH2 KCNQ1 LMNA SCN5A
18 syncope 29.6 KCNH2 KCNQ1 SCN5A
19 brugada syndrome 29.6 KCNH2 KCNQ1 MYBPC3 SCN5A
20 hypertrophic cardiomyopathy 29.3 SCN5A RYR2 PLN MYH7 MYBPC3 LMNA
21 sudden infant death syndrome 29.3 KCNH2 KCNQ1 RYR2 SCN5A
22 heart disease 29.3 SCN5A RYR2 MYH7 MYBPC3 LMNA KCNQ1
23 long qt syndrome 28.9 KCNH2 KCNQ1 MYBPC3 RYR2 SCN5A
24 atrial standstill 1 28.8 SCN5A PLN MYH7 MYBPC3 LMNA DSP
25 cardiac arrest 28.7 SCN5A RYR2 PLN MYH7 MYBPC3 KCNQ1
26 left ventricular noncompaction 28.5 SCN5A RYR2 MYH7 MYBPC3 LMNA KCNQ1
27 dilated cardiomyopathy 28.2 SCN5A RYR2 PLN MYH7 MYBPC3 LMNA
28 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 12.6
29 familial progressive cardiac conduction defect 12.5
30 sickle cell disease 12.2
31 carnitine deficiency, systemic primary 11.7
32 schnyder corneal dystrophy 11.6
33 superior semicircular canal dehiscence 11.6
34 progressive familial heart block, type ia 11.6
35 kearns-sayre syndrome 11.5
36 brugada syndrome 5 11.5
37 coronary heart disease 1 11.4
38 peripartum cardiomyopathy 11.4
39 sickle cell anemia 11.3
40 qt interval, variation in 11.3
41 ehlers-danlos syndrome, spondylodysplastic type, 3 11.3
42 diabetes mellitus, noninsulin-dependent 11.2
43 fanconi anemia, complementation group d2 11.2
44 body mass index quantitative trait locus 11 11.2
45 lipodystrophy, congenital generalized, type 3 11.2
46 lipodystrophy, congenital generalized, type 4 11.2
47 reye syndrome 11.2
48 cardiomyopathy, familial hypertrophic, 1 11.2
49 cardiomyopathy, familial hypertrophic, 6 11.2
50 cardiac arrhythmia, ankyrin-b-related 11.2

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



Diseases related to Cardiac Conduction Defect

Symptoms & Phenotypes for Cardiac Conduction Defect

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
arrhythmia
progressive atrial conduction defect

Neuro:
syncope

Misc:
sudden death

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


Clinical features from OMIM:

115080

Human phenotypes related to Cardiac Conduction Defect:

32
# Description HPO Frequency HPO Source Accession
1 arrhythmia 32 HP:0011675
2 syncope 32 HP:0001279

UMLS symptoms related to Cardiac Conduction Defect:


chest pain

MGI Mouse Phenotypes related to Cardiac Conduction Defect:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.96 AKAP10 DSP KCNH2 KCNQ1 LMNA MYBPC3
2 growth/size/body region MP:0005378 9.56 AKAP10 DSP KCNH2 KCNQ1 LMNA RYR1
3 craniofacial MP:0005382 9.55 AKAP10 DSP KCNH2 LMNA RYR1
4 muscle MP:0005369 9.28 DSP KCNH2 KCNQ1 LMNA MYBPC3 MYH7

Drugs & Therapeutics for Cardiac Conduction Defect

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

(show top 50) (show all 106)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nivolumab Approved Phase 4 946414-94-4
2
Lidocaine Approved, Vet_approved Phase 4,Phase 2 137-58-6 3676
3
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
4
Canrenone Investigational Phase 4 976-71-6 13789
5 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
6 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
7 Autonomic Agents Phase 4,Phase 2,Phase 3
8 Anesthetics, Local Phase 4,Phase 2
9 Pharmaceutical Solutions Phase 4,Phase 1,Phase 2
10 Diuretics, Potassium Sparing Phase 4
11 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1
12 Sodium Channel Blockers Phase 4
13 Analgesics Phase 4,Phase 2,Phase 3,Phase 1
14 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
15 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 3
16 Cholinergic Antagonists Phase 4
17 Cholinergic Agents Phase 4
18 Anticonvulsants Phase 4,Phase 2,Phase 3
19 Muscarinic Antagonists Phase 4
20 Bromides Phase 4
21 Adrenergic Antagonists Phase 4,Phase 2,Phase 3
22 Adrenergic beta-Antagonists Phase 4,Phase 2,Phase 3
23 Adrenergic Agents Phase 4,Phase 2,Phase 3
24 Hormone Antagonists Phase 4,Phase 3
25 Mineralocorticoids Phase 4
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
27 diuretics Phase 4,Phase 1,Phase 2
28 Natriuretic Agents Phase 4,Phase 1,Phase 2
29 Mineralocorticoid Receptor Antagonists Phase 4
30 Hormones Phase 4,Phase 3,Phase 2
31
Glycopyrrolate Phase 4 596-51-0 3494
32 Cholinesterase Inhibitors Phase 4
33
Ramipril Approved Phase 3 87333-19-5 5362129
34
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 2, Phase 3 7487-88-9 24083
35
Labetalol Approved Phase 2, Phase 3 36894-69-6 3869
36
Empagliflozin Approved Phase 3 864070-44-0
37
Metformin Approved Phase 3 657-24-9 14219 4091
38
Zinc Approved, Investigational Phase 3 7440-66-6
39
Saxagliptin Approved Phase 3 361442-04-8 11243969
40 Angiotensin-Converting Enzyme Inhibitors Phase 3
41 Antihypertensive Agents Phase 3,Phase 2
42 HIV Protease Inhibitors Phase 3
43
protease inhibitors Phase 3
44 Sympathomimetics Phase 2, Phase 3
45 Adrenergic alpha-Antagonists Phase 2, Phase 3
46 Tocolytic Agents Phase 2, Phase 3
47 Adrenergic alpha-1 Receptor Antagonists Phase 2, Phase 3
48 Calcium, Dietary Phase 2, Phase 3
49 calcium channel blockers Phase 2, Phase 3
50 Hypoglycemic Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 70)
# Name Status NCT ID Phase Drugs
1 Syncope: Pacing or Recording in the Later Years Unknown status NCT01423994 Phase 4
2 Assessment of the Prognosis of Persistent Left Bundle Branch Block (LBBB)After Transcatheter Aortic Valve Implantation (TAVI ) by an Electrophysiological and Remote Monitoring Risk-adapted Algorithm Unknown status NCT02482844 Phase 4
3 Assessment of Cardiac Resynchronization Therapy in Patients With Wide QRS and Non-specific Intraventricular Conduction Delay: a Randomized Trial Unknown status NCT02454439 Phase 4
4 Spontaneous Atrio Ventricular Conduction Preservation Completed NCT00655213 Phase 4
5 (SGB) in Men Treated for Prostate Cancer Improve Hot Flashes Not yet recruiting NCT03796195 Phase 4 .5% Bupivacaine
6 Evolution of the Heart Function When Monitoring Immunotherapies Anti-cancerous Inhibiting PD-1 Not yet recruiting NCT03313544 Phase 4 Nivolumab
7 Multimodal Analgesic Technique for Control of Post-laproscopy Abdominal Pain Completed NCT03241602 Phase 4 Intraperitoneal lidocaine
8 A Study of Ivabradine in African-American/ Black Subjects With Heart Failure and Left Ventricular Systolic Dysfunction. Recruiting NCT03456856 Phase 4 5mg Ivabradine
9 Evaluate the Effect of Aclidinium Bromide on Long-term Cardiovascular Safety and Exacerbations in Moderate to Very Severe COPD Patients. Completed NCT01966107 Phase 4 Aclidinium Bromide;Placebo
10 Beta Blocker Interruption After Uncomplicated Myocardial Infarction Recruiting NCT03498066 Phase 4 Beta-blockers withdrawal;Continuation of the Betablockers (βB) treatment
11 Clinical Efficacy of Potassium Canrenoate in Sinus Rhythm Restoration Among Patients With Atrial Fibrillation. Not yet recruiting NCT03536806 Phase 4 Saline 0.9%;Canrenone
12 Speed of Recovery of Reversal of Neuromuscular Blockade in Geriatric Patients Undergoing Spine Surgery Completed NCT03112993 Phase 4 sugammadex;Neostigmine
13 Comparison of AAIsafeR and DDD Modes in Non-selected Patients Completed NCT01219621 Phase 3
14 Prevention of Atrial Fibrillation by Inhibition Conversion Enzyme (ICE) After Radiofrequency Ablation of Atrial Flutter Terminated NCT00736294 Phase 3 Ramipril;Placebo
15 Labetalol Versus Magnesium Sulfate (MgSO4) for the Prevention of Eclampsia Trial Withdrawn NCT00293735 Phase 2, Phase 3 labetalol (seizure prevention);MgSO4 (seizure prevention)
16 BI 10773 (Empagliflozin) Cardiovascular Outcome Event Trial in Type 2 Diabetes Mellitus Patients (EMPA-REG OUTCOME). Completed NCT01131676 Phase 3 BI 10773 low dose;Placebo BI 10773 high dose;BI 10773 high dose;Placebo BI 10773 low dose;Placebo BI 10773 low dose;Placebo BI 10773 high dose
17 Safety and Efficacy of Saxagliptin Plus Insulin With or Without Metformin Completed NCT00757588 Phase 3 Saxagliptin, 5 mg + insulin;Placebo + insulin
18 A Study to Investigate the Safety and Efficacy of a Novel Furosemide Regimen Withdrawn NCT02721511 Phase 1, Phase 2 Furosemide Injection Solution 8mg/mL
19 Can Oral T3 Normalize Thyroid Hormone Levels Following Cardiopulmonary Bypass in Children? Completed NCT01780584 Phase 2 Oral T3 Low dose;Placebo;Oral T3 high dose
20 Pediatric Myocardial Protection With Potassium Cardioplegia Completed NCT03229980 Phase 2 Cold blood cardioplegia (large volume);Cold blood cardioplegia (small volume)
21 Long-term Safety, Tolerability and Efficacy of BAF312 Given Orally in Patients With Relapsing-remitting Multiple Sclerosis Completed NCT01185821 Phase 2 BAF312
22 Custodiol-HTK (Histidine-tryptophan-ketoglutarate) Solution as a Cardioplegic Agent Completed NCT01681095 Phase 2 Custodiol HTK;Cold Blood Cardioplegia
23 Multi-Drug Desensitization Protocol for Heart Transplant Candidates Terminated NCT01556347 Phase 2 Bortezomib, Thymoglobulin, Rituximab, Gamimune N, (IVIG), Plasmapheresis
24 Study to Test the Safety and Efficacy of Cannabidiol as a Treatment Intervention for Opioid Relapse Completed NCT01311778 Phase 1 Cannabidiol;Fentanyl
25 Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms Unknown status NCT02881671
26 Systemic Lupus Erythematous and Heart Conduction Disorders Unknown status NCT02162992
27 Cohort Description of Younger With AV-block Unknown status NCT03024047
28 The Safety of Flexible Bronchoscopy in Patients With Pulmonary Hypertension Unknown status NCT00986869
29 Cardiovascular Consequences of NIV Withdrawal in Patients With Myotonic Dystrophy Unknown status NCT00745238 Not Applicable
30 Effect of Bi-ventricular Pacing on Autonomous Nervous System Unknown status NCT00190138 Not Applicable
31 Left Ventricular Function and Remodelling During Permanent Pacing Unknown status NCT00228241 Not Applicable
32 Red Blood Cells as a Reflection of Endothelial Function in Old Age Unknown status NCT02265003
33 Natural Evolution of AV Conduction Disorders in Patients Implanted With Cardiac Pacemakers Completed NCT00531037
34 Retrospective Observational Study of Patients With a Sutureless Aortic Valve Implanted in the Cardiovascular and Thoracic Surgery Department of Dijon CHU Recruiting NCT03259945
35 Indication of Permanent Cardiac Parcing After Tanscatheter Aortic Valve Implantation Completed NCT02337140 Not Applicable
36 Antiarrythmic Drugs - Long-term Follow-up in the Modern Era Completed NCT01082055
37 A Study to Determine the Feasibility of Wireless Electrocardiography Completed NCT02162394
38 Implantable Loop Recorder in Hemodialysis Patients Completed NCT01252823 Not Applicable
39 STIMTAVI : Evolution of Atrioventricular Conduction Disorders After TAVI Active, not recruiting NCT03338582
40 A Psychoeducational Intervention Supporting Patients With an Inherited Cardiac Condition Not yet recruiting NCT03602040 Not Applicable
41 Correlation Between the 'Nine Holes Peg Test' Performance and the Triple Stimulation Technique Within a Group a Patients With Multiple Sclerosis Recruiting NCT02805634 Not Applicable
42 Dysrhythmias During General Anesthesia in Children Completed NCT00715390
43 Sudden Cardiac Death Stratification in Myotonic Dystrophy Type 1 Patients Active, not recruiting NCT03784586
44 Bridge Occlusion Balloon in Lead Extraction Procedure Completed NCT02714153 Not Applicable
45 Left Ventricular Septum Pacing in Patients by Transvenous Approach Through the Inter-ventricular Septum Completed NCT01609738
46 Revisit the Value of Imaging in Best Using CArdiac Resynchronization Therapy Completed NCT02528032 Not Applicable
47 ARrhythmias in MYocarditis Recruiting NCT03801681
48 Application of the Triple Stimulation Technique to Patients With CNS Disorders Including Stroke Completed NCT02354248 Not Applicable
49 Fabry's Disease and Pregnancy (PREFAB) Recruiting NCT02582294
50 The Prevalence of Sleep Disordered Breathing in Hospitalized Patients With Acutely Decompensated Heart Failure Syndrome Completed NCT00701519

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:

41
Heart, Testes, Kidney, Spinal Cord, Whole Blood, Thyroid, Bone

Publications for Cardiac Conduction Defect

Articles related to Cardiac Conduction Defect:

(show top 50) (show all 1324)
# Title Authors Year
1
Sudden Cardiac Death and Ventricular Arrhythmias in Hypertrophic Cardiomyopathy. ( 30392982 )
2019
2
Exercise hemodynamics in hypertrophic cardiomyopathy identify risk of incident heart failure but not ventricular arrhythmias or sudden cardiac death. ( 30075967 )
2019
3
Channelopathies That Lead to Sudden Cardiac Death: Clinical and Genetic Aspects. ( 30389366 )
2019
4
Current Device Therapies for Sudden Cardiac Death Prevention - the ICD, Subcutaneous ICD and Wearable ICD. ( 30389367 )
2019
5
Sudden Cardiac Death Risk Stratification and the Role of the Implantable Cardiac Defibrillator. ( 30447717 )
2019
6
Epidemiology of Sudden Cardiac Death: Global and Regional Perspectives. ( 30482683 )
2019
7
The Contemporary Era of Sudden Cardiac Death and Ventricular Arrhythmias: Basic Concepts, Recent Developments and Future Directions. ( 30545580 )
2019
8
Incidence and risk factors of post-operative arrhythmias and sudden cardiac death after atrioventricular septal defect (AVSD) correction: Up to 47years of follow-up. ( 29249442 )
2018
9
Management of sudden cardiac death in cardiac sarcoidosis using the wearable cardioverter defibrillator. ( 29566033 )
2018
10
Regarding the Case of Postpartum Sudden Cardiac Death After Spontaneous Coronary Artery Dissection in a Patient With Fibromuscular Dysplasia. ( 29904460 )
2018
11
Optimal Medications and Appropriate Implantable Cardioverter-defibrillator Shocks in Aborted Sudden Cardiac Death Due to Coronary Spasm. ( 29321418 )
2018
12
Status of cardiac arrhythmia services in Africa in 2018: a PASCAR Sudden Cardiac Death Task Force report. ( 29745966 )
2018
13
Chronic intermittent hypoxia promotes myocardial ischemia-related ventricular arrhythmias and sudden cardiac death. ( 29445096 )
2018
14
Identification of Pulmonary Edema in Forensic Autopsy Cases of Sudden Cardiac Death Using Fourier Transform Infrared Microspectroscopy: A Pilot Study. ( 29364657 )
2018
15
Obesity and sudden cardiac death in the young: Clinical and pathological insights from a large national registry. ( 29319343 )
2018
16
Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene. ( 29717556 )
2018
17
Prevention of sudden cardiac death in patients with Tetralogy of Fallot: Risk assessment and long term outcome. ( 29980366 )
2018
18
Sudden cardiac death in young athletes with long QT syndrome: the role of genetic testing and cardiovascular screening. ( 29931253 )
2018
19
The use of cardiac troponin T (cTnT) in the postmortem diagnosis of acute myocardial infarction and sudden cardiac death: A systematic review. ( 30269044 )
2018
20
Body Mass Index and Sudden Cardiac Death in Japanese Patients After Acute Myocardial Infarction: Data From the JCAD Study and HIJAMI-II Registry. ( 29982233 )
2018
21
Cardiac amyloidosis: myocardial biopsy as a tool in chemotherapy implementation and sudden cardiac death prevention. ( 29657310 )
2018
22
A large familial pathogenic Plakophilin-2 gene (PKP2) deletion manifesting with sudden cardiac death and lone atrial fibrillation: Evidence for alternating atrial and ventricular phenotypes. ( 30364518 )
2018
23
Usefulness of the CHA2DS2-VASc Score to Predict the Risk of Sudden Cardiac Death and Ventricular Arrhythmias in Patients With Atrial Fibrillation. ( 30342698 )
2018
24
A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death. ( 30170230 )
2018
25
Spontaneously aborted sudden cardiac death in Brugada syndrome. ( 29784545 )
2018
26
A Novel Calsequestrin 2 Deletion Causing Catecholaminergic Polymorphic Ventricular Tachycardia and Sudden Cardiac Death. ( 30139651 )
2018
27
Coronary stenosis as a modifier of the effect of cold spells on the risk of sudden cardiac death: a case-crossover study in Finland. ( 30082348 )
2018
28
Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death. ( 30354339 )
2018
29
Mortality and Sudden Cardiac Death Risk Stratification Using the Noninvasive Combination of Wide QRS Duration and Late Gadolinium Enhancement in Idiopathic Dilated Cardiomyopathy. ( 29654132 )
2018
30
Letter by Locorotondo et al Regarding Article, "Association Between Midwall Late Gadolinium Enhancement and Sudden Cardiac Death in Patients with Dilated Cardiomyopathy and Mild and Moderate Left Ventricular Systolic Dysfunction". ( 29279344 )
2018
31
Response by Halliday et al to Letter Regarding Article, "Association Between Midwall Late Gadolinium Enhancement and Sudden Cardiac Death in Patients with Dilated Cardiomyopathy and Mild and Moderate Left Ventricular Systolic Dysfunction". ( 29279345 )
2018
32
Ventricular arrhythmia and sudden cardiac death in Fabry disease: a systematic review of risk factors in clinical practice. ( 29045633 )
2018
33
Calculated Risk for Sudden Cardiac Death in Patients with Apical Versus Nonobstructive Nonapical Hypertrophic Cardiomyopathy. ( 30197054 )
2018
34
Prevention of Sudden Cardiac Death in Hypertrophic Cardiomyopathy: What has Changed in The Guidelines? ( 30226910 )
2018
35
Validation of the 2014 European Society of Cardiology Sudden Cardiac Death Risk Prediction Model Among Various Phenotypes in Japanese Patients With Hypertrophic Cardiomyopathy. ( 30293654 )
2018
36
Galectin-3: A Novel Biomarker Predicts Sudden Cardiac Death in Hypertrophic Cardiomyopathy. ( 30342718 )
2018
37
Effectiveness of the 2014 European Society of Cardiology guideline on sudden cardiac death in hypertrophic cardiomyopathy: a systematic review and meta-analysis. ( 30366935 )
2018
38
Hypertrophic cardiomyopathy: Sudden cardiac death risk stratification in adults. ( 30393637 )
2018
39
Sudden Cardiac Death in Hypertrophic Cardiomyopathy. ( 29621050 )
2018
40
High T2-weighted signal intensity for risk prediction of sudden cardiac death in hypertrophic cardiomyopathy. ( 29063221 )
2018
41
International External Validation Study of the 2014 European Society of Cardiology Guidelines on Sudden Cardiac Death Prevention in Hypertrophic Cardiomyopathy (EVIDENCE-HCM). ( 29191938 )
2018
42
Myocardial Scar But Not Ischemia Is Associated With Defibrillator Shocks and Sudden Cardiac Death in Stable Patients With Reduced Left Ventricular Ejection Fraction. ( 30236394 )
2018
43
Mapping Progress in Reducing Cardiovascular Risk with Kidney Disease: Sudden Cardiac Death. ( 30111586 )
2018
44
Obstructive Sleep Apnea Increases Sudden Cardiac Death in Incident Hemodialysis Patients. ( 30110675 )
2018
45
Clues to the Pathophysiology of Sudden Cardiac Death in Obstructive Sleep Apnea. ( 30205374 )
2018
46
Obstructive Sleep Apnea and Sudden Cardiac Death: Is the Landscape Clear? ( 30212826 )
2018
47
Coronary atherosclerosis and sudden cardiac death in the young: another face of the culprit, another way of striking? ( 29776572 )
2018
48
Sudden cardiac death in athletes and the value of cardiovascular magnetic resonance. ( 29782639 )
2018
49
Pericardial Cyst: Cause of Sudden Cardiac Death? ( 29783280 )
2018
50
Correction to: How to manage various arrhythmias and sudden cardiac death in the cardiovascular intensive care. ( 29849434 )
2018

Variations for Cardiac Conduction Defect

ClinVar genetic disease variations for Cardiac Conduction Defect:

6 (show top 50) (show all 57)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH6 NM_002471.3(MYH6): c.3010G> T (p.Ala1004Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143978652 GRCh37 Chromosome 14, 23862646: 23862646
2 MYH6 NM_002471.3(MYH6): c.3010G> T (p.Ala1004Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143978652 GRCh38 Chromosome 14, 23393437: 23393437
3 TNNT2 NM_001001430.2(TNNT2): c.690-4G> T single nucleotide variant Conflicting interpretations of pathogenicity rs201753429 GRCh37 Chromosome 1, 201330501: 201330501
4 TNNT2 NM_001001430.2(TNNT2): c.690-4G> T single nucleotide variant Conflicting interpretations of pathogenicity rs201753429 GRCh38 Chromosome 1, 201361373: 201361373
5 SCN5A NM_198056.2(SCN5A): c.1381T> G (p.Leu461Val) single nucleotide variant Benign rs41313697 GRCh37 Chromosome 3, 38646357: 38646357
6 SCN5A NM_198056.2(SCN5A): c.1381T> G (p.Leu461Val) single nucleotide variant Benign rs41313697 GRCh38 Chromosome 3, 38604866: 38604866
7 GPD1L NM_015141.3(GPD1L): c.520G> A (p.Glu174Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs112122950 GRCh37 Chromosome 3, 32188128: 32188128
8 GPD1L NM_015141.3(GPD1L): c.520G> A (p.Glu174Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs112122950 GRCh38 Chromosome 3, 32146636: 32146636
9 AKAP9 NM_005751.4(AKAP9): c.5369T> G (p.Val1790Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs151021935 GRCh38 Chromosome 7, 92052726: 92052726
10 AKAP9 NM_005751.4(AKAP9): c.5369T> G (p.Val1790Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs151021935 GRCh37 Chromosome 7, 91682040: 91682040
11 DPP6 NM_001039350.2(DPP6): c.482C> T (p.Pro161Leu) single nucleotide variant Uncertain significance rs869025384 GRCh38 Chromosome 7, 154637867: 154637867
12 MYOM1 NM_003803.3(MYOM1): c.3190C> T (p.His1064Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs755409090 GRCh38 Chromosome 18, 3116444: 3116444
13 MYOM1 NM_003803.3(MYOM1): c.3190C> T (p.His1064Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs755409090 GRCh37 Chromosome 18, 3116442: 3116442
14 TRPM4 NM_017636.3(TRPM4): c.1826C> G (p.Ala609Gly) single nucleotide variant Uncertain significance rs547541099 GRCh38 Chromosome 19, 49188723: 49188723
15 TRPM4 NM_017636.3(TRPM4): c.1826C> G (p.Ala609Gly) single nucleotide variant Uncertain significance rs547541099 GRCh37 Chromosome 19, 49691980: 49691980
16 RYR2 NM_001035.2(RYR2): c.5416G> A (p.Ala1806Thr) single nucleotide variant Uncertain significance rs767728159 GRCh38 Chromosome 1, 237614544: 237614544
17 RYR2 NM_001035.2(RYR2): c.5416G> A (p.Ala1806Thr) single nucleotide variant Uncertain significance rs767728159 GRCh37 Chromosome 1, 237777844: 237777844
18 DSP NM_004415.3(DSP): c.2528C> A (p.Ser843Ter) single nucleotide variant Pathogenic rs1057518920 GRCh37 Chromosome 6, 7575619: 7575619
19 DSP NM_004415.3(DSP): c.2528C> A (p.Ser843Ter) single nucleotide variant Pathogenic rs1057518920 GRCh38 Chromosome 6, 7575386: 7575386
20 RYR2 NM_001035.2(RYR2): c.14650A> G (p.Met4884Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 237828440: 237828440
21 RYR2 NM_001035.2(RYR2): c.14650A> G (p.Met4884Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 237991740: 237991740
22 HCN4 NM_005477.2(HCN4): c.1928T> G (p.Leu643Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 73325005: 73325005
23 HCN4 NM_005477.2(HCN4): c.1928T> G (p.Leu643Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 73617346: 73617346
24 CACNA1C NM_000719.6(CACNA1C): c.1582T> G (p.Trp528Gly) single nucleotide variant Uncertain significance rs755846732 GRCh38 Chromosome 12, 2566495: 2566495
25 CACNA1C NM_000719.6(CACNA1C): c.1582T> G (p.Trp528Gly) single nucleotide variant Uncertain significance rs755846732 GRCh37 Chromosome 12, 2675661: 2675661
26 ANK2 NM_001148.4(ANK2): c.9173G> A (p.Arg3058His) single nucleotide variant Uncertain significance rs730880048 GRCh37 Chromosome 4, 114278947: 114278947
27 ANK2 NM_001148.4(ANK2): c.9173G> A (p.Arg3058His) single nucleotide variant Uncertain significance rs730880048 GRCh38 Chromosome 4, 113357791: 113357791
28 SCN5A NM_198056.2(SCN5A): c.5038G> A (p.Ala1680Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199473294 GRCh38 Chromosome 3, 38551334: 38551334
29 SCN5A NM_198056.2(SCN5A): c.5038G> A (p.Ala1680Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199473294 GRCh37 Chromosome 3, 38592825: 38592825
30 SCN5A NM_000335.4(SCN5A): c.2944T> C (p.Cys982Arg) single nucleotide variant Uncertain significance rs199473182 GRCh38 Chromosome 3, 38581215: 38581215
31 SCN5A NM_000335.4(SCN5A): c.2944T> C (p.Cys982Arg) single nucleotide variant Uncertain significance rs199473182 GRCh37 Chromosome 3, 38622706: 38622706
32 KCNH2 NM_000238.3(KCNH2): c.239C> T (p.Ala80Val) single nucleotide variant not provided rs199473493 GRCh38 Chromosome 7, 150974779: 150974779
33 KCNH2 NM_000238.3(KCNH2): c.239C> T (p.Ala80Val) single nucleotide variant not provided rs199473493 GRCh37 Chromosome 7, 150671867: 150671867
34 TTN NM_001267550.2(TTN): c.29230C> T (p.Arg9744Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs375266859 GRCh38 Chromosome 2, 178706644: 178706644
35 TTN NM_001267550.2(TTN): c.29230C> T (p.Arg9744Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs375266859 GRCh37 Chromosome 2, 179571371: 179571371
36 RYR2 NM_001035.2(RYR2): c.3380A> G (p.Glu1127Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200525962 GRCh38 Chromosome 1, 237566732: 237566732
37 RYR2 NM_001035.2(RYR2): c.3380A> G (p.Glu1127Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200525962 GRCh37 Chromosome 1, 237730032: 237730032
38 MT-TP; MT-TT m.15923A> G single nucleotide variant Uncertain significance rs193303001 GRCh37 Chromosome MT, 15923: 15923
39 MT-TP; MT-TT m.15923A> G single nucleotide variant Uncertain significance rs193303001 GRCh38 Chromosome MT, 15923: 15923
40 PLN NM_002667.4(PLN): c.116T> G (p.Leu39Ter) single nucleotide variant Pathogenic rs111033560 GRCh38 Chromosome 6, 118559037: 118559037
41 PLN NM_002667.4(PLN): c.116T> G (p.Leu39Ter) single nucleotide variant Pathogenic rs111033560 GRCh37 Chromosome 6, 118880200: 118880200
42 AKAP10 NM_007202.3(AKAP10): c.1936A> G (p.Ile646Val) single nucleotide variant risk factor rs203462 GRCh38 Chromosome 17, 19909228: 19909228
43 AKAP10 NM_007202.3(AKAP10): c.1936A> G (p.Ile646Val) single nucleotide variant risk factor rs203462 GRCh37 Chromosome 17, 19812541: 19812541
44 MYH7 NM_000257.3(MYH7): c.3853+1G> A single nucleotide variant Uncertain significance rs202031879 GRCh38 Chromosome 14, 23419482: 23419482
45 MYH7 NM_000257.3(MYH7): c.3853+1G> A single nucleotide variant Uncertain significance rs202031879 GRCh37 Chromosome 14, 23888691: 23888691
46 CACNA1C NM_000719.6(CACNA1C): c.5626A> G (p.Lys1876Glu) single nucleotide variant Uncertain significance rs869025368 GRCh38 Chromosome 12, 2685788: 2685788
47 CACNA1C NM_000719.6(CACNA1C): c.5626A> G (p.Lys1876Glu) single nucleotide variant Uncertain significance rs869025368 GRCh37 Chromosome 12, 2794954: 2794954
48 SCN3B NM_018400.3(SCN3B): c.587C> G (p.Ser196Cys) single nucleotide variant Uncertain significance rs777776827 GRCh38 Chromosome 11, 123634204: 123634204
49 SCN3B NM_018400.3(SCN3B): c.587C> G (p.Ser196Cys) single nucleotide variant Uncertain significance rs777776827 GRCh37 Chromosome 11, 123504912: 123504912
50 NEBL NM_006393.2(NEBL): c.2616G> T (p.Lys872Asn) single nucleotide variant Uncertain significance rs869025491 GRCh37 Chromosome 10, 21097584: 21097584

Copy number variations for Cardiac Conduction Defect from CNVD:

7 (show all 32)
# CNVD ID Chromosom 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

Pathways related to Cardiac Conduction Defect according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.39 KCNQ1 MYH7 PLN RYR2 SCN5A
2
Show member pathways
12.34 MYH7 PLN RYR1 RYR2
3
Show member pathways
12.23 KCNH2 KCNQ1 MYBPC3 PLN RYR1 RYR2
4
Show member pathways
12.04 DSP LMNA RYR2
5
Show member pathways
11.88 PLN RYR1 RYR2
6
Show member pathways
11.79 LMNA MYBPC3 MYH7 PLN RYR2
7 11.77 KCNH2 KCNQ1 RYR2 SCN5A
8 11.17 RYR1 RYR2
9 10.92 DSP KCNH2 KCNQ1 LMNA PLN RYR2
10 10.48 RYR1 RYR2

GO Terms for Cardiac Conduction Defect

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.8 AKAP10 PLN RYR1 RYR2
2 cytoplasmic vesicle membrane GO:0030659 9.61 KCNQ1 RYR1 RYR2
3 sarcolemma GO:0042383 9.54 RYR1 RYR2 SCN5A
4 intercalated disc GO:0014704 9.52 DSP SCN5A
5 T-tubule GO:0030315 9.51 RYR1 SCN5A
6 smooth endoplasmic reticulum GO:0005790 9.48 RYR1 RYR2
7 calcium channel complex GO:0034704 9.46 RYR1 RYR2
8 sarcomere GO:0030017 9.43 MYBPC3 MYH7 RYR2
9 myosin filament GO:0032982 9.4 MYBPC3 MYH7
10 sarcoplasmic reticulum GO:0016529 9.33 PLN RYR1 RYR2
11 junctional sarcoplasmic reticulum membrane GO:0014701 9.32 RYR1 RYR2
12 sarcoplasmic reticulum membrane GO:0033017 9.13 PLN RYR1 RYR2
13 Z disc GO:0030018 9.02 MYBPC3 MYH7 RYR1 RYR2 SCN5A

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

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.89 KCNH2 KCNQ1 RYR1 RYR2 SCN5A
2 regulation of ion transmembrane transport GO:0034765 9.83 KCNH2 KCNQ1 SCN5A
3 calcium ion transport GO:0006816 9.82 PLN RYR1 RYR2
4 transmembrane transport GO:0055085 9.8 KCNH2 KCNQ1 RYR1 RYR2 SCN5A
5 muscle contraction GO:0006936 9.79 MYBPC3 MYH7 RYR1
6 ion transmembrane transport GO:0034220 9.78 KCNQ1 RYR1 RYR2 SCN5A
7 cellular calcium ion homeostasis GO:0006874 9.74 PLN RYR1 RYR2
8 skin development GO:0043588 9.68 DSP RYR1
9 release of sequestered calcium ion into cytosol GO:0051209 9.68 RYR1 RYR2
10 regulation of cardiac conduction GO:1903779 9.67 RYR1 RYR2
11 muscle filament sliding GO:0030049 9.67 MYBPC3 MYH7
12 regulation of heart contraction GO:0008016 9.67 KCNQ1 PLN
13 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.66 MYBPC3 MYH7
14 positive regulation of heart rate GO:0010460 9.66 KCNQ1 RYR2
15 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.65 PLN RYR2
16 regulation of the force of heart contraction GO:0002026 9.65 MYH7 PLN
17 membrane depolarization during action potential GO:0086010 9.64 KCNH2 SCN5A
18 positive regulation of potassium ion transmembrane transport GO:1901381 9.63 KCNH2 KCNQ1
19 potassium ion export across plasma membrane GO:0097623 9.63 KCNH2 KCNQ1
20 cellular response to epinephrine stimulus GO:0071872 9.62 KCNQ1 RYR2
21 regulation of cardiac muscle cell contraction GO:0086004 9.62 PLN SCN5A
22 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.61 KCNH2 KCNQ1
23 potassium ion export GO:0071435 9.6 KCNH2 KCNQ1
24 regulation of membrane repolarization GO:0060306 9.59 KCNH2 KCNQ1
25 membrane repolarization GO:0086009 9.58 KCNH2 KCNQ1
26 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.58 DSP RYR2
27 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.56 KCNH2 KCNQ1
28 atrial cardiac muscle cell action potential GO:0086014 9.55 KCNQ1 SCN5A
29 cellular response to caffeine GO:0071313 9.54 RYR1 RYR2
30 regulation of cytosolic calcium ion concentration GO:0051480 9.54 PLN RYR1 RYR2
31 membrane repolarization during action potential GO:0086011 9.52 KCNH2 KCNQ1
32 response to caffeine GO:0031000 9.51 RYR1 RYR2
33 regulation of heart rate GO:0002027 9.5 MYH7 RYR2 SCN5A
34 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.46 RYR1 RYR2
35 regulation of heart rate by cardiac conduction GO:0086091 9.46 DSP KCNH2 KCNQ1 SCN5A
36 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.43 KCNQ1 SCN5A
37 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.43 KCNH2 KCNQ1 SCN5A
38 ventricular cardiac muscle cell action potential GO:0086005 9.26 KCNH2 KCNQ1 RYR2 SCN5A
39 cardiac muscle contraction GO:0060048 9.1 KCNH2 KCNQ1 MYBPC3 MYH7 RYR2 SCN5A

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.69 KCNQ1 RYR2 SCN5A
2 voltage-gated ion channel activity GO:0005244 9.65 KCNH2 KCNQ1 SCN5A
3 delayed rectifier potassium channel activity GO:0005251 9.54 KCNH2 KCNQ1
4 protein kinase A regulatory subunit binding GO:0034237 9.52 KCNQ1 RYR2
5 calcium-release channel activity GO:0015278 9.46 RYR1 RYR2
6 ion channel activity GO:0005216 9.46 KCNH2 RYR1 RYR2 SCN5A
7 protein kinase A catalytic subunit binding GO:0034236 9.43 KCNQ1 RYR2
8 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.4 KCNH2 KCNQ1
9 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.37 KCNH2 KCNQ1
10 calmodulin binding GO:0005516 9.35 KCNQ1 MYH7 RYR1 RYR2 SCN5A
11 calcium-induced calcium release activity GO:0048763 9.32 RYR1 RYR2
12 ryanodine-sensitive calcium-release channel activity GO:0005219 9.26 RYR1 RYR2
13 scaffold protein binding GO:0097110 8.92 DSP KCNH2 KCNQ1 SCN5A
14 protein binding GO:0005515 10.24 AKAP10 DSP KCNH2 KCNQ1 LMNA MYBPC3

Sources for Cardiac Conduction Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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