SCD
MCID: CRD132
MIFTS: 59

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:
Inheritance autosomal dominant inheritance
Mortality/Aging sudden death


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 brugada syndrome and syncope, 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 Acarbose and Spironolactone have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and kidney, and related phenotypes are syncope and arrhythmia

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 116)
# Related Disease Score Top Affiliating Genes
1 brugada syndrome 29.4 KCNH2 KCNQ1 SCN5A
2 syncope 29.2 KCNH2 KCNQ1 SCN5A
3 hypertrophic cardiomyopathy 27.1 DSP LMNA MYBPC3 MYH7 PLN RYR2
4 long qt syndrome 27.0 KCNH2 KCNQ1 MYBPC3 RYR2 SCN5A
5 dilated cardiomyopathy 24.3 DSP KCNH2 KCNQ1 LMNA MYBPC3 MYH7
6 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 12.4
7 familial progressive cardiac conduction defect 12.4
8 sickle cell disease 12.1
9 progressive familial heart block 11.6
10 schnyder corneal dystrophy 11.5
11 superior semicircular canal dehiscence 11.5
12 fatty liver disease 11.5
13 progressive familial heart block, type ia 11.4
14 kearns-sayre syndrome 11.4
15 brugada syndrome 5 11.3
16 sickle cell anemia 11.1
17 qt interval, variation in 11.1
18 ehlers-danlos syndrome, spondylodysplastic type, 3 11.1
19 diabetes mellitus, noninsulin-dependent 11.1
20 body mass index quantitative trait locus 11 11.1
21 reye syndrome 11.1
22 emery-dreifuss muscular dystrophy 2, autosomal dominant 11.0
23 carnitine deficiency, systemic primary 11.0
24 hemoglobinopathy 10.9
25 long-thumb brachydactyly syndrome 10.9
26 heart-hand syndrome, spanish type 10.9
27 spondylometaphyseal dysplasia, sedaghatian type 10.9
28 myopathy, x-linked, with postural muscle atrophy 10.9
29 emery-dreifuss muscular dystrophy 1, x-linked 10.9
30 neuropathy, ataxia, and retinitis pigmentosa 10.9
31 emery-dreifuss muscular dystrophy 4, autosomal dominant 10.9
32 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.9
33 emery-dreifuss muscular dystrophy 7, autosomal dominant 10.9
34 emery-dreifuss muscular dystrophy 3, autosomal recessive 10.9
35 leber hereditary optic neuropathy 10.9
36 subacute cerebellar degeneration 10.9
37 semicircular canal dehiscence syndrome 10.9
38 myopathy, proximal, and ophthalmoplegia 10.5 LMNA RYR1
39 sick sinus syndrome 10.4 LMNA SCN5A
40 brugada syndrome 1 10.3 KCNH2 SCN5A
41 arrhythmogenic right ventricular dysplasia, familial, 8 10.3 DSP RYR2
42 arrhythmogenic right ventricular dysplasia, familial, 2 10.3 RYR1 RYR2
43 first-degree atrioventricular block 10.2 MYH7 SCN5A
44 central core disease of muscle 10.2 RYR1 RYR2
45 muscle disorders 10.2 RYR1 RYR2
46 familial short qt syndrome 10.1 KCNH2 KCNQ1
47 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 DSP LMNA RYR2
48 peripartum cardiomyopathy 10.1 MYH7 SCN5A
49 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 DSP LMNA RYR2
50 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 DSP LMNA RYR2

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:
progressive atrial conduction defect
arrhythmia

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

Human phenotypes related to Cardiac Conduction Defect:

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

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 LMNA MYBPC3 MYH7 RYR1 RYR2 AKAP10
2 growth/size/body region MP:0005378 9.56 KCNQ1 LMNA RYR1 RYR2 AKAP10 SCN5A
3 craniofacial MP:0005382 9.55 LMNA RYR1 AKAP10 DSP KCNH2
4 muscle MP:0005369 9.28 LMNA MYBPC3 MYH7 RYR1 RYR2 SCN5A

Drugs & Therapeutics for Cardiac Conduction Defect

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

(show top 50) (show all 319)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
2
Spironolactone Approved Phase 4,Phase 2,Not Applicable 1952-01-7, 52-01-7 5833
3 Benidipine Approved, Investigational Phase 4 105979-17-7
4
Fosinopril Approved Phase 4 98048-97-6 55891
5
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3 58-93-5 3639
6
Valsartan Approved, Investigational Phase 4,Phase 3 137862-53-4 60846
7
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
8
Lidocaine Approved, Vet_approved Phase 4,Phase 2 137-58-6 3676
9
Amlodipine Approved Phase 4,Phase 3 88150-42-9 2162
10
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
11
Methyltestosterone Approved Phase 4 58-18-4 6010
12
Testosterone Approved, Investigational Phase 4 58-22-0 6013
13
Testosterone enanthate Approved Phase 4 315-37-7 9416
14
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
15
Eplerenone Approved Phase 4 107724-20-9 150310 443872
16
Carvedilol Approved, Investigational Phase 4,Phase 2 72956-09-3 2585
17
Nicorandil Approved, Investigational Phase 4,Not Applicable 65141-46-0 47528
18
Amiodarone Approved, Investigational Phase 4,Phase 3,Not Applicable 1951-25-3 2157
19
Sotalol Approved Phase 4,Phase 3,Not Applicable 959-24-0, 3930-20-9 5253
20
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
21
Apixaban Approved Phase 4 503612-47-3 10182969
22
Rivaroxaban Approved Phase 4 366789-02-8
23
Chlorthalidone Approved Phase 4 77-36-1 2732
24
nivolumab Approved Phase 4 946414-94-4
25
Propafenone Approved Phase 4 54063-53-5 4932
26
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Not Applicable 59-30-3 6037
27
Serine Approved, Nutraceutical Phase 4 56-45-1 5951
28 Cardiac Glycosides Phase 4
29 Glycoside Hydrolase Inhibitors Phase 4
30 Hypoglycemic Agents Phase 4,Phase 3,Not Applicable
31 diuretics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
32 Diuretics, Potassium Sparing Phase 4,Phase 3,Not Applicable
33 Hormone Antagonists Phase 4,Phase 3,Not Applicable
34 Hormones Phase 4,Phase 3,Phase 2,Not Applicable
35 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Not Applicable
36 Mineralocorticoid Receptor Antagonists Phase 4,Phase 2,Not Applicable
37 Mineralocorticoids Phase 4,Phase 2,Not Applicable
38 Natriuretic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
40 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Not Applicable
41 calcium channel blockers Phase 4,Phase 3,Phase 2
42 Calcium, Dietary Phase 4,Phase 3,Phase 2,Not Applicable
43 HIV Protease Inhibitors Phase 4,Phase 3
44
protease inhibitors Phase 4,Phase 3
45 Sodium Chloride Symporter Inhibitors Phase 4,Phase 3
46 Vasodilator Agents Phase 4,Phase 3,Not Applicable
47 Angiotensin Receptor Antagonists Phase 4
48 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1
49 Potassium Channel Blockers Phase 4,Phase 3,Not Applicable
50 Analgesics Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 403)
# Name Status NCT ID Phase Drugs
1 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
2 Impact of Acarbose on Abnormal Glucose Regulation in Patients With Coronary Artery Disease (AAA Trial) Unknown status NCT00858676 Phase 4 acarbose
3 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy Unknown status NCT00879060 Phase 4 spironolactone
4 IRIS : Use of Implantable Defibrillator in High-Risk Patients Early After Acute Myocardial Infarction Unknown status NCT00157768 Phase 4
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 Benidipine and Hydrochlorothiazide in Fosinopril Treated Chronic Kidney Disease Patients With Hypertension Unknown status NCT02646397 Phase 4 Fosinopril;Benidipine;Hydrochlorothiazide
7 A Randomized Trial of Angiotensin Receptor bLocker,Fimasartan, in Aortic Stenosis (ALFA Trial) Unknown status NCT01589380 Phase 4 Fimasartan;Placebo
8 Spontaneous Atrio Ventricular Conduction Preservation Completed NCT00655213 Phase 4
9 Multimodal Analgesic Technique for Control of Post-laproscopy Abdominal Pain Completed NCT03241602 Phase 4 Intraperitoneal lidocaine
10 Protective Effect of EPA on Cardiovascular Events Completed NCT00231738 Phase 4 Eicosapentaenoic acid ethyl ester(EPADEL Capsule 300 TM)
11 'Effect of CRT on Defibrillation Threshold Estimates' Study Completed NCT00626093 Phase 4
12 Predictive Risk Stratification Through T Variability in ICD Patients Without Pacing Indications Completed NCT00560768 Phase 4
13 POWER (Pulse Width Optimized Waveform Evaluation Trial) Completed NCT00311181 Phase 4
14 Survival of Patients With Primary Prophylactic ICD Indication Completed NCT00619593 Phase 4
15 Comparison of Valsartan With Amlodipine in Hypertensive Patients With Glucose Intolerance Completed NCT00129233 Phase 4 Valsartan;Amlodipine
16 The Use of Dual Chamber ICD With Special Programmed Features to Lower the Risk of Inappropriate Shock Completed NCT00787800 Phase 4
17 Effects of Testosterone on Myocardial Repolarization Completed NCT03126656 Phase 4 Testosterone Undecanoate
18 Trop-Shock DFT-testing Versus None Completed NCT01230086 Phase 4
19 Physiologic Evaluation of Anomalous Right Coronary Artery Stenosis Completed NCT01133054 Phase 4
20 OptiLink HF Study: Optimization of Heart Failure Management Using Medtronic OptiVol Fluid Status Monitoring and CareLink Network Completed NCT00769457 Phase 4
21 Impact Of Eplerenone On Cardiovascular Outcomes In Patients Post Myocardial Infarction Completed NCT01176968 Phase 4 Eplerenone;Placebo
22 Study of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy Completed NCT01293903 Phase 4 Qiliqiangxin capsule;Placebo
23 Carvedilol Post-intervention Long-term Administration in Large-scale Trial Completed NCT01155635 Phase 4 Carvedilol;No Carvedilol
24 Assessment of Cardiac Resynchronization Therapy in Patients With Wide QRS and Non-specific Intraventricular Conduction Delay: a Randomized Trial Recruiting NCT02454439 Phase 4
25 A Study of Ivabradine in African-American/Black's With Heart Failure & Left Ventricular Systolic Dysfunction Recruiting NCT03456856 Phase 4 5mg Ivabradine
26 Speed of Recovery of Reversal of Neuromuscular Blockade in Geriatric Patients Undergoing Spine Surgery Recruiting NCT03112993 Phase 4 sugammadex;Neostigmine
27 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
28 Evaluation of the Entresto Effect on Sympathic Nervous System in Patient With Heart Failure Recruiting NCT02787798 Phase 4 valsartan/sacubitril 100 mg;valsartan/sacubitril 200 mg
29 Comparison of Efficacy and Safety Among Dabigatran, Rivaroxaban, and Apixaban in Non-Valvular Atrial Fibrillation Recruiting NCT02666157 Phase 4 Dabigatran etexilate;Rivaroxaban;Apixaban
30 Syncope: Pacing or Recording in the Later Years Active, not recruiting NCT01423994 Phase 4
31 Prospective Study of End Stage Renal Disease Patients With Coronary Artery Disease Treated by Oral Nicorandil Active, not recruiting NCT01475123 Phase 4 Nicorandil
32 Comparing the Effects of Spironolactone With Chlortalidone on LV Mass in Patients With CKD Active, not recruiting NCT02502981 Phase 4 Spironolactone;Chlortalidone
33 Evolution of the Heart Function When Monitoring Immunotherapies Anti-cancerous Inhibiting PD-1 Not yet recruiting NCT03313544 Phase 4 Nivolumab
34 Beta Blocker Interruption After Uncomplicated Myocardial Infarction Not yet recruiting NCT03498066 Phase 4 Beta-blockers withdrawal;Continuation of the Betablockers (βB) treatment
35 Clinical Efficacy of Potassium Canrenoate in Sinus Rhythm Restoration Among Patients With Atrial Fibrillation. Not yet recruiting NCT03536806 Phase 4 Saline 0.9%;Canrenone
36 To Determine Optimal Time for Delivering Electrical Shocks to Cardiac Arrest Patients Not yet recruiting NCT01665755 Phase 4
37 Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS) Not yet recruiting NCT03228823 Phase 4 Amiodarone (Antiarrhythmic drug)
38 CORE: Study to Evaluate the Conducted AF-Response-Algorithm in Patients Suffering From Heart Failure and Atrial Fibrillation Terminated NCT00170313 Phase 4
39 RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy Unknown status NCT00127582 Phase 3
40 Hemodynamic Efficiency of an Hemodialysis Treatment With High Permeability in Post-resuscitation Shock Unknown status NCT00780299 Phase 3
41 DAPERB 3,4-DiAminoPyridine and Electrophysiological Response in Brugada Syndrome Unknown status NCT00701077 Phase 3 3,4-Di-amino-Pyridine;placebo
42 Prevention of Cardiovascular Disease in Middle-aged and Elderly Iranians Using a Single PolyPill Unknown status NCT01271985 Phase 3 PolyPill
43 Continuous Positive Airway Pressure Versus Noninvasive Ventilation in Patients With Overlap Syndrome Unknown status NCT01427673 Phase 3
44 A Randomized Trial of Udenafil Therapy in Patients With Mild Pulmonary Hypertension [ULTIMATE-Mild PHT] Unknown status NCT01696240 Phase 3 Placebo;Udenafil (Zydena)
45 A Randomized Trial of Udenafil Therapy in Patients With Heart Failure With Preserved Ejection Fraction [ULTIMATE-HFpEF] Unknown status NCT01599117 Phase 3 Placebo;Udenafil (Zydena)
46 Comparison of AAIsafeR and DDD Modes in Non-selected Patients Completed NCT01219621 Phase 3
47 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
48 Safety and Efficacy of Saxagliptin Plus Insulin With or Without Metformin Completed NCT00757588 Phase 3 Saxagliptin, 5 mg + insulin;Placebo + insulin
49 OMEGA-Study: Effect of Omega 3-Fatty Acids on the Reduction of Sudden Cardiac Death After Myocardial Infarction Completed NCT00251134 Phase 3 Zodin (drug);Olive oil (placebo)
50 Effect of Ranolazine on Arrhythmias and Microvolt T- Wave Alternans (MVTWA) Patients With LV Dysfunction Completed NCT00998218 Phase 3 Ranolazine;Placebo

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, Lung, Brain, Thyroid, Bone

Publications for Cardiac Conduction Defect

Articles related to Cardiac Conduction Defect:

(show top 50) (show all 495)
# Title Authors Year
1
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
2
Management of sudden cardiac death in cardiac sarcoidosis using the wearable cardioverter defibrillator. ( 29566033 )
2018
3
Regarding the Case of Postpartum Sudden Cardiac Death After Spontaneous Coronary Artery Dissection in a Patient With Fibromuscular Dysplasia. ( 29904460 )
2018
4
Optimal Medications and Appropriate Implantable Cardioverter-defibrillator Shocks in Aborted Sudden Cardiac Death Due to Coronary Spasm. ( 29321418 )
2018
5
Status of cardiac arrhythmia services in Africa in 2018: a PASCAR Sudden Cardiac Death Task Force report. ( 29745966 )
2018
6
Chronic intermittent hypoxia promotes myocardial ischemia-related ventricular arrhythmias and sudden cardiac death. ( 29445096 )
2018
7
Identification of Pulmonary Edema in Forensic Autopsy Cases of Sudden Cardiac Death Using Fourier Transform Infrared Microspectroscopy: A Pilot Study. ( 29364657 )
2018
8
Obesity and sudden cardiac death in the young: Clinical and pathological insights from a large national registry. ( 29319343 )
2018
9
Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene. ( 29717556 )
2018
10
Prevention of sudden cardiac death in patients with Tetralogy of Fallot: Risk assessment and long term outcome. ( 29980366 )
2018
11
Sudden cardiac death in young athletes with long QT syndrome: the role of genetic testing and cardiovascular screening. ( 29931253 )
2018
12
Algorithms used to identify ventricular arrhythmias and sudden cardiac death in retrospective studies: a systematic literature review. ( 29224509 )
2018
13
Sudden cardiac death in patients with rheumatoid arthritis. ( 28824786 )
2017
14
Risk stratification of sudden cardiac death in hypertension. ( 28916176 )
2017
15
Heart Failure and Sudden Cardiac Death. ( 29173412 )
2017
16
Sudden Cardiac Death in Acute Coronary Syndromes. ( 29173413 )
2017
17
Molecular genetic diagnostics for ventricular arrhythmias and sudden cardiac death syndromes. ( 28616646 )
2017
18
[Predicting value of 2014 European guidelines risk prediction model for sudden cardiac death (HCM Risk-SCD) in Chinese patients with hypertrophic cardiomyopathy]. ( 29325362 )
2017
19
Traditional and novel electrocardiographic conduction and repolarization markers of sudden cardiac death. ( 27702850 )
2017
20
Can documented coronary vasospasm be the smoking gun in settling the etiology of sudden cardiac death? ( 28870013 )
2017
21
Sudden cardiac death in the young: the value of exercise testing. ( 28084955 )
2017
22
Implantable Cardioverter-Defibrillators in Sudden Cardiac Death Survivors: Are We Doing All We Can? ( 28867264 )
2017
23
Biomarkers in Cardiomyopathies and Prediction of Sudden Cardiac Death. ( 28669332 )
2017
24
Genetic causes of sudden cardiac death in children: inherited arrhythmogenic diseases. ( 28759457 )
2017
25
Association of the genetic markers for myocardial infarction with sudden cardiac death. ( 28400043 )
2017
26
Sudden cardiac death in a patient with advanced hepatocellular carcinoma with good response to sorafenib treatment: A case report with literature analysis. ( 28451419 )
2017
27
Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death. ( 28669108 )
2017
28
Sudden cardiac death among the young in Sweden from 2000 to 2010: an autopsy-based study. ( 28873959 )
2017
29
Vital exhaustion and sudden cardiac death in the Atherosclerosis Risk in Communities Study. ( 28928241 )
2017
30
Media attention regarding sudden cardiac death associated with domperidone use does not affect in hospital ECG recording. ( 28924989 )
2017
31
Age and strain related aberrant Ca(2+) release is associated with sudden cardiac death in the ACTC E99K mouse model of hypertrophic cardiomyopathy. ( 28887330 )
2017
32
Early repolarization is associated with a significantly increased risk of ventricular arrhythmias and sudden cardiac death in patients with structural heart diseases. ( 28416467 )
2017
33
Editorial commentary: QTdrugs: From electrocardiographic intervals to prevention of sudden cardiac death. ( 28882364 )
2017
34
Aborted Sudden Cardiac Death After Unroofing of Anomalous Left Coronary Artery. ( 28838524 )
2017
35
Rare case of infective endocarditis involving mitral annular calcification leading to hemopericardium and sudden cardiac death: a case report. ( 29288892 )
2017
36
Implantable cardioverter-defibrillator therapy among patients with non-ischaemic vs. ischaemic cardiomyopathy for primary prevention of sudden cardiac death. ( 28082419 )
2017
37
Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology. ( 28889247 )
2017
38
Fragmented QRS complex as a predictor of exercise-related sudden cardiac death. ( 28940877 )
2017
39
Sudden Cardiac Death. ( 28938708 )
2017
40
Gender differences in sudden cardiac death in the young-a nationwide study. ( 28061807 )
2017
41
2016 AHA/ACC Clinical Performance and Quality Measures for Prevention of Sudden Cardiac Death: A Report of the American College of Cardiology/American Heart Association Task Force on Performance Measures. ( 27993943 )
2017
42
Efficacy of Familial Screening After Sudden Cardiac Death in Young Adults Irrespective of Postmortem Analysis: Implication of a Pharmacological Challenge as a First Step of Screening. ( 28912208 )
2017
43
Sudden Cardiac Death in Ischemic Heart Disease: Pathophysiology and Risk Stratification. ( 29173410 )
2017
44
Clinical and Genetic Diagnosis of Nonischemic Sudden Cardiac Death. ( 28566242 )
2017
45
Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations. ( 28296734 )
2017
46
Postpartum Sudden Cardiac Death After Spontaneous Coronary Artery Dissection in a Patient With Fibromuscular Dysplasia. ( 29317976 )
2017
47
Looking forward: PACES Task Force on prevention of sudden cardiac death in the young: a comprehensive approach to a preventable problem. ( 28084975 )
2017
48
Comments on Letter to the Editor entitled: "Role of electrophysiological evaluation for the best device choice to prevent sudden cardiac death in patients with Myotonic Dystrophy Type1 and Emery Dreifuss Muscular Dystrophy". ( 28291654 )
2017
49
Thyroid-stimulating hormone and risk of sudden cardiac death, total mortality and cardiovascular morbidity. ( 28862752 )
2017
50
Association of Polymorphism in SCN5A, GJA5, and KCNN3 Gene with Sudden Cardiac Death. ( 28577096 )
2017

Variations for Cardiac Conduction Defect

ClinVar genetic disease variations for Cardiac Conduction Defect:

6
(show all 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 AKAP10 NM_007202.3(AKAP10): c.1936A> G (p.Ile646Val) single nucleotide variant risk factor rs203462 GRCh37 Chromosome 17, 19812541: 19812541
2 AKAP10 NM_007202.3(AKAP10): c.1936A> G (p.Ile646Val) single nucleotide variant risk factor rs203462 GRCh38 Chromosome 17, 19909228: 19909228
3 PLN NM_002667.4(PLN): c.116T> G (p.Leu39Ter) single nucleotide variant Pathogenic rs111033560 GRCh37 Chromosome 6, 118880200: 118880200
4 PLN NM_002667.4(PLN): c.116T> G (p.Leu39Ter) single nucleotide variant Pathogenic rs111033560 GRCh38 Chromosome 6, 118559037: 118559037
5 GPD1L NM_015141.3(GPD1L): c.520G> A (p.Glu174Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs112122950 GRCh37 Chromosome 3, 32188128: 32188128
6 GPD1L NM_015141.3(GPD1L): c.520G> A (p.Glu174Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs112122950 GRCh38 Chromosome 3, 32146636: 32146636
7 ANK2 NM_001148.4(ANK2): c.9173G> A (p.Arg3058His) single nucleotide variant Uncertain significance rs730880048 GRCh38 Chromosome 4, 113357791: 113357791
8 ANK2 NM_001148.4(ANK2): c.9173G> A (p.Arg3058His) single nucleotide variant Uncertain significance rs730880048 GRCh37 Chromosome 4, 114278947: 114278947
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 CACNA1C NM_000719.6(CACNA1C): c.985G> A (p.Gly329Ser) single nucleotide variant Uncertain significance rs786205744 GRCh37 Chromosome 12, 2602424: 2602424
12 CACNA1C NM_000719.6(CACNA1C): c.985G> A (p.Gly329Ser) single nucleotide variant Uncertain significance rs786205744 GRCh38 Chromosome 12, 2493258: 2493258
13 HCN4 NM_005477.2(HCN4): c.2275G> A (p.Val759Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs62641689 GRCh38 Chromosome 15, 73323818: 73323818
14 HCN4 NM_005477.2(HCN4): c.2275G> A (p.Val759Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs62641689 GRCh37 Chromosome 15, 73616159: 73616159
15 DPP6 NM_001039350.2(DPP6): c.482C> T (p.Pro161Leu) single nucleotide variant Uncertain significance rs869025384 GRCh38 Chromosome 7, 154637867: 154637867
16 NEBL NM_006393.2(NEBL): c.2616G> T (p.Lys872Asn) single nucleotide variant Uncertain significance rs869025491 GRCh38 Chromosome 10, 20808655: 20808655
17 NEBL NM_006393.2(NEBL): c.2616G> T (p.Lys872Asn) single nucleotide variant Uncertain significance rs869025491 GRCh37 Chromosome 10, 21097584: 21097584
18 SCN3B NM_018400.3(SCN3B): c.587C> G (p.Ser196Cys) single nucleotide variant Uncertain significance rs777776827 GRCh37 Chromosome 11, 123504912: 123504912
19 SCN3B NM_018400.3(SCN3B): c.587C> G (p.Ser196Cys) single nucleotide variant Uncertain significance rs777776827 GRCh38 Chromosome 11, 123634204: 123634204
20 CACNA1C NM_000719.6(CACNA1C): c.5626A> G (p.Lys1876Glu) single nucleotide variant Uncertain significance rs869025368 GRCh37 Chromosome 12, 2794954: 2794954
21 CACNA1C NM_000719.6(CACNA1C): c.5626A> G (p.Lys1876Glu) single nucleotide variant Uncertain significance rs869025368 GRCh38 Chromosome 12, 2685788: 2685788
22 MYH7 NM_000257.3(MYH7): c.3853+1G> A single nucleotide variant Uncertain significance rs202031879 GRCh37 Chromosome 14, 23888691: 23888691
23 MYH7 NM_000257.3(MYH7): c.3853+1G> A single nucleotide variant Uncertain significance rs202031879 GRCh38 Chromosome 14, 23419482: 23419482
24 MYOM1 NM_003803.3(MYOM1): c.3190C> T (p.His1064Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs755409090 GRCh38 Chromosome 18, 3116444: 3116444
25 MYOM1 NM_003803.3(MYOM1): c.3190C> T (p.His1064Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs755409090 GRCh37 Chromosome 18, 3116442: 3116442
26 TRPM4 NM_017636.3(TRPM4): c.1826C> G (p.Ala609Gly) single nucleotide variant Uncertain significance rs547541099 GRCh38 Chromosome 19, 49188723: 49188723
27 TRPM4 NM_017636.3(TRPM4): c.1826C> G (p.Ala609Gly) single nucleotide variant Uncertain significance rs547541099 GRCh37 Chromosome 19, 49691980: 49691980
28 RYR2 NM_001035.2(RYR2): c.5416G> A (p.Ala1806Thr) single nucleotide variant Uncertain significance rs767728159 GRCh38 Chromosome 1, 237614544: 237614544
29 RYR2 NM_001035.2(RYR2): c.5416G> A (p.Ala1806Thr) single nucleotide variant Uncertain significance rs767728159 GRCh37 Chromosome 1, 237777844: 237777844
30 TRPM4 NM_017636.3(TRPM4): c.1575G> A (p.Trp525Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs71352737 GRCh38 Chromosome 19, 49182889: 49182889
31 TRPM4 NM_017636.3(TRPM4): c.1575G> A (p.Trp525Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs71352737 GRCh37 Chromosome 19, 49686146: 49686146
32 DSP NM_004415.3(DSP): c.2528C> A (p.Ser843Ter) single nucleotide variant Pathogenic rs1057518920 GRCh37 Chromosome 6, 7575619: 7575619
33 DSP NM_004415.3(DSP): c.2528C> A (p.Ser843Ter) single nucleotide variant Pathogenic rs1057518920 GRCh38 Chromosome 6, 7575386: 7575386
34 RYR2 NM_001035.2(RYR2): c.14650A> G (p.Met4884Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 237828440: 237828440
35 RYR2 NM_001035.2(RYR2): c.14650A> G (p.Met4884Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 237991740: 237991740
36 HCN4 NM_005477.2(HCN4): c.1928T> G (p.Leu643Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 73325005: 73325005
37 HCN4 NM_005477.2(HCN4): c.1928T> G (p.Leu643Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 73617346: 73617346
38 CACNA1C NM_000719.6(CACNA1C): c.1582T> G (p.Trp528Gly) single nucleotide variant Uncertain significance rs755846732 GRCh38 Chromosome 12, 2566495: 2566495
39 CACNA1C NM_000719.6(CACNA1C): c.1582T> G (p.Trp528Gly) single nucleotide variant Uncertain significance rs755846732 GRCh37 Chromosome 12, 2675661: 2675661

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
12.58 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 10.92 DSP KCNH2 KCNQ1 LMNA PLN RYR2
9 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 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle membrane GO:0030659 9.61 KCNQ1 RYR1 RYR2
2 sarcolemma GO:0042383 9.54 RYR1 RYR2 SCN5A
3 T-tubule GO:0030315 9.51 RYR1 SCN5A
4 smooth endoplasmic reticulum GO:0005790 9.49 RYR1 RYR2
5 muscle myosin complex GO:0005859 9.48 MYBPC3 MYH7
6 calcium channel complex GO:0034704 9.46 RYR1 RYR2
7 sarcoplasmic reticulum GO:0016529 9.43 PLN RYR1 RYR2
8 myosin filament GO:0032982 9.4 MYBPC3 MYH7
9 sarcomere GO:0030017 9.33 MYBPC3 MYH7 RYR2
10 junctional sarcoplasmic reticulum membrane GO:0014701 9.32 RYR1 RYR2
11 sarcoplasmic reticulum membrane GO:0033017 9.13 PLN RYR1 RYR2
12 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 40)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.93 KCNH2 KCNQ1 RYR1 RYR2 SCN5A
2 transmembrane transport GO:0055085 9.91 KCNH2 KCNQ1 RYR1 RYR2 SCN5A
3 ion transmembrane transport GO:0034220 9.87 KCNQ1 RYR1 RYR2 SCN5A
4 regulation of ion transmembrane transport GO:0034765 9.83 KCNH2 KCNQ1 SCN5A
5 calcium ion transport GO:0006816 9.82 PLN RYR1 RYR2
6 cellular calcium ion homeostasis GO:0006874 9.79 PLN RYR1 RYR2
7 skin development GO:0043588 9.68 DSP RYR1
8 release of sequestered calcium ion into cytosol GO:0051209 9.68 RYR1 RYR2
9 muscle filament sliding GO:0030049 9.68 MYBPC3 MYH7
10 regulation of heart contraction GO:0008016 9.67 KCNQ1 PLN
11 membrane depolarization during action potential GO:0086010 9.67 KCNH2 SCN5A
12 striated muscle contraction GO:0006941 9.67 MYBPC3 MYH7
13 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.66 MYBPC3 MYH7
14 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.66 PLN RYR2
15 positive regulation of heart rate GO:0010460 9.65 KCNQ1 RYR2
16 regulation of the force of heart contraction GO:0002026 9.64 MYH7 PLN
17 positive regulation of potassium ion transmembrane transport GO:1901381 9.64 KCNH2 KCNQ1
18 regulation of membrane repolarization GO:0060306 9.63 KCNH2 KCNQ1
19 cellular response to epinephrine stimulus GO:0071872 9.63 KCNQ1 RYR2
20 regulation of cardiac conduction GO:1903779 9.63 PLN RYR1 RYR2
21 regulation of cardiac muscle cell contraction GO:0086004 9.62 PLN SCN5A
22 membrane repolarization GO:0086009 9.61 KCNH2 KCNQ1
23 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.61 DSP RYR2
24 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.6 KCNH2 KCNQ1
25 atrial cardiac muscle cell action potential GO:0086014 9.59 KCNQ1 SCN5A
26 potassium ion export GO:0071435 9.58 KCNH2 KCNQ1
27 response to caffeine GO:0031000 9.58 RYR1 RYR2
28 cardiac conduction GO:0061337 9.58 KCNH2 KCNQ1 SCN5A
29 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.56 KCNH2 KCNQ1
30 cellular response to caffeine GO:0071313 9.55 RYR1 RYR2
31 regulation of cytosolic calcium ion concentration GO:0051480 9.54 PLN RYR1 RYR2
32 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.52 RYR1 RYR2
33 regulation of heart rate GO:0002027 9.5 MYH7 RYR2 SCN5A
34 membrane repolarization during action potential GO:0086011 9.49 KCNH2 KCNQ1
35 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.48 KCNQ1 SCN5A
36 regulation of heart rate by cardiac conduction GO:0086091 9.46 DSP KCNH2 KCNQ1 SCN5A
37 potassium ion export across plasma membrane GO:0097623 9.43 KCNH2 KCNQ1
38 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.43 KCNH2 KCNQ1 SCN5A
39 ventricular cardiac muscle cell action potential GO:0086005 9.26 KCNH2 KCNQ1 RYR2 SCN5A
40 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 voltage-gated ion channel activity GO:0005244 9.67 KCNH2 KCNQ1 SCN5A
2 ion channel binding GO:0044325 9.65 KCNQ1 RYR2 SCN5A
3 delayed rectifier potassium channel activity GO:0005251 9.54 KCNH2 KCNQ1
4 protein kinase A regulatory subunit binding GO:0034237 9.51 KCNQ1 RYR2
5 protein kinase A catalytic subunit binding GO:0034236 9.46 KCNQ1 RYR2
6 ion channel activity GO:0005216 9.46 KCNH2 RYR1 RYR2 SCN5A
7 calcium-release channel activity GO:0015278 9.43 RYR1 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 ryanodine-sensitive calcium-release channel activity GO:0005219 9.32 RYR1 RYR2
12 calcium-induced calcium release activity GO:0048763 9.26 RYR1 RYR2
13 scaffold protein binding GO:0097110 8.92 DSP KCNH2 KCNQ1 SCN5A
14 protein binding GO:0005515 10.26 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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