SND
MCID: SCK002
MIFTS: 55

Sick Sinus Syndrome (SND)

Categories: Cardiovascular diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Sick Sinus Syndrome

MalaCards integrated aliases for Sick Sinus Syndrome:

Name: Sick Sinus Syndrome 12 25 36 54 6 15 71 32
Sinus Node Dysfunction 25 71
Sinus Node Disease 25 6
Sinus Node Infection 12
Sss 25
Snd 25

Classifications:



External Ids:

Disease Ontology 12 DOID:13884
KEGG 36 H00729
NCIt 49 C62244
SNOMED-CT 67 36083008
ICD10 32 I49.5
UMLS 71 C0037052 C0428908

Summaries for Sick Sinus Syndrome

Genetics Home Reference : 25 Sick sinus syndrome (also known as sinus node dysfunction) is a group of related heart conditions that can affect how the heart beats. "Sick sinus" refers to the sino-atrial (SA) node, which is an area of specialized cells in the heart that functions as a natural pacemaker. The SA node generates electrical impulses that start each heartbeat. These signals travel from the SA node to the rest of the heart, signaling the heart (cardiac) muscle to contract and pump blood. In people with sick sinus syndrome, the SA node does not function normally. In some cases, it does not produce the right signals to trigger a regular heartbeat. In others, abnormalities disrupt the electrical impulses and prevent them from reaching the rest of the heart. Sick sinus syndrome tends to cause the heartbeat to be too slow (bradycardia), although occasionally the heartbeat is too fast (tachycardia). In some cases, the heartbeat rapidly switches from being too fast to being too slow, a condition known as tachycardia-bradycardia syndrome. Symptoms related to abnormal heartbeats can include dizziness, light-headedness, fainting (syncope), a sensation of fluttering or pounding in the chest (palpitations), and confusion or memory problems. During exercise, many affected individuals experience chest pain, difficulty breathing, or excessive tiredness (fatigue). Once symptoms of sick sinus syndrome appear, they usually worsen with time. However, some people with the condition never experience any related health problems. Sick sinus syndrome occurs most commonly in older adults, although it can be diagnosed in people of any age. The condition increases the risk of several life-threatening problems involving the heart and blood vessels. These include a heart rhythm abnormality called atrial fibrillation, heart failure, cardiac arrest, and stroke.

MalaCards based summary : Sick Sinus Syndrome, also known as sinus node dysfunction, is related to sick sinus syndrome 1 and sick sinus syndrome 3. An important gene associated with Sick Sinus Syndrome is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Cardiac conduction and Neuroscience. The drugs Amiodarone and Propafenone have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and atrioventricular node, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

KEGG : 36 Sick sinus syndrome (SSS) comprises a variety of conditions involving sinus node dysfunction and commonly affects elderly persons. Patients may experience syncope, pre-syncope, palpitations, or dizziness. SSS has multiple manifestations on electrocardiogram, including sinus bradycardia, sinus arrest, sinoatrial block, and alternating patterns of bradycardia and tachycardia. Autosomal recessive type (SSS1) can be caused by compound heterozygous mutation in the SCN5A gene, and autosomal dominant type (SSS2) can be caused by heterozygous mutation in the HCN4. SCN5A encodes an alpha-subunit of the cardiac sodium channel carrying the current to form a rapid upstroke of action potential, whereas HCN4 codes for an alpha-subunit of hyperpolarization-activated cation channel.

Wikipedia : 74 Sick sinus syndrome (SSS), is a group of abnormal heart rhythms (arrhythmias) presumably caused by a... more...

Related Diseases for Sick Sinus Syndrome

Diseases in the Sick Sinus Syndrome family:

Sick Sinus Syndrome 2 Sick Sinus Syndrome 1
Sick Sinus Syndrome 3 Familial Sick Sinus Syndrome

Diseases related to Sick Sinus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 365)
# Related Disease Score Top Affiliating Genes
1 sick sinus syndrome 1 35.2 SCN5A LOC110121269
2 sick sinus syndrome 3 35.1 MYH6 LOC114827851
3 familial sick sinus syndrome 34.7 SCN5A MYH6 HCN4 AGT
4 cardiac arrhythmia, ankyrin-b-related 32.1 SNTA1 SCN5A CACNA1C ANK2
5 syncope 31.6 TTN SCN5A NPPA
6 atrioventricular block 30.8 TTN SCN5A LMNA HCN4 GJA5 CACNA1C
7 cardiac conduction defect 30.7 SCN5A LMNA ANK2
8 first-degree atrioventricular block 30.6 SCN5A LMNA
9 familial long qt syndrome 30.5 SCN5A CACNA1C
10 progressive familial heart block, type ia 30.5 TTN SCN5A GJA5 ANK2
11 right bundle branch block 30.5 SCN5A SCN1B RANGRF HCN4 CACNA1C
12 mitral valve insufficiency 30.4 NPPA MYH6 F2
13 atrial standstill 30.4 SCN5A NPPA GJA5
14 heart septal defect 30.4 NPPA MYH6 GJA5 F2
15 brugada syndrome 1 30.3 SCN5A SCN10A LOC110121269
16 cardiac arrhythmia 30.3 SCN5A RANGRF CACNA1C ANK2
17 heart valve disease 30.3 TGFB1 NPPA MYH6 F2
18 cardiac arrest 30.3 TTN SCN5A MYH6 HCN4 ANK2
19 familial isolated dilated cardiomyopathy 30.3 TTN SCN5A MYH6
20 second-degree atrioventricular block 30.3 SCN5A HCN4
21 sinoatrial node disease 30.2 SCN5A SCN1B MYH6 HCN4 GJA5 CACNA1C
22 restrictive cardiomyopathy 30.1 TTN MYH6 LMNA CACNA1C
23 cardiomyopathy, dilated, 1e 30.1 TTN SCN5A LMNA
24 mitral valve disease 30.1 NPPA F2 AGT
25 pulmonary edema 30.1 NPPA F2 AGT
26 ebstein anomaly 30.0 SCN5A MYH6 HCN4 GJA5
27 tetralogy of fallot 30.0 SCN5A NPPA MYH6 GJA5
28 third-degree atrioventricular block 29.9 TTN SCN5A HCN4 GJA5
29 systolic heart failure 29.9 TTN NPPA AGT
30 lipoprotein quantitative trait locus 29.8 SCN5A NPPA MYH6 F2
31 long qt syndrome 2 29.8 SNTA1 SCN5A CACNA1C ANK2
32 aortic valve disease 2 29.7 TTN NPPA MYH6 AGT
33 congestive heart failure 29.7 TTN SCN5A NPPA MYH6 LMNA GJA5
34 holt-oram syndrome 29.7 NPPA MYH6 LMNA GJA5
35 atrial heart septal defect 29.6 TTN SCN5A NPPA MYH6 HCN4 GJA5
36 diastolic heart failure 29.6 TTN TGFB1 NPPA AGT
37 respiratory failure 29.6 TTN NPPA MECP2 F2
38 short qt syndrome 29.6 SCN5A SCN1B CACNA1C ANK2
39 long qt syndrome 3 29.6 SNTA1 SCN5A SCN1B LOC110121269 CACNA1C ANK2
40 wolff-parkinson-white syndrome 29.5 SCN5A MYH6 HCN4 GJA5 ANK2
41 atrial standstill 1 29.3 TTN SCN5A SCN1B NPPA MYH6 LMNA
42 arrhythmogenic right ventricular cardiomyopathy 29.3 TTN SCN5A MYH6 LMNA HCN4 CACNA1C
43 myocardial infarction 29.0 TGFB1 SCN5A NPPA MYH6 F2 AGT
44 hypertension, essential 28.9 TGFB1 NPPA MYH6 GJA5 F2 CACNA1C
45 left ventricular noncompaction 28.6 TTN SNTA1 SCN5A MYH6 LOC114827851 LOC110121269
46 long qt syndrome 28.5 TTN SNTA1 SCN5A SCN1B MYH6 LOC110121269
47 catecholaminergic polymorphic ventricular tachycardia 28.3 SNTA1 SCN5A SCN1B MYH6 LMNA HCN4
48 hypertrophic cardiomyopathy 28.1 TTN TGFB1 SCN5A NPPA MYH6 LMNA
49 brugada syndrome 28.1 TTN SNTA1 SCN5A SCN1B SCN10A RANGRF
50 atrial fibrillation 28.0 TTN TGFB1 SCN5A SCN1B NPPA LMNA

Graphical network of the top 20 diseases related to Sick Sinus Syndrome:



Diseases related to Sick Sinus Syndrome

Symptoms & Phenotypes for Sick Sinus Syndrome

GenomeRNAi Phenotypes related to Sick Sinus Syndrome according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.4 TGFB1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.4 ANK2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.4 ANK2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-12 9.4 SCN5A
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-140 9.4 TGFB1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.4 SCN1B
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-143 9.4 TGFB1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-146 9.4 SCN5A
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.4 ANK2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-37 9.4 ANK2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-56 9.4 TGFB1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-67 9.4 ANK2

MGI Mouse Phenotypes related to Sick Sinus Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 AGT CACNA1C F2 LMNA MECP2 MYH6
2 cardiovascular system MP:0005385 10.22 AGT CACNA1C F2 GJA5 HCN4 LMNA
3 homeostasis/metabolism MP:0005376 10.18 AGT CACNA1C F2 GJA5 LMNA MECP2
4 mortality/aging MP:0010768 10.13 AGT CACNA1C F2 GJA5 HCN4 LMNA
5 muscle MP:0005369 10 AGT CACNA1C GJA5 HCN4 LMNA MYH6
6 nervous system MP:0003631 9.9 AGT CACNA1C F2 HCN4 LMNA MECP2
7 normal MP:0002873 9.56 F2 GJA5 HCN4 LMNA MECP2 SCN1B
8 respiratory system MP:0005388 9.23 F2 GJA5 LMNA MECP2 MYH6 SCN10A

Drugs & Therapeutics for Sick Sinus Syndrome

Drugs for Sick Sinus Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 90)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
2
Propafenone Approved Phase 4 54063-53-5 4932
3
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
4
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
5
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
6
Nebivolol Approved, Investigational Phase 4 99200-09-6, 118457-14-0, 152520-56-4 71301
7
Atenolol Approved Phase 4 29122-68-7 2249
8
Ethanol Approved Phase 4 64-17-5 702
9
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
10
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
11
Bisoprolol Approved Phase 4 66722-44-9 2405
12
Ticagrelor Approved Phase 4 274693-27-5 9871419
13
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
14
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
15
Sotalol Approved Phase 4 3930-20-9, 959-24-0 5253
16 Angiotensinogen Phase 4
17 Angiotensin II Type 1 Receptor Blockers Phase 4
18 Angiotensin Receptor Antagonists Phase 4
19 Giapreza Phase 4
20 Potassium Channel Blockers Phase 4
21 Cytochrome P-450 CYP3A Inhibitors Phase 4
22 Adrenergic beta-Agonists Phase 4
23 Vasodilator Agents Phase 4
24 Adrenergic Agonists Phase 4
25 Hydrocortisone 17-butyrate 21-propionate Phase 4
26 Hydrocortisone hemisuccinate Phase 4
27 Anti-Inflammatory Agents Phase 4
28 Analgesics, Non-Narcotic Phase 4
29 Fibrinolytic Agents Phase 4
30 Analgesics Phase 4
31 Purinergic P2Y Receptor Antagonists Phase 4
32 Antipyretics Phase 4
33 Platelet Aggregation Inhibitors Phase 4
34 Cyclooxygenase Inhibitors Phase 4
35 Antirheumatic Agents Phase 4
36 Anti-Inflammatory Agents, Non-Steroidal Phase 4
37 Respiratory System Agents Phase 4
38 Albuterol Phase 4
39 Anti-Asthmatic Agents Phase 4
40 Bronchodilator Agents Phase 4
41 Tocolytic Agents Phase 4
42 Antihypertensive Agents Phase 4
43 Adrenergic beta-1 Receptor Antagonists Phase 4
44 Adrenergic beta-Antagonists Phase 4
45 Anti-Arrhythmia Agents Phase 4
46 Adrenergic Agents Phase 4
47 Adrenergic Antagonists Phase 4
48 Sympatholytics Phase 4
49 Neurotransmitter Agents Phase 4
50 Sodium Channel Blockers Phase 4

Interventional clinical trials:

(show top 50) (show all 104)
# Name Status NCT ID Phase Drugs
1 A Randomized, Prospective Multicenter Study to Determine the Incidence of Atrial Fibrillation and Heart Failure in Correlation to Stimulation Modes of Pacemakers Unknown status NCT00161551 Phase 4
2 Arrhythmia Restart Prevention and RatE STabilization in Atrial Fibrillation Unknown status NCT00224341 Phase 4
3 IntAct, Study on Promotion of Intrinsic Activity. Unknown status NCT00156741 Phase 4
4 Antiarrhythmic Drugs Assessment in Preventing Atrial Fibrillation Unknown status NCT02145546 Phase 4 Amiodarone;Propafenone;Sotalol
5 Comparative Study of the Effects of Telmisartan and Nebivolol on 24-h Ambulatory Blood Pressure and Arterial Stiffness in Patients With Arterial Hypertension Unknown status NCT02057328 Phase 4 TELMISARTAN;NEBIVOLOL
6 Prevention of Atrial Arrhythmia in Patients Without AV Conduction Disease Completed NCT01170611 Phase 4
7 Spontaneous Atrio Ventricular Conduction Preservation Completed NCT00655213 Phase 4
8 A Randomized, Prospective Multicenter Study to Examine the Optimal Position of the Atrial Leads for Therapy of the Sinus Node Syndrome Completed NCT00161538 Phase 4
9 The Impact of Heart Rate on Central Hemodynamics in Sick Sinus Syndrome Patients With a Permanent Cardiac Pacemaker Completed NCT03245996 Phase 4 Atenolol Pill;Nebivolol Pill;Ivabradine Pill
10 Analyse Der Unterschiede Zwischen Aktiv-fixierenden Und Passiv-fixierenden Stimulations-Elektroden Hinsichtlich Implantationsdauer Und Elektrischer Parameter Completed NCT00180557 Phase 4
11 Falls and Cardiovascular Events in Elderly Patients With Sinus Node Disease Treated With a MVPTM Pacemaker According to the ESC 2007 Guidelines Completed NCT01037426 Phase 4
12 Investigational New Drug Application/ Investigational Device Exemption Information Completed NCT00239226 Phase 4
13 Syncope: Pacing or Recording in the Later Years (SPRITELY) Completed NCT01423994 Phase 4
14 CLEAR: Cylos Pacemaker Responds With Physiologic Rate Changes During Daily Activities Completed NCT00355797 Phase 4
15 Bisoprolol Versus Corticosteroid and Bisoprolol Combination for Prophylaxis Against Atrial Fibrillation After on Pump Coronary Artery Bypass Surgery Completed NCT03800264 Phase 4 Bisoprolol
16 Reversal of the Anti-platelet Effects of Ticagrelor in Healthy Persons and Patients With Coronary Artery Disease Completed NCT02383771 Phase 4 Ticagrelor;Aspirin + Ticagrelor;Control;Aspirin + Ticagrelor
17 The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult Ventrucular Septal Defect Patients With Persistant or Surgically Corrected Conditions - The VENTI Trial Completed NCT02914652 Phase 4 Salbutamol;Norflouran (Placebo Evohaler(R) )
18 Beta-blockeRs tO patieNts With CHronIc Obstructive puLmonary diseasE Recruiting NCT03566667 Phase 4 Metoprolol;Standard care
19 A Prospective, Multi-Center, Randomized, Open Label Trial to Determine if a Common Atrial Fibrillation Risk Locus Modulates Differential Response to Antiarrhythmic Drugs Not yet recruiting NCT02347111 Phase 4 Flecainide;Sotalol
20 EnPulse Trial on Search AV+ Influence Terminated NCT00157794 Phase 4
21 VIRTUE: Virtual Clinic Pacemaker Follow-up Terminated NCT00475124 Phase 4
22 Irbesartan for the Prevention of Atrial Arrhythmias and Cardiac Electrical Remodeling in Patients With Hypertension, Permanent Pacemakers and Risk Factors for Developing Atrial Fibrillation Unknown status NCT00225667 Phase 3 Irbesartan
23 Role of ALiskiren, a Direct Renin Inhibitor, in Preventing Atrial Fibrillation in Patients With a Pacemaker; RALF. A Double-blind, Randomized, Parallel-group, Single Centre Study Unknown status NCT02909166 Phase 3 aliskiren
24 Phase 3, Prospective, Randomized, Double-blinded, Placebo-controlled Study to Evaluate Efficacy of add-on Therapy With Spironolactone to Reduce Diffuse Myocardial Fibrosis Thus Preventing Recurrent Episodes of Atrial Fibrillation in Patients With Paroxysmal or Persistent Atrial Fibrillation and Preserved Ejection Fraction Compared to Usual Care. Unknown status NCT02764619 Phase 3 Spironolactone;Placebo
25 Mode Selection Trial in Sinus Node Dysfunction (MOST) Completed NCT00000561 Phase 3
26 Increasing Atrial Base Rate Pacing to Reduce Atrial Fibrillation Completed NCT02317068 Phase 3
27 A Prospective Canadian Multi-Center Randomized Study; Spontaneous AtrioVEntricular Conduction PReservation Completed NCT01219621 Phase 3
28 Treatment of Preclinical Hypertrophic Cardiomyopathy With Diltiazem Completed NCT00319982 Phase 2, Phase 3 Diltiazem;Placebo
29 A Randomized Double-blind Placebo Force-titration Controlled Study With Bisoprolol in Patients With Chronic Heart Failure Secondary to Chagas´ Cardiomyopathy. Completed NCT00323973 Phase 3 Bisoprolol
30 Randomized Noninferiority Study of an Antibacterial Envelope Alone Versus Envelope Plus Intraoperative Antibacterial Irrigant and Postoperative Antibiotics to Prevent Cardiac Implantable Electronic Device Infections in High-Risk Patients Recruiting NCT02809131 Phase 3 polymixin/bacitracin;cephalexin, or levofloxacin, or clindamycin;Saline
31 A Randomized Trial of Closed Loop Stimulation After Epicardial Pacemaker Implantation for Congenital Heart Disease Not yet recruiting NCT03361189 Phase 2, Phase 3
32 The Danish Multicenter Randomised Study on AAI Versus DDD Pacing in Sick Sinus Syndrome Terminated NCT00236158 Phase 2, Phase 3
33 Combination of Hydroxyurea and Verapamil for Refractory Meningiomas Completed NCT00706810 Phase 2 Hydroxyurea;Verapamil
34 Minimizing Right Ventricular Pacing in Dual-chamber Pacemaker Patients With Sinus Node Disease and First Degree Atrioventricular Block. Unknown status NCT01611389
35 Identification of Gene Polymorphism in Patients With Sick Sinus Syndrome in Chinese Population in Taiwan Unknown status NCT00314223
36 The Role of Angiotensinogen Gene Polymorphism in the Pathogenesis of Non-familial Sick Sinus Syndrome Unknown status NCT01310920
37 The Effect of Losartan on Atrial Fibrillation and Pacemaker Dependence in Sick Sinus Syndrome (SSS) Patients Receiving Physiological Pacemaker - A Prospective, Randomized, Multicenter Study in Taiwan Unknown status NCT00647257 Losartan;Placebo
38 Left Ventricular Function and Remodelling During Permanent Pacing Unknown status NCT00228241
39 Identify the Genes Polymorphisms Related to Non-familial Bradyarrhythmia Unknown status NCT01310907
40 Impact of Left Ventricular Pacing on Left Ventricular Systolic Function in High-risk Bradycardia Patients Unknown status NCT01302717
41 Comparison of Right Ventricular Septal Pacing to Minimized Right Ventricular Septal Stimulation in Patients With Sick Sinus Syndrome Unknown status NCT01477138
42 Impact of Septal Vs Apical Pacing on Right and Left Ventricular Performance Unknown status NCT01798043
43 Left Ventricular Pacing to Prevent Iatrogenic Tricuspid Regurgitation Caused by Conventional Right Ventricular Pacing: a Pilot Study Unknown status NCT02314897
44 Right Ventricular Lead Placement in a Pacemaker Population: Evaluation of Apical and Alternative Position - Right Pace Study Unknown status NCT01647490
45 A Trial Comparing the Sensitivity and Specificity of Coronary Angiography With Coronary CT Angiography Unknown status NCT00146887
46 Left Ventricular Septal Pacing: Potential Application for Cardiac Resynchronization Therapy Unknown status NCT03415945
47 Perioperative Administration of COX 2 Inhibitors and Beta Blockers in Women Undergoing Breast Cancer Surgery: an Intervention to Decrease Immune Suppression, Metastatic Potential and Cancer Recurrence Unknown status NCT00502684 Propranolol, etodolac
48 Registry to Improve the Adoption of Consensus Treatment Guidelines (IMPROVE Brady) Completed NCT01643707
49 INGEVITY(TM) Active Fixation and Passive Fixation Pace/ Sense Lead Clinical Study Completed NCT01688843
50 Clinical Observations of Automatic Algorithms for Cardiac Pacing Completed NCT00286858

Search NIH Clinical Center for Sick Sinus Syndrome

Genetic Tests for Sick Sinus Syndrome

Anatomical Context for Sick Sinus Syndrome

MalaCards organs/tissues related to Sick Sinus Syndrome:

40
Heart, Testes, Atrioventricular Node, Brain, Endothelial, Breast, Lung

Publications for Sick Sinus Syndrome

Articles related to Sick Sinus Syndrome:

(show top 50) (show all 3469)
# Title Authors PMID Year
1
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 6 61
18451998 2008
2
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 6
10377081 1999
3
Cardiac sodium channel Na(v)1.5 and interacting proteins: Physiology and pathophysiology. 54 61
19744495 2010
4
Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation. 61 54
20395683 2010
5
Mouse models of SCN5A-related cardiac arrhythmias. 54 61
19041666 2008
6
A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia. 54 61
17897635 2007
7
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 61 54
14523039 2003
8
[An intrapatient comparison of adaptation to aerobic and anaerobic exertion during 3 types of physiological cardiac stimulation in chronotropic failure of the sinus node: DDD, VVIR and DDDR]. 61 54
9118155 1997
9
[Secretion of atrial natriuretic peptide during artificial pacing: assessments including the influence of ventriculoatrial conduction]. 54 61
1307573 1992
10
Clinical profile and outcome of familial versus non-familial atrial fibrillation. 61
32273045 2020
11
Validation of the modified Microlife blood pressure monitor in patients with paroxysmal atrial fibrillation. 61
31701215 2020
12
Short-term and intermediate-term performance and safety of left bundle branch pacing. 61
32239598 2020
13
Inhibition of G protein-gated K+ channels by tertiapin-Q rescues sinus node dysfunction and atrioventricular conduction in mouse models of primary bradycardia. 61
32555258 2020
14
Immediate and long-term need for permanent cardiac pacing following aortic valve replacement. 61
31809597 2020
15
Epicardial pacemaker implantation for sick sinus syndrome in a patient with supra vena cava obstructed by a primary cardiac lymphoma. 61
32547661 2020
16
[Sinus node dysfunction, Brugada syndrome and long QT syndrome affecting the same patient : when genetics can't make head or tail of it]. 61
32496703 2020
17
[Indications for His bundle and left bundle branch pacing]. 61
32385573 2020
18
Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome. 61
32280589 2020
19
Comparison of prognosis and safety of pacemaker implantation in patients aged less than or 85 years and older. 61
32533276 2020
20
Permanent pacemaker implantation in pediatric heart transplant recipients: A systematic review and evidence quality assessment. 61
32189417 2020
21
Delayed-onset sinus node dysfunction in a child victim of Russell's viper bite. 61
32276541 2020
22
Closed-loop stimulation as a physiological rate-modulated pacing approach based on intracardiac impedance to lower the atrial tachyarrhythmia burden in patients with sinus node dysfunction and atrial fibrillation. 61
32128918 2020
23
Conduction Disorders: the value of Surface ECG. 61
32392118 2020
24
Comparison of safety and outcomes with two approaches to the mitral valve. 61
32365427 2020
25
Factors that influence marital satisfaction in men with a heart rhythm disorders. 61
32462954 2020
26
Permanent pacemaker implantation rates following cardiac surgery in the modern era. 61
32445118 2020
27
Cardiac and neuronal HCN channelopathies. 61
32424620 2020
28
Benefit of Rate Response with Closed-Loop Stimulation in Patients with Difficult Hemodialysis. 61
32418964 2020
29
Identification of Functional Variant Enhancers Associated with Atrial Fibrillation. 61
32248749 2020
30
Transseptal access and pulmonary vein isolation via internal jugular veins for persistent atrial fibrillation treatment in a patient with left atrial isomerism, sinus node dysfunction, and interrupted inferior vena cava: The usefulness of robotic magnetic navigation. 61
32322499 2020
31
Sinus node dysfunction characterized by reduction only in maximum heart rate during exercise after superior vena cava isolation in atrial fibrillation catheter ablation-A potential complication. 61
32322498 2020
32
Atrial involvement and progression of sinus node dysfunction in non-senile patients: evidences from electroanatomic mapping and long-term follow-up. 61
32318962 2020
33
Catheter Ablation is Effective for Recovery from Sinus Node Dysfunction in Patients with Atrial Fibrillation, But Close Monitoring is Still Needed. 61
32157833 2020
34
Molecular Signatures of Sinus Node Dysfunction Induce Structural Remodeling in the Right Atrial Tissue. 61
32235021 2020
35
Permanent Pacemaker Implantations after Catheter Ablation in Patients with Atrial Fibrillation Associated with Underlying Sinus Node Dysfunction. 61
31960638 2020
36
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features. 61
31698099 2020
37
Implantable cardiac electronic device therapy for patients with a systemic right ventricle. 61
32269130 2020
38
Cardiomyopathy associated with the Ala143Thr variant of the α-galactosidase A gene. 61
31949022 2020
39
Right Ventricular Perforation Presenting as Tingling of the Left Breast. 61
32467814 2020
40
Incidence of permanent pacemaker implantation after valve replacement surgery : Cardiac structure and function at 1-year follow-up. 61
32123932 2020
41
Clinical course of sinus node dysfunction after thoracoscopic surgery for atrial fibrillation-analysis of the Atrial Fibrillation Ablation and Autonomic Modulation via Thoracoscopic Surgery (AFACT) study. 61
32172425 2020
42
Molecular and tissue mechanisms of catecholaminergic polymorphic ventricular tachycardia. 61
32115705 2020
43
Loss of Pacer Spikes as electrocardiographic (EKG) Artifact Due to Microdebrider Use During Endoscopic Dacryocystorhinostomy. 61
31880683 2020
44
Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2. 61
31536832 2020
45
Lyme carditis presenting as sick sinus syndrome. 61
32007907 2020
46
Surgical Treatment of Primary Cardiac Tumor Associated with Malignant Arrhythmias. 61
32364911 2020
47
[ECG pearl: sick sinus syndrome mimicking acute coronary syndrome - the aVR-sign]. 61
32148097 2020
48
Generation of two iPSC lines (FAMRCi004-A and FAMRCi004-B) from patient with familial progressive cardiac conduction disorder carrying genetic variant DSP p.His1684Arg. 61
32062131 2020
49
Repair of Superior Sinus Venosus Atrial Septal Defect Using a Modified Two-Patch Technique. 61
31472131 2020
50
The risk factors of new-onset atrial fibrillation after pacemaker implantation. 61
32107563 2020

Variations for Sick Sinus Syndrome

ClinVar genetic disease variations for Sick Sinus Syndrome:

6 (show all 44) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN5A NM_000335.4(SCN5A):c.3890C>T (p.Pro1297Leu)SNV Pathogenic 9394 rs28937319 3:38603976-38603976 3:38562485-38562485
2 SCN5A NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)SNV Pathogenic/Likely pathogenic 9377 rs137854601 3:38592513-38592513 3:38551022-38551022
3 MECP2 NM_001110792.2(MECP2):c.148_152del (p.Glu50fs)deletion Likely pathogenic 813009 X:153297919-153297923 X:154032468-154032472
4 SCN5A NM_001099404.1(SCN5A):c.1252G>T (p.Glu418Ter)SNV Likely pathogenic 222805 rs869025519 3:38647528-38647528 3:38606037-38606037
5 SCN5A NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=)SNV Conflicting interpretations of pathogenicity 48300 rs9858585 3:38620852-38620852 3:38579361-38579361
6 SCN5A NM_198056.2(SCN5A):c.21T>A (p.Pro7=)SNV Conflicting interpretations of pathogenicity 139038 rs587781157 3:38674778-38674778 3:38633287-38633287
7 SCN5A NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)SNV Conflicting interpretations of pathogenicity 165155 rs41313693 3:38645524-38645524 3:38604033-38604033
8 SCN5A NM_000335.5(SCN5A):c.1068T>C (p.Asp356=)SNV Conflicting interpretations of pathogenicity 165156 rs41313703 3:38648232-38648232 3:38606741-38606741
9 SCN5A NM_198056.2(SCN5A):c.3228+6C>GSNV Conflicting interpretations of pathogenicity 345120 rs368048551 3:38622416-38622416 3:38580925-38580925
10 SCN5A NM_198056.2(SCN5A):c.2259C>T (p.Asn753=)SNV Conflicting interpretations of pathogenicity 345123 rs878911306 3:38639223-38639223 3:38597732-38597732
11 SCN5A NM_198056.2(SCN5A):c.2988C>T (p.Ala996=)SNV Conflicting interpretations of pathogenicity 345121 rs781529391 3:38622662-38622662 3:38581171-38581171
12 SCN5A NM_198056.2(SCN5A):c.687T>C (p.Thr229=)SNV Conflicting interpretations of pathogenicity 345129 rs770390440 3:38655250-38655250 3:38613759-38613759
13 SCN5A NM_198056.2(SCN5A):c.*2149G>ASNV Uncertain significance 345060 rs114517792 3:38589663-38589663 3:38548172-38548172
14 SCN5A NM_198056.2(SCN5A):c.*1836A>TSNV Uncertain significance 345066 rs886058438 3:38589976-38589976 3:38548485-38548485
15 SCN5A NM_198056.2(SCN5A):c.*1744C>GSNV Uncertain significance 345067 rs886058439 3:38590068-38590068 3:38548577-38548577
16 SCN5A NM_198056.2(SCN5A):c.*945C>ASNV Uncertain significance 345089 rs886058450 3:38590867-38590867 3:38549376-38549376
17 SCN5A NM_198056.2(SCN5A):c.6033C>A (p.Asp2011Glu)SNV Uncertain significance 345111 rs886058459 3:38591830-38591830 3:38550339-38550339
18 SCN5A NM_198056.2(SCN5A):c.1870C>A (p.Leu624Ile)SNV Uncertain significance 345126 rs886058463 3:38645223-38645223 3:38603732-38603732
19 SCN5A NM_198056.2(SCN5A):c.*1691G>TSNV Uncertain significance 345071 rs886058442 3:38590121-38590121 3:38548630-38548630
20 SCN5A NM_198056.2(SCN5A):c.*1673C>TSNV Uncertain significance 345072 rs886058443 3:38590139-38590139 3:38548648-38548648
21 SCN5A NM_198056.2(SCN5A):c.*725C>ASNV Uncertain significance 345094 rs886058451 3:38591087-38591087 3:38549596-38549596
22 SCN5A NM_198056.2(SCN5A):c.*634C>ASNV Uncertain significance 345098 rs886058453 3:38591178-38591178 3:38549687-38549687
23 SCN5A NM_198056.2(SCN5A):c.*6G>TSNV Uncertain significance 345110 rs776980213 3:38591806-38591806 3:38550315-38550315
24 SCN5A NM_198056.2(SCN5A):c.5945G>T (p.Arg1982Ile)SNV Uncertain significance 345113 rs774432823 3:38591918-38591918 3:38550427-38550427
25 SCN5A NM_198056.2(SCN5A):c.3384C>T (p.Cys1128=)SNV Uncertain significance 345119 rs561922849 3:38620831-38620831 3:38579340-38579340
26 SCN5A NM_198056.2(SCN5A):c.*1969C>TSNV Uncertain significance 345063 rs190416544 3:38589843-38589843 3:38548352-38548352
27 SCN5A NM_198056.2(SCN5A):c.*1943C>ASNV Uncertain significance 345064 rs569552176 3:38589869-38589869 3:38548378-38548378
28 SCN5A NM_198056.2(SCN5A):c.*1731G>CSNV Uncertain significance 345068 rs569249327 3:38590081-38590081 3:38548590-38548590
29 SCN5A NM_198056.2(SCN5A):c.*1705C>TSNV Uncertain significance 345069 rs886058440 3:38590107-38590107 3:38548616-38548616
30 SCN5A NM_198056.2(SCN5A):c.*1443C>ASNV Uncertain significance 345078 rs886058445 3:38590369-38590369 3:38548878-38548878
31 SCN5A NM_198056.2(SCN5A):c.*516G>TSNV Uncertain significance 345099 rs886058454 3:38591296-38591296 3:38549805-38549805
32 SCN5A NM_198056.2(SCN5A):c.*296G>ASNV Uncertain significance 345103 rs886058456 3:38591516-38591516 3:38550025-38550025
33 SCN5A NM_198056.2(SCN5A):c.2815C>T (p.Leu939Phe)SNV Uncertain significance 345122 rs886058462 3:38622835-38622835 3:38581344-38581344
34 SCN5A NM_198056.2(SCN5A):c.1598G>A (p.Arg533His)SNV Uncertain significance 180512 rs146848219 3:38645495-38645495 3:38604004-38604004
35 SNTA1 NM_003098.2(SNTA1):c.388T>C (p.Phe130Leu)SNV Uncertain significance 190929 rs199964677 20:32026755-32026755 20:33438949-33438949
36 HCN4 NM_005477.3(HCN4):c.3498_3501TTTG[1] (p.Phe1168fs)short repeat Uncertain significance 191377 rs786205259 15:73614929-73614932 15:73322588-73322591
37 SCN5A NM_198056.2(SCN5A):c.4267G>A (p.Asp1423Asn)SNV Uncertain significance 222810 rs746291609 3:38598754-38598754 3:38557263-38557263
38 SCN5A NM_198056.2(SCN5A):c.*1701G>TSNV Uncertain significance 345070 rs886058441 3:38590111-38590111 3:38548620-38548620
39 SCN5A NM_198056.2(SCN5A):c.*1602G>TSNV Uncertain significance 345073 rs886058444 3:38590210-38590210 3:38548719-38548719
40 SCN5A NM_198056.2(SCN5A):c.*980C>ASNV Uncertain significance 345086 rs886058449 3:38590832-38590832 3:38549341-38549341
41 SCN5A NM_198056.2(SCN5A):c.*73C>ASNV Uncertain significance 345109 rs886058458 3:38591739-38591739 3:38550248-38550248
42 SCN5A NM_198056.2(SCN5A):c.*2145_*2146insGAGAAGAGAGTAGGAAAAAGGAGGGinsertion Likely benign 345061 rs45592631 3:38589666-38589667 3:38548175-38548176
43 SCN5A NM_000335.4(SCN5A):c.*1453dupduplication Likely benign 345077 rs397763929 3:38590358-38590359 3:38548867-38548868
44 SCN5A NM_198056.2(SCN5A):c.1076C>A (p.Ala359Asp)SNV not provided 440929 rs1553704925 3:38648224-38648224 3:38606733-38606733

Expression for Sick Sinus Syndrome

Search GEO for disease gene expression data for Sick Sinus Syndrome.

Pathways for Sick Sinus Syndrome

Pathways related to Sick Sinus Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 TTN SCN5A SCN1B SCN10A RANGRF NPPA
2 12.36 SCN5A SCN1B SCN10A MECP2 AGT
3
Show member pathways
12.34 SCN5A SCN1B NPPA MYH6 CACNA1C AGT
4
Show member pathways
12 TTN TGFB1 MYH6 LMNA CACNA1C AGT
5
Show member pathways
11.8 SCN5A SCN1B SCN10A ANK2
6 11.49 NPPA CACNA1C AGT
7 11.36 TGFB1 SCN5A MYH6
8
Show member pathways
11.23 SCN5A SCN1B SCN10A RANGRF CACNA1C
9 11.1 SCN5A SCN1B SCN10A ANK2
10 10.92 SCN5A SCN1B LMNA HCN4 GJA5 CACNA1C

GO Terms for Sick Sinus Syndrome

Cellular components related to Sick Sinus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.62 SNTA1 SCN5A CACNA1C ANK2
2 T-tubule GO:0030315 9.46 SCN5A SCN1B CACNA1C ANK2
3 voltage-gated sodium channel complex GO:0001518 9.43 SCN5A SCN1B SCN10A
4 Z disc GO:0030018 9.35 TTN SCN5A MYH6 CACNA1C ANK2
5 intercalated disc GO:0014704 9.02 SCN5A SCN1B RANGRF GJA5 ANK2

Biological processes related to Sick Sinus Syndrome according to GeneCards Suite gene sharing:

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.92 SCN5A SCN1B SCN10A HCN4 CACNA1C
2 sodium ion transport GO:0006814 9.91 SCN5A SCN1B SCN10A HCN4
3 muscle contraction GO:0006936 9.88 TTN SNTA1 MYH6 HCN4
4 female pregnancy GO:0007565 9.85 TGFB1 NPPA AGT
5 sodium ion transmembrane transport GO:0035725 9.85 SCN5A SCN1B SCN10A HCN4
6 cellular response to mechanical stimulus GO:0071260 9.84 TGFB1 NPPA AGT
7 regulation of blood pressure GO:0008217 9.82 NPPA MYH6 AGT
8 cardiac conduction GO:0061337 9.81 SCN5A SCN1B GJA5 CACNA1C
9 cardiac muscle contraction GO:0060048 9.8 TTN SCN5A SCN1B MYH6
10 regulation of cardiac muscle contraction GO:0055117 9.73 SCN10A HCN4 GJA5 ANK2
11 cardiac muscle cell action potential involved in contraction GO:0086002 9.71 SCN5A SCN1B CACNA1C
12 ventricular cardiac muscle cell action potential GO:0086005 9.71 SNTA1 SCN5A GJA5 ANK2
13 positive regulation of cellular protein metabolic process GO:0032270 9.69 TGFB1 AGT
14 membrane depolarization during action potential GO:0086010 9.69 SCN5A SCN10A
15 cell growth involved in cardiac muscle cell development GO:0061049 9.69 NPPA AGT
16 positive regulation of sodium ion transport GO:0010765 9.68 SCN5A SCN1B
17 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.68 GJA5 CACNA1C
18 cardiac muscle hypertrophy in response to stress GO:0014898 9.68 NPPA MYH6
19 regulation of cardiac muscle cell contraction GO:0086004 9.67 SCN5A ANK2
20 cardiac muscle fiber development GO:0048739 9.67 TTN MYH6
21 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.67 SCN5A SCN1B HCN4 CACNA1C
22 atrial cardiac muscle cell action potential GO:0086014 9.66 SCN5A ANK2
23 atrial septum development GO:0003283 9.66 GJA5 ANK2
24 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.65 RANGRF HCN4
25 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.65 SCN5A GJA5
26 regulation of membrane depolarization GO:0003254 9.65 RANGRF HCN4
27 regulation of sodium ion transmembrane transport GO:1902305 9.65 SNTA1 SCN5A RANGRF
28 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.64 SCN5A NPPA
29 membrane depolarization during AV node cell action potential GO:0086045 9.63 SCN5A CACNA1C
30 regulation of membrane depolarization during cardiac muscle cell action potential GO:1900825 9.63 RANGRF GJA5
31 membrane depolarization during SA node cell action potential GO:0086046 9.63 SCN5A HCN4 ANK2
32 positive regulation of histone H3-K9 trimethylation GO:1900114 9.62 MECP2 LMNA
33 AV node cell action potential GO:0086016 9.62 SCN5A SCN10A
34 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.62 SCN5A SCN1B SCN10A GJA5
35 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.61 SCN5A CACNA1C
36 regulation of atrial cardiac muscle cell action potential GO:0098910 9.6 GJA5 ANK2
37 AV node cell to bundle of His cell communication GO:0086067 9.59 SCN5A GJA5
38 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 9.58 SCN5A SCN1B
39 regulation of bundle of His cell action potential GO:0098905 9.57 RANGRF GJA5
40 bundle of His cell action potential GO:0086043 9.56 SCN5A SCN10A
41 SA node cell action potential GO:0086015 9.56 SCN5A HCN4 GJA5 ANK2
42 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.55 SNTA1 SCN5A SCN1B GJA5 ANK2
43 regulation of heart rate by cardiac conduction GO:0086091 9.43 SCN5A SCN1B HCN4 GJA5 CACNA1C ANK2
44 regulation of heart rate GO:0002027 9.23 SNTA1 SCN5A SCN10A RANGRF MYH6 HCN4

Molecular functions related to Sick Sinus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.76 SCN5A SCN10A HCN4 CACNA1C
2 calmodulin binding GO:0005516 9.72 TTN SNTA1 SCN5A MYH6 CACNA1C
3 voltage-gated ion channel activity GO:0005244 9.65 SCN5A SCN1B SCN10A HCN4 CACNA1C
4 sodium channel regulator activity GO:0017080 9.58 SNTA1 SCN1B RANGRF
5 nitric-oxide synthase binding GO:0050998 9.48 SNTA1 SCN5A
6 sodium channel activity GO:0005272 9.46 SCN5A SCN1B SCN10A HCN4
7 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.43 SCN5A SCN1B
8 voltage-gated sodium channel activity involved in Purkinje myocyte action potential GO:0086062 9.37 SCN5A SCN1B
9 voltage-gated sodium channel activity GO:0005248 9.26 SCN5A SCN1B SCN10A HCN4
10 ion channel binding GO:0044325 9.1 SNTA1 SCN5A SCN1B SCN10A RANGRF ANK2

Sources for Sick Sinus Syndrome

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
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43 MeSH
44 MESH via Orphanet
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50 NDF-RT
53 NINDS
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56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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