PFHB1A
MCID: PRG042
MIFTS: 60

Progressive Familial Heart Block, Type Ia (PFHB1A)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Progressive Familial Heart Block, Type Ia

MalaCards integrated aliases for Progressive Familial Heart Block, Type Ia:

Name: Progressive Familial Heart Block, Type Ia 58
Bundle Branch Block 58 76 30 56 17
Heart Block, Nonprogressive 58 30 13 6
Pfhb1a 58 12 54 76
Progressive Familial Heart Block Type 1a 54 30 6
Hereditary Bundle Branch System Defect 58 76 74
Progressive Familial Heart Block Type Ia 12 76
Progressive Cardiac Conduction Defect 76 38
Lenegre-Lev Disease 58 76
Bundle-Branch Block 45 74
Pfhbia 58 76
Pccd 58 76
Hbbd 58 76
Heart Block, Progressive Familial, Type I; Pfhbi 58
Cardiac Conduction Defect, Progressive; Pccd 58
Hereditary Bundle Branch System Defect; Hbbd 58
Heart Block, Progressive, Familial, Type 1a 41
Heart Block, Progressive Familial, Type I 58
Heart Block Progressive Familial Type 1 54
Progressive Familial Heart Block Type I 76
Cardiac Conduction Defect, Progressive 58
Progressive Familial Heart Block 1a 76
Heart Block, Progressive, Type Ia 58
Conduction Disorder of the Heart 74
Cardiac Conduction Defect 76
Pfhbi 58

Characteristics:

OMIM:

58
Miscellaneous:
sudden death
syncopal episodes
stokes-adams attacks
genetic heterogeneity (see )

Inheritance:
autosomal dominant


HPO:

33
progressive familial heart block, type ia:
Mortality/Aging sudden death
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Progressive Familial Heart Block, Type Ia

OMIM : 58 Progressive familial heart block type I (PFHBI, PFHB1) is an autosomal dominant cardiac bundle branch disorder that may progress to complete heart block (Brink and Torrington, 1977; van der Merwe et al., 1986; van der Merwe et al., 1988). It is defined on electrocardiogram by evidence of bundle branch disease, i.e., right bundle branch block, left anterior or posterior hemiblock, or complete heart block, with broad QRS complexes. Progression has been shown from a normal electrocardiogram to right bundle branch block and from the latter to complete heart block. These electrocardiographic features differentiate PFHB type I from progressive familial heart block type II (PFHBII, PFHB2; 140400), in which the onset of complete heart block is associated with narrow complexes. Electrocardiographically the changes represent, respectively, bundle branch disease (PFHB1) and atrioventricular nodal disease with an atrioventricular block and an idionodal escape rhythm (PFHB2). PFHBI is manifested symptomatically when complete heart block supervenes, either with dyspnea, syncopal episodes, or sudden death. Treatment, which is best managed by regular electrocardiographic follow-up, is by the timely implantation of a pacemaker (Brink et al., 1995). (113900)

MalaCards based summary : Progressive Familial Heart Block, Type Ia, also known as bundle branch block, is related to first-degree atrioventricular block and atrial fibrillation, and has symptoms including dyspnea, chest pain and syncopal episode. An important gene associated with Progressive Familial Heart Block, Type Ia is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Antiarrhythmic Pathway, Pharmacodynamics and NOTCH1 regulation of human endothelial cell calcification. The drugs Lisinopril and Eplerenone have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and kidney, and related phenotypes are sudden cardiac death and dyspnea

Disease Ontology : 12 A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has material basis in mutation in the SCN5A gene on chromosome 3p21.

UniProtKB/Swiss-Prot : 76 Progressive familial heart block 1A: A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death.

Related Diseases for Progressive Familial Heart Block, Type Ia

Diseases in the Heart Block, Congenital family:

Progressive Familial Heart Block, Type Ia Progressive Familial Heart Block, Type Ii
Progressive Familial Heart Block, Type Ib Progressive Familial Heart Block

Diseases related to Progressive Familial Heart Block, Type Ia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 159)
# Related Disease Score Top Affiliating Genes
1 first-degree atrioventricular block 31.0 SCN5A GJA5
2 atrial fibrillation 30.2 SCN5A PLAT GJA5
3 heart disease 30.0 GJA5 PLAT SCN5A
4 progressive familial heart block 29.8 SCN5A GJA5
5 atrial standstill 1 29.5 GJA5 SCN5A
6 sinoatrial node disease 29.4 SCN5A GJA5
7 right bundle branch block 13.0
8 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 12.6
9 bundle branch block, familial isolated complete right 12.5
10 progressive familial heart block, type ib 12.4
11 left bundle branch hemiblock 12.3
12 brugada syndrome 1 12.0
13 familial progressive cardiac conduction defect 12.0
14 wolff-parkinson-white syndrome 11.8
15 brugada syndrome 11.8
16 ventricular fibrillation, paroxysmal familial, 1 11.7
17 kearns-sayre syndrome 11.5
18 arrhythmogenic right ventricular dysplasia, familial, 1 11.3
19 heart-hand syndrome, spanish type 11.3
20 brugada syndrome 2 11.3
21 brugada syndrome 3 11.3
22 brugada syndrome 4 11.3
23 brugada syndrome 5 11.3
24 brugada syndrome 6 11.3
25 brugada syndrome 7 11.3
26 brugada syndrome 8 11.3
27 brugada syndrome 9 11.3
28 atrioventricular block 11.2
29 emery-dreifuss muscular dystrophy 2, autosomal dominant 11.2
30 myocardial infarction 11.2
31 long-thumb brachydactyly syndrome 11.0
32 spondylometaphyseal dysplasia, sedaghatian type 11.0
33 myopathy, x-linked, with postural muscle atrophy 11.0
34 emery-dreifuss muscular dystrophy 1, x-linked 11.0
35 neuropathy, ataxia, and retinitis pigmentosa 11.0
36 emery-dreifuss muscular dystrophy 4, autosomal dominant 11.0
37 emery-dreifuss muscular dystrophy 5, autosomal dominant 11.0
38 emery-dreifuss muscular dystrophy 7, autosomal dominant 11.0
39 emery-dreifuss muscular dystrophy 3, autosomal recessive 11.0
40 leber hereditary optic neuropathy 11.0
41 second-degree atrioventricular block 11.0
42 acute myocardial infarction 11.0
43 rere-related disorders 11.0
44 arteries, anomalies of 10.8
45 coronary artery anomaly 10.8
46 ischemia 10.7
47 dilated cardiomyopathy 10.7
48 distal trisomy 9q 10.6
49 congestive heart failure 10.6
50 syncope 10.6

Comorbidity relations with Progressive Familial Heart Block, Type Ia via Phenotypic Disease Network (PDN): (show all 24)


Acute Cystitis Aortic Valve Disease 1
Bronchitis Cardiac Arrest
Chronic Kidney Failure Chronic Myocardial Ischemia
Deficiency Anemia Familial Atrial Fibrillation
First-Degree Atrioventricular Block Generalized Atherosclerosis
Heart Disease Hypertension, Essential
Intermediate Coronary Syndrome Ischemic Heart Disease
Left Bundle Branch Hemiblock Mitral Valve Disease
Peripheral Vascular Disease Postinflammatory Pulmonary Fibrosis
Respiratory Failure Right Bundle Branch Block
Sinoatrial Node Disease Third-Degree Atrioventricular Block
Transient Cerebral Ischemia Tricuspid Valve Disease

Graphical network of the top 20 diseases related to Progressive Familial Heart Block, Type Ia:



Diseases related to Progressive Familial Heart Block, Type Ia

Symptoms & Phenotypes for Progressive Familial Heart Block, Type Ia

Human phenotypes related to Progressive Familial Heart Block, Type Ia:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 33 HP:0001645
2 dyspnea 33 HP:0002094
3 syncope 33 HP:0001279
4 right bundle branch block 33 HP:0011712
5 left anterior fascicular block 33 HP:0011711
6 complete heart block with broad qrs complexes 33 HP:0005170
7 left posterior fascicular block 33 HP:0005172

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
dyspnea

Cardiovascular Heart:
right bundle branch block
bundle branch disease
left anterior or posterior hemiblock
complete heart block with broad rs complexes

Clinical features from OMIM:

113900

UMLS symptoms related to Progressive Familial Heart Block, Type Ia:


dyspnea, chest pain, syncopal episode

GenomeRNAi Phenotypes related to Progressive Familial Heart Block, Type Ia according to GeneCards Suite gene sharing:

27 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.6 GJA5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.6 GJA5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.6 SCN5A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.6 SCN5A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.6 GJA5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.6 GJA5 SCN5A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.6 GJA5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.6 SCN5A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.6 SCN5A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.6 GJA5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.6 SCN5A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.6 GJA5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.6 SCN5A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.6 GJA5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.6 SCN5A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.6 SCN5A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.6 SCN5A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.6 SCN5A

MGI Mouse Phenotypes related to Progressive Familial Heart Block, Type Ia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 GJA5 PLAT SCN5A

Drugs & Therapeutics for Progressive Familial Heart Block, Type Ia

Drugs for Progressive Familial Heart Block, Type Ia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 239)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
2
Eplerenone Approved Phase 4 107724-20-9 150310 443872
3
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
4
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
5
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
6
Bisoprolol Approved Phase 4 66722-44-9 2405
7
Captopril Approved Phase 4 62571-86-2 44093
8
Enalaprilat Approved Phase 4 76420-72-9 6917719
9
Ramipril Approved Phase 4 87333-19-5 5362129
10
Nebivolol Approved, Investigational Phase 4 118457-14-0, 99200-09-6, 152520-56-4 71301
11
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
12
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
13
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
14
Povidone Approved Phase 4 9003-39-8
15
Iodine Approved, Investigational Phase 4 7553-56-2 807
16
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 2713 9552079
17
Povidone-iodine Approved Phase 4 25655-41-8
18
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
19
Sirolimus Approved, Investigational Phase 4,Phase 3,Not Applicable 53123-88-9 46835353 6436030 5284616
20
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Not Applicable 22916-47-8 4189
21
Valproic Acid Approved, Investigational Phase 4 99-66-1 3121
22
Aripiprazole Approved, Investigational Phase 4,Phase 3 129722-12-9 60795
23
Lithium carbonate Approved Phase 4 554-13-2
24
Dopamine Approved Phase 4,Phase 3 62-31-7, 51-61-6 681
25
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-78-2 2244
26
Everolimus Approved Phase 4,Phase 3,Not Applicable 159351-69-6 6442177 70789204
27
Chromium Approved Phase 4,Phase 3,Not Applicable 7440-47-3 27668
28
Ticagrelor Approved Phase 4 274693-27-5 9871419
29
Clopidogrel Approved Phase 4,Phase 3,Phase 2 120202-66-6, 113665-84-2 60606
30
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
31
Ticlopidine Approved Phase 4,Phase 3 55142-85-3 5472
32
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
33
Amlodipine Approved Phase 4 88150-42-9 2162
34
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
35
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 4 8001-79-4
36
Calcium Approved, Nutraceutical Phase 4,Phase 1,Phase 2 7440-70-2 271
37
Candesartan Experimental Phase 4 139481-59-7 2541
38
Imidacloprid Vet_approved Phase 4 105827-78-9 86418
39 Adrenergic Antagonists Phase 4
40 Adrenergic beta-Antagonists Phase 4
41 Angiotensin Receptor Antagonists Phase 4
42 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2
43 Mineralocorticoids Phase 4
44 Hormones Phase 4,Phase 3,Phase 2
45 Natriuretic Agents Phase 4,Phase 3,Not Applicable
46
protease inhibitors Phase 4,Phase 3,Phase 2
47 Mineralocorticoid Receptor Antagonists Phase 4
48 Angiotensin-Converting Enzyme Inhibitors Phase 4
49 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
50 Hormone Antagonists Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 132)
# 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 Resynchronization in Paced Heart Failure Patients With Implantable Cardioverter Defibrillator (ICD) Indication Unknown status NCT01415024 Phase 4
3 Systematic Withdrawal of Neurohumoral Blocker Therapy in Optimally Responding CRT Patients Unknown status NCT02200822 Phase 4 beta blockers;RAAS blockers
4 Effect of Cardiac Resynchronization Therapy (CRT) on Skeletal Muscle Histology, Neuroendocrine Activation and Inflammatory Response Completed NCT01019915 Phase 4
5 High-sensitivity Troponin in Cardiac Surgery Completed NCT01913873 Phase 4
6 Comparison of Alcoholic Chlorhexidine 2% Versus Alcoholic Povidone Iodine for Infections Prevention With Cardiac Resynchronization Therapy Device Implantation Recruiting NCT01841242 Phase 4 alcoholic povidone iodine;alcoholic chlorhexidine
7 Cardiac Sarcoidosis Response To Steroids Trial Withdrawn NCT01210677 Phase 4 Prednisone
8 PCI With AXXESS Biolimus A9 Eluting Bifurcation Stent in Treating Coronary Artery Bifurcation Disease Withdrawn NCT02384629 Phase 4
9 A Study of Aripiprazole (Abilify) in Patients With Bipolar Mania Completed NCT00261443 Phase 4 Lithium or Valproate with placebo (PBO);Lithium or Valproate with Aripiprazole
10 PROMUS Element Plus US Post-Approval Study Completed NCT01589978 Phase 4 Aspirin;P2Y12 antagonist
11 A Phase IV Study of the Safety and Efficacy of Aripiprazole in Combination With Lamotrigine in the Long-Term Maintenance Treatment of Patients With Bipolar I Disorder With A Recent Manic or Mixed Episode Completed NCT00277212 Phase 4 Lamotrigine + Aripiprazole;Lamotrigine + Placebo
12 Intervention for High-normal or Borderline-elevated Blood Pressure in Adults With Type 2 Diabetes Not yet recruiting NCT03264352 Phase 4 Allisartan Isoproxil;Amlodipine 5mg;Hydrochlorothiazide 25 mg;Allisartan Isoproxil placebo;Amlodipine placebo;Hydrochlorothiazide placebo
13 Minimally Invasive Transthoracic Device Closure in Perimembranous Ventricular Septal Defect Unknown status NCT02644330 Phase 2, Phase 3
14 BENEFIT: Evaluation of the Use of Antiparasital Drug (Benznidazole) in the Treatment of Chronic Chagas' Disease Unknown status NCT00123916 Phase 3 Benznidazole;Placebo
15 MADIT ASIA Cardiac Resynchronization Trial Terminated NCT01872234 Phase 3
16 Melatonin and Cardiac Outcome After Major Surgery Completed NCT00315926 Phase 2, Phase 3 Melatonin;Placebo
17 Levosimendan in Patients With Left Ventricular Systolic Dysfunction Undergoing Cardiac Surgery On Cardiopulmonary Bypass Completed NCT02025621 Phase 3 Levosimendan;Placebo
18 Effects of Titrated Oral Tolvaptan 15-60 mg Once Daily (QD) on Cognitive and Neurological Function in Elderly Hyponatremic Patients Completed NCT00550459 Phase 3 Tolvaptan;Placebo
19 The PLATINUM Clinical Trial to Assess the PROMUS Element Stent System for Treatment of De Novo Coronary Artery Lesions Completed NCT00823212 Phase 3 Aspirin;Thienopyridine
20 The PLATINUM Clinical Trial to Assess the PROMUS Element Stent System for Treatment of Long De Novo Coronary Artery Lesions (PLATINUM LL) Completed NCT01500434 Phase 3 Aspirin;Thienopyridine
21 Etiologic Treatment With Benznidazole in Adult Patients With Chronic Chagas Disease. A Randomized Clinical Trial Completed NCT02386358 Phase 3 Benznidazole;Placebo
22 Aripiprazole for Schizophrenia Outpatients Completing BMS Clinical Trials Completed NCT00239356 Phase 3 Aripiprazole
23 PROMUS Element Japan Small Vessel Trial Completed NCT01080261 Phase 3
24 A Prospective, Multi-center Trial to Assess an Everolimus-Eluting Coronary Stent System (PROMUS Element™) Completed NCT00824434 Phase 3
25 Study to Assess the Effect of Treatment With Bendamustine in Combination With Rituximab on QT Interval in Patients With Advanced Indolent Non-Hodgkin's Lymphoma (NHL) or Mantle Cell Lymphoma (MCL) Completed NCT01073163 Phase 3 Bendamustine;Rituximab
26 PLATINUM Trial to Assess the PROMUS Element Stent System for Treatment of De Novo Coronary Artery Lesions-Pharmacokinetics (PLATINUM PK) Completed NCT01510327 Phase 3 Aspirin;Thienopyridine
27 Phase III Acute Coronary Syndrome Terminated NCT00831441 Phase 3 Apixaban;Placebo
28 Long-term Safety Study for GSK573719 in Japanese Completed NCT01702363 Phase 3 GSK573719
29 Long-term Safety Study for GSK573719/GW642444 in Japanese Completed NCT01376388 Phase 3 GSK573719/GW642444 Inhalation Powder
30 Oral Aripiprazole Open-Label Rollover Study Completed NCT01001702 Phase 3 Aripiprazole
31 Prophylactic Topical Epinephrine to Reduce Bleeding in Transbronchial Lung Biopsies Recruiting NCT03126968 Phase 2, Phase 3 Topical epinephrine;Placebos
32 Cardio‑Safety of Dihydroartemisinin‑Piperaquine and Pharmacokinetics of Piperaquine Amongst Pregnant Women in Tanzania Unknown status NCT02909712 Phase 2 sulfadoxine-pyrimethamine (SP);dihydroartemisinin-piperaquine (DHA-PQP)
33 Adenosine as an Adjunct to Blood Cardioplegia Unknown status NCT02681913 Phase 2 Adenosine
34 The Effects of Different Clonidine Concentrations on Axillary Brachial Plexus Block With 1,5% Lidocaine Completed NCT01620112 Phase 2 high Clonidine concentration;low clonidine concentration;Lidocaine;Lidocaine 40 ml
35 Washington Study of Hemofiltration After Out-of-Hospital Cardiac Arrest Completed NCT01509040 Phase 1, Phase 2
36 Antifibrotic Activity Of GI262570 In Chronic Hepatitis C Subjects Completed NCT00244751 Phase 2 GI262570 0.5 mg;GI262570 1.0 mg;Placebo
37 4 Week Switch Study in Hemodialysis-dependent Subjects With Anemia Associated With Chronic Kidney Disease Completed NCT01587924 Phase 2 GSK1278863;rhEPO
38 Study to Investigate the Effects of Orteronel on the QT/QTc Interval in Patients With Metastatic Castration-Resistant Prostate Cancer Completed NCT01549951 Phase 2 Orteronel+Prednisone
39 An Investigation Of The Interaction Of GSK961081 With Inhaled Beta-Agonist And Anti-Muscarinic Drugs. Completed NCT00674817 Phase 2 400 microgrammes GSK961081;1200 microgrammes GSK961081
40 Apixaban After Anticoagulation-associated Intracerebral Haemorrhage in Patients With Atrial Fibrillation Recruiting NCT02565693 Phase 2 Apixaban;Aspirin;Carbasalate calcium;Clopidogrel;Dipyridamole
41 A Long-Term, Placebo-Controlled X-Ray Study Investigating the Safety and Efficacy of SD-6010 in Subjects With Osteoarthritis of the Knee Completed NCT00565812 Phase 2 SD-6010;SD-6010;Placebo
42 The Effect of Buprenorphine Delivered by Buprenorphine Transdermal System (BTDS) at Doses up to 80 Micrograms/Hour (mcg/hr) and Naltrexone on Electrocardiogram (ECG) Intervals in Healthy Volunteers Completed NCT01999114 Phase 1 Buprenorphine transdermal patch;Naltrexone tablet;Placebos (for TDS and for naltrexone and for moxifloxacin);Moxifloxacin tablet
43 Trial to Evaluate the Effects of OPC-34712 on QT/QTc in Subjects With Schizophrenia or Schizoaffective Disorder Completed NCT01423916 Phase 1 OPC-34712 (4mg);Moxifloxacin;OPC-34712 (12mg);Placebo
44 Study to Assess the Effect of Macitentan on the Electrocardiogram (ECG) in Healthy Male and Female Subjects Completed NCT02050802 Phase 1 Moxifloxacin 400 mg;Macitentan 10 mg;Macitentan 30 mg
45 Congenital or Idiopathic Complete Right Bundle Branch Block: Physiological Significance and Molecular Characterization Unknown status NCT00173342
46 Management of Acute Myocardial Infarction in the Presence of Left Bundle Branch Block Unknown status NCT01494870 Not Applicable
47 HV Electrophysiology Study In Transcatheter Aortic Valve Implantation Patients Unknown status NCT02659137
48 Selective Coronary Vein Sampling in Left Bundle Branch Block and CRT Unknown status NCT02396875 Not Applicable
49 Cohort Description of Younger With AV-block Unknown status NCT03024047
50 Left Ventricular Function and Remodelling During Permanent Pacing Unknown status NCT00228241 Not Applicable

Search NIH Clinical Center for Progressive Familial Heart Block, Type Ia

Cochrane evidence based reviews: bundle-branch block

Genetic Tests for Progressive Familial Heart Block, Type Ia

Genetic tests related to Progressive Familial Heart Block, Type Ia:

# Genetic test Affiliating Genes
1 Progressive Familial Heart Block Type 1a 30 SCN5A
2 Heart Block, Nonprogressive 30
3 Bundle Branch Block 30

Anatomical Context for Progressive Familial Heart Block, Type Ia

MalaCards organs/tissues related to Progressive Familial Heart Block, Type Ia:

42
Heart, Testes, Kidney, Lung, Liver, Bone, Skeletal Muscle

Publications for Progressive Familial Heart Block, Type Ia

Articles related to Progressive Familial Heart Block, Type Ia:

(show top 50) (show all 2542)
# Title Authors Year
1
Transient left bundle branch block and left ventricular dysfunction in a patient with NLRP1-associated autoinflammation with arthritis and dyskeratosis syndrome. ( 30681047 )
2019
2
Left bundle branch block in dilated cardiomyopathy with intermediate left ventricular dysfunction: Clinical phenotyping and outcome correlates. ( 30416030 )
2019
3
Impact of left bundle branch block (LBBB) in dilated cardiomyopathy (DCM) with intermediate left ventricular systolic dysfunction (LVSD). ( 30594346 )
2019
4
Apparent ST elevation in right bundle branch block pseudo-mimicking myocardial infarction. ( 30783529 )
2019
5
Heart rate variability is impaired in adults after closure of ventricular septal defect in childhood: A novel finding associated with right bundle branch block. ( 30454724 )
2019
6
Recruitment of Complete Right Bundle Branch Block by Permanent Para-Hisian Pacing. ( 30464132 )
2019
7
Atypical ischemic repolarization in right bundle branch block. ( 30553984 )
2019
8
Brugada electrocardiogram pattern and right bundle branch block. ( 30879054 )
2019
9
Brugada electrocardiogram pattern and right bundle branch block: Authors' reply. ( 30879068 )
2019
10
Association between T-wave discordance and the development of heart failure in left bundle branch block patients: Results from the Copenhagen ECG study. ( 30476637 )
2019
11
Prognostic impact of bundle branch block after acute coronary syndrome. Does it matter if it is left of right? ( 30555891 )
2019
12
Cardiac Resynchronization Therapy Reverses Severe Dyspnea Associated with Acceleration-dependent Left Bundle Branch Block in a Patient with Structurally Normal Heart. ( 30614115 )
2019
13
Corrigendum to "Wieslander, et al., Ejection fraction in left bundle branch block is disproportionately reduced in relation to amount of myocardial scar" [J Electrocardiol 51(2018) 1071-1076]. ( 30661715 )
2019
14
Large variability in clinical judgement and definitions of left bundle branch block to identify candidates for cardiac resynchronisation therapy. ( 30661850 )
2019
15
Association of left bundle branch block with new onset abnormal wall motion in treated hypertensive patients with left ventricle hypertrophy: the LIFE Echo Sub-study. ( 30698038 )
2019
16
Intracardiac Delineation of Septal Conduction in Left Bundle Branch Block Patterns: Mechanistic Evidence of Left Intra-Hisian Block Circumvented by His Pacing. ( 30704273 )
2019
17
A wide QRS tachycardia followed by alternating bundle branch block. ( 30712648 )
2019
18
Low Lead One Ratio Predicts Clinical Outcomes in Left Bundle Branch Block. ( 30740823 )
2019
19
Left bundle branch block after transcatheter aortic valve implantation with Edwards Sapien 3 valve: Influence of the valve depth implantation. ( 30745060 )
2019
20
Mechanism of Abnormal Septal Motion in Left Bundle Branch Block: Role of Left Ventricular Wall Interactions and Myocardial Scar. ( 30772230 )
2019
21
Predicting response to cardiac resynchronization therapy: use of strict left bundle branch block criteria. ( 30779177 )
2019
22
An interesting case of wide QRS tachycardia with left bundle branch block morphology. ( 30789081 )
2019
23
Differential effect of regadenoson versus dipyridamole on heart rate in patients with left bundle branch block: How does it affect the results of pharmacological nuclear stress testing? ( 30792855 )
2019
24
True left bundle branch block and long-term mortality in cardiac resynchronisation therapy patients. ( 30799545 )
2019
25
Automatic diagnosis of strict left bundle branch block using a wavelet-based approach. ( 30802276 )
2019
26
True complete left bundle branch block reveals dyssynchrony evaluated by semiconductor single-photon emission computed tomography. ( 30805046 )
2019
27
Influence of Left Bundle Branch Block on the Electrocardiographic Changes Induced by Acute Coronary Artery Occlusion of Distinct Location and Duration. ( 30809155 )
2019
28
Recurrent transient episodes of left bundle branch block immediately following surgery - A rare phenomenon. ( 30814759 )
2019
29
Initial experience with regadenoson stress positron emission tomography in patients with left bundle branch block: Low prevalence of septal defects and high accuracy for obstructive coronary artery disease. ( 30877551 )
2019
30
Transient left bundle branch block due to massive increase of His bundle pacing threshold associated with acute heart failure in a patient with complete heart block. ( 30891411 )
2019
31
Postsystolic index for distinguishing coronary artery disease in left bundle branch block. ( 30901114 )
2019
32
A single lead of concordant ST deviation in Left Bundle Branch Block. ( 30902168 )
2019
33
Intermittent Left Bundle Branch Block: What Is the Mechanism? ( 30907486 )
2019
34
Left bundle branch block: Epidemiology, etiology, anatomic features, electrovectorcardiography, and classification proposal. ( 29932265 )
2019
35
Acute biventricular hemodynamic effects of cardiac resynchronization therapy in right bundle branch block. ( 29800750 )
2018
36
A wide complex tachycardia with atypical right bundle branch block QRS morphology: What is the mechanism? ( 29727501 )
2018
37
Clinical characteristics and value in early reperfusion therapy for new onset right bundle branch block in patients with acute myocardial infarction. ( 29467855 )
2018
38
An interesting case of narrow QRS tachycardia with incomplete right bundle branch block morphology: What is the mechanism? ( 29683541 )
2018
39
Prognostic value of new-onset right bundle-branch block in acute myocardial infarction patients: a systematic review and meta-analysis. ( 29576967 )
2018
40
Persistent ventricular preexcitation despite right bundle branch block. ( 29407483 )
2018
41
Utility of incomplete right bundle branch block as an isolated ECG finding in children undergoing initial cardiac evaluation. ( 29431296 )
2018
42
R-Wave Peak Time at Lead II in Adults With Ventricular Premature Beats, Bundle Branch Block and Left Anterior Fascicular Block. ( 29289261 )
2018
43
An interesting case of wide QRS tachycardia with right bundle branch block morphology: What is the mechanism? ( 29781518 )
2018
44
Right bundle branch block and conduction disturbances in Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy. ( 29804172 )
2018
45
A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction. ( 29349559 )
2018
46
Wide QRS tachycardia with right bundle branch block QRS morphology that is almost identical to that during sinus rhythm: What is the mechanism? ( 29676823 )
2018
47
Pseudo-Wellens' syndrome and intermittent left bundle branch block in acute cholecystitis. ( 29661666 )
2018
48
Prognostic impact of right bundle branch block in hospitalized patients with idiopathic dilated cardiomyopathy: a single-center cohort study. ( 30318986 )
2018
49
Intermittent right bundle branch block in a child with familial mediterranean fever. ( 30600838 )
2018
50
Elevated troponin and left bundle branch block in the setting of suspected septicemia and demand ischemia: to treat or not to treat. ( 30090218 )
2018

Variations for Progressive Familial Heart Block, Type Ia

UniProtKB/Swiss-Prot genetic disease variations for Progressive Familial Heart Block, Type Ia:

76
# Symbol AA change Variation ID SNP ID
1 SCN5A p.Gly298Ser VAR_017671 rs137854608
2 SCN5A p.Gly514Cys VAR_017673 rs137854606
3 SCN5A p.Arg1232Trp VAR_017679 rs199473207
4 SCN5A p.Asp1595Asn VAR_017683 rs137854607
5 SCN5A p.Glu161Lys VAR_026344 rs199473062
6 SCN5A p.Gly752Arg VAR_026361 rs199473153
7 SCN5A p.Asp1275Asn VAR_026373 rs137854618
8 SCN5A p.Thr512Ile VAR_036662 rs199473118
9 SCN5A p.Arg225Trp VAR_055164 rs199473072
10 SCN5A p.Thr1620Lys VAR_055201 rs199473282

ClinVar genetic disease variations for Progressive Familial Heart Block, Type Ia:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN5A NM_198056.2(SCN5A): c.3963+2T> C single nucleotide variant Pathogenic rs397514447 GRCh37 Chromosome 3, 38603904: 38603904
2 SCN5A NM_198056.2(SCN5A): c.3963+2T> C single nucleotide variant Pathogenic rs397514447 GRCh38 Chromosome 3, 38562413: 38562413
3 SCN5A NM_198056.2(SCN5A): c.5131delG (p.Ala1711Profs) deletion Pathogenic rs397514448 GRCh37 Chromosome 3, 38592732: 38592732
4 SCN5A NM_198056.2(SCN5A): c.5131delG (p.Ala1711Profs) deletion Pathogenic rs397514448 GRCh38 Chromosome 3, 38551241: 38551241
5 SCN5A NM_198056.2(SCN5A): c.4783G> A (p.Asp1595Asn) single nucleotide variant Pathogenic/Likely pathogenic rs137854607 GRCh37 Chromosome 3, 38595800: 38595800
6 SCN5A NM_198056.2(SCN5A): c.4783G> A (p.Asp1595Asn) single nucleotide variant Pathogenic/Likely pathogenic rs137854607 GRCh38 Chromosome 3, 38554309: 38554309
7 SCN5A NM_001099404.1(SCN5A): c.892G> A (p.Gly298Ser) single nucleotide variant Uncertain significance rs137854608 GRCh37 Chromosome 3, 38651267: 38651267
8 SCN5A NM_001099404.1(SCN5A): c.892G> A (p.Gly298Ser) single nucleotide variant Uncertain significance rs137854608 GRCh38 Chromosome 3, 38609776: 38609776
9 SCN5A NM_198056.2(SCN5A): c.1535C> T (p.Thr512Ile) single nucleotide variant Uncertain significance rs199473118 GRCh37 Chromosome 3, 38645558: 38645558
10 SCN5A NM_198056.2(SCN5A): c.1535C> T (p.Thr512Ile) single nucleotide variant Uncertain significance rs199473118 GRCh38 Chromosome 3, 38604067: 38604067
11 SCN5A NM_198056.2(SCN5A): c.1673A> G (p.His558Arg) single nucleotide variant Benign/Likely benign rs1805124 GRCh37 Chromosome 3, 38645420: 38645420
12 SCN5A NM_198056.2(SCN5A): c.1673A> G (p.His558Arg) single nucleotide variant Benign/Likely benign rs1805124 GRCh38 Chromosome 3, 38603929: 38603929
13 SCN5A NM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473119 GRCh37 Chromosome 3, 38645526: 38645526
14 SCN5A NM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473119 GRCh38 Chromosome 3, 38604035: 38604035
15 RYR2 NM_001035.2(RYR2): c.5416G> A (p.Ala1806Thr) single nucleotide variant Uncertain significance rs767728159 GRCh38 Chromosome 1, 237614544: 237614544
16 RYR2 NM_001035.2(RYR2): c.5416G> A (p.Ala1806Thr) single nucleotide variant Uncertain significance rs767728159 GRCh37 Chromosome 1, 237777844: 237777844

Expression for Progressive Familial Heart Block, Type Ia

Search GEO for disease gene expression data for Progressive Familial Heart Block, Type Ia.

Pathways for Progressive Familial Heart Block, Type Ia

Pathways related to Progressive Familial Heart Block, Type Ia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.7 GJA5 SCN5A
2 9.88 GJA5 PLAT

GO Terms for Progressive Familial Heart Block, Type Ia

Cellular components related to Progressive Familial Heart Block, Type Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 8.62 GJA5 SCN5A

Biological processes related to Progressive Familial Heart Block, Type Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of heart rate by cardiac conduction GO:0086091 9.4 GJA5 SCN5A
2 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.37 GJA5 SCN5A
3 ventricular cardiac muscle cell action potential GO:0086005 9.32 GJA5 SCN5A
4 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.26 GJA5 SCN5A
5 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.16 GJA5 SCN5A
6 SA node cell action potential GO:0086015 8.96 GJA5 SCN5A
7 AV node cell to bundle of His cell communication GO:0086067 8.62 GJA5 SCN5A

Sources for Progressive Familial Heart Block, Type Ia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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