Details of Disease

General Information of Disease (ID: DIS8YLE6)

• Disease Name: Atrioventricular block
• Synonyms: atrioventricular block (disease); atrioventricular block; AVB; AV nodal block; AV block
• Definition: A heart block that is initiated in the atrioventricular node.
• Disease Hierarchy:
  DISLKUNL: Heart arrhythmia
  DIS3N5H4: Atrioventricular dissociation
  DISMT2VZ: Cardiogenetic disease
  DIS8YLE6: Atrioventricular block
• Disease Identifiers:
  MONDO ID: MONDO_0000465
  MESH ID: D054537
  UMLS CUI: C0004245
  MedGen ID: 13956
  HPO ID: HP:0001678
  SNOMED CT ID: 233917008

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Isoproterenol	DMK7MEY	Approved	Small molecular drug	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SCN5A	TTZOVE0	Limited	Genetic Variation	[2]
KCNH2	TTQ6VDM	moderate	Biomarker	[3]
GJC1	TTEP7OC	Strong	Genetic Variation	[4]
HCN4	TTQP04A	Strong	Genetic Variation	[5]
KCNQ1	TT846HF	Strong	Genetic Variation	[6]
SCN10A	TT90XZ8	Strong	Biomarker	[7]
TDP2	TTYF26D	Strong	Biomarker	[8]
TRPM4	TTJ2HKA	Strong	Genetic Variation	[9]

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NKX2-5	OTS1SAWM	Limited	Genetic Variation	[10]
GNAI2	OTTLGRGH	moderate	Biomarker	[11]
ARFGEF1	OTPAU0L4	Strong	Biomarker	[12]
ARID2	OTIRJXWM	Strong	Biomarker	[12]
ARSD	OTAHW9M8	Strong	Biomarker	[13]
DES	OTI09KBW	Strong	Autosomal dominant	[14]
GNB2	OT3JPRCQ	Strong	Genetic Variation	[15]
LMNA	OT3SG7ZR	Strong	Autosomal dominant	[14]
PRKAG2	OTHTAM54	Strong	Genetic Variation	[16]
SSB	OTCCTPBR	Strong	Biomarker	[17]
TBX5	OT70PISV	Strong	Genetic Variation	[18]
TBX6	OTW1Q8RM	Strong	Biomarker	[19]
TRIM21	OTA4UJCF	Strong	Biomarker	[20]
TTN	OT0LZ058	Strong	Genetic Variation	[21]

References

• [1] Isoproterenol FDA Label
• [2] A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation.Heart Rhythm. 2014 Jun;11(6):1015-1023. doi: 10.1016/j.hrthm.2014.02.021. Epub 2014 Feb 25.
• [3] Determinants of cardiac repolarization and risk for ventricular arrhythmias during mild therapeutic hypothermia.J Crit Care. 2018 Aug;46:151-156. doi: 10.1016/j.jcrc.2018.03.014.
• [4] Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.J Am Coll Cardiol. 2017 Jul 18;70(3):358-370. doi: 10.1016/j.jacc.2017.05.039.
• [5] A novel HCN4 mutation, G1097W, is associated with atrioventricular block.Circ J. 2014;78(4):938-42. doi: 10.1253/circj.cj-13-0996. Epub 2014 Jan 31.
• [6] Fetal atrioventricular block and postpartum augmentative QT prolongation in a patient with long-QT syndrome with KCNQ1 mutation.J Cardiovasc Electrophysiol. 2010 Oct;21(10):1170-3. doi: 10.1111/j.1540-8167.2010.01758.x.
• [7] Several common variants modulate heart rate, PR interval and QRS duration.Nat Genet. 2010 Feb;42(2):117-22. doi: 10.1038/ng.511. Epub 2010 Jan 10.
• [8] The beginnings of long QT syndrome.Curr Opin Cardiol. 2015 Jan;30(1):112-7. doi: 10.1097/HCO.0000000000000135.
• [9] Variants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular Block.J Am Heart Assoc. 2016 May 20;5(5):e001625. doi: 10.1161/JAHA.114.001625.
• [10] Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death.Circ Genom Precis Med. 2018 Aug;11(8):e002151. doi: 10.1161/CIRCGEN.117.002151.
• [11] Endogenous RGS proteins modulate SA and AV nodal functions in isolated heart: implications for sick sinus syndrome and AV block.Am J Physiol Heart Circ Physiol. 2007 May;292(5):H2532-9. doi: 10.1152/ajpheart.01391.2006. Epub 2007 Feb 2.
• [12] Ro/SSA autoantibodies directly bind cardiomyocytes, disturb calcium homeostasis, and mediate congenital heart block.J Exp Med. 2005 Jan 3;201(1):11-7. doi: 10.1084/jem.20041859.
• [13] NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.Sci Rep. 2015 Mar 6;5:8848. doi: 10.1038/srep08848.
• [14] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [15] Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features. Eur J Med Genet. 2020 Apr;63(4):103804. doi: 10.1016/j.ejmg.2019.103804. Epub 2019 Nov 4.
• [16] CRISPR correction of the PRKAG2 gene mutation in the patient's induced pluripotent stem cell-derived cardiomyocytes eliminates electrophysiological and structural abnormalities.Heart Rhythm. 2018 Feb;15(2):267-276. doi: 10.1016/j.hrthm.2017.09.024. Epub 2017 Sep 14.
• [17] An expanded phenotype of maternal SSA/SSB antibody-associated fetal cardiac disease.J Matern Fetal Neonatal Med. 2009 Mar;22(3):233-8. doi: 10.1080/14767050802488220.
• [18] SNP rs3825214 in TBX5 is associated with lone atrial fibrillation in Chinese Han population.PLoS One. 2013 May 24;8(5):e64966. doi: 10.1371/journal.pone.0064966. Print 2013.
• [19] Arrhythmias and conduction disorders associated with atrial septal defects.J Thorac Dis. 2018 Sep;10(Suppl 24):S2940-S2944. doi: 10.21037/jtd.2018.08.27.
• [20] Factors influencing fetal cardiac conduction in anti-Ro/SSA-positive pregnancies.Rheumatology (Oxford). 2017 Oct 1;56(10):1755-1762. doi: 10.1093/rheumatology/kex263.
• [21] Novel missense variant in TTN cosegregating with familial atrioventricular block.Eur J Med Genet. 2020 Mar;63(3):103752. doi: 10.1016/j.ejmg.2019.103752. Epub 2019 Aug 27.