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Congenital heart block

MedGen UID:
57432
Concept ID:
C0149530
Congenital Abnormality; Disease or Syndrome
Synonyms: Congenital complete heart block; Familial congenital heart block; Heart Block, Congenital
SNOMED CT: Congenital heart block (46619002)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0009326
OMIM®: 234700
Orphanet: ORPHA60041

Definition

Congenital heart block (CHB) is a rare disorder of atrioventricular conduction, characterized by absence of conduction of atrial impulses to the ventricles with slower ventricular rhythm (atrioventricular dissociation). CHB can occur in association with immunological evidence of maternal connective disease (autoimmune CHD), fetal structural CHD or can be idiopathic. [from ORDO]

Clinical features

From HPO
Atrioventricular block
MedGen UID:
13956
Concept ID:
C0004245
Disease or Syndrome
Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Atrial arrhythmia
MedGen UID:
39317
Concept ID:
C0085611
Pathologic Function
A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.
Myocardial fibrosis
MedGen UID:
56239
Concept ID:
C0151654
Pathologic Function
Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Myocardial calcification
MedGen UID:
202115
Concept ID:
C1096561
Pathologic Function
Calcium deposition in the myocardium.
Absent atrioventricular node
MedGen UID:
870558
Concept ID:
C4025006
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital heart block
Follow this link to review classifications for Congenital heart block in Orphanet.

Professional guidelines

PubMed

Flowers ME, Garber K, Temples HS
J Pediatr Health Care 2023 Sep-Oct;37(5):478-483. Epub 2023 Apr 6 doi: 10.1016/j.pedhc.2023.03.001. PMID: 37031100
Strasburger JF, Eckstein G, Butler M, Noffke P, Wacker-Gussmann A
J Clin Pharmacol 2022 Sep;62 Suppl 1(Suppl 1):S53-S66. doi: 10.1002/jcph.2129. PMID: 36106782Free PMC Article
Pruetz JD, Miller JC, Loeb GE, Silka MJ, Bar-Cohen Y, Chmait RH
Birth Defects Res 2019 May 1;111(8):380-388. Epub 2019 Mar 1 doi: 10.1002/bdr2.1459. PMID: 30821931Free PMC Article

Recent clinical studies

Etiology

Steinberg L
Cardiol Clin 2023 Aug;41(3):399-410. doi: 10.1016/j.ccl.2023.03.002. PMID: 37321690
Steinberg L
Card Electrophysiol Clin 2021 Dec;13(4):691-702. doi: 10.1016/j.ccep.2021.07.006. PMID: 34689896
Izmirly P, Kim M, Friedman DM, Costedoat-Chalumeau N, Clancy R, Copel JA, Phoon CKL, Cuneo BF, Cohen RE, Robins K, Masson M, Wainwright BJ, Zahr N, Saxena A, Buyon JP
J Am Coll Cardiol 2020 Jul 21;76(3):292-302. doi: 10.1016/j.jacc.2020.05.045. PMID: 32674792Free PMC Article
Petri M
Best Pract Res Clin Obstet Gynaecol 2020 Apr;64:24-30. Epub 2019 Oct 8 doi: 10.1016/j.bpobgyn.2019.09.002. PMID: 31677989
Miner JJ, Kim AH
Rheum Dis Clin North Am 2014 Feb;40(1):51-60. doi: 10.1016/j.rdc.2013.10.003. PMID: 24268009

Diagnosis

Steinberg L
Cardiol Clin 2023 Aug;41(3):399-410. doi: 10.1016/j.ccl.2023.03.002. PMID: 37321690
Strasburger JF, Eckstein G, Butler M, Noffke P, Wacker-Gussmann A
J Clin Pharmacol 2022 Sep;62 Suppl 1(Suppl 1):S53-S66. doi: 10.1002/jcph.2129. PMID: 36106782Free PMC Article
Steinberg L
Card Electrophysiol Clin 2021 Dec;13(4):691-702. doi: 10.1016/j.ccep.2021.07.006. PMID: 34689896
Derdulska JM, Rudnicka L, Szykut-Badaczewska A, Mehrholz D, Nowicki RJ, Barańska-Rybak W, Wilkowska A
J Perinat Med 2021 Jun 25;49(5):529-538. Epub 2021 Jan 18 doi: 10.1515/jpm-2020-0543. PMID: 33470961
Carvalho JS
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:28-41. Epub 2019 Jan 9 doi: 10.1016/j.bpobgyn.2019.01.002. PMID: 30738635

Therapy

Izmirly P, Kim M, Friedman DM, Costedoat-Chalumeau N, Clancy R, Copel JA, Phoon CKL, Cuneo BF, Cohen RE, Robins K, Masson M, Wainwright BJ, Zahr N, Saxena A, Buyon JP
J Am Coll Cardiol 2020 Jul 21;76(3):292-302. doi: 10.1016/j.jacc.2020.05.045. PMID: 32674792Free PMC Article
Petri M
Best Pract Res Clin Obstet Gynaecol 2020 Apr;64:24-30. Epub 2019 Oct 8 doi: 10.1016/j.bpobgyn.2019.09.002. PMID: 31677989
Manolis AA, Manolis TA, Melita H, Manolis AS
Trends Cardiovasc Med 2020 Jul;30(5):275-286. Epub 2019 Jun 20 doi: 10.1016/j.tcm.2019.06.006. PMID: 31262557
Carvalho JS
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:28-41. Epub 2019 Jan 9 doi: 10.1016/j.bpobgyn.2019.01.002. PMID: 30738635
Saxena A, Izmirly PM, Mendez B, Buyon JP, Friedman DM
Cardiol Rev 2014 Nov-Dec;22(6):263-7. doi: 10.1097/CRD.0000000000000026. PMID: 25050975Free PMC Article

Prognosis

Strasburger JF, Eckstein G, Butler M, Noffke P, Wacker-Gussmann A
J Clin Pharmacol 2022 Sep;62 Suppl 1(Suppl 1):S53-S66. doi: 10.1002/jcph.2129. PMID: 36106782Free PMC Article
Derdulska JM, Rudnicka L, Szykut-Badaczewska A, Mehrholz D, Nowicki RJ, Barańska-Rybak W, Wilkowska A
J Perinat Med 2021 Jun 25;49(5):529-538. Epub 2021 Jan 18 doi: 10.1515/jpm-2020-0543. PMID: 33470961
Izmirly P, Kim M, Friedman DM, Costedoat-Chalumeau N, Clancy R, Copel JA, Phoon CKL, Cuneo BF, Cohen RE, Robins K, Masson M, Wainwright BJ, Zahr N, Saxena A, Buyon JP
J Am Coll Cardiol 2020 Jul 21;76(3):292-302. doi: 10.1016/j.jacc.2020.05.045. PMID: 32674792Free PMC Article
Petri M
Best Pract Res Clin Obstet Gynaecol 2020 Apr;64:24-30. Epub 2019 Oct 8 doi: 10.1016/j.bpobgyn.2019.09.002. PMID: 31677989
Miner JJ, Kim AH
Rheum Dis Clin North Am 2014 Feb;40(1):51-60. doi: 10.1016/j.rdc.2013.10.003. PMID: 24268009

Clinical prediction guides

Strasburger JF, Eckstein G, Butler M, Noffke P, Wacker-Gussmann A
J Clin Pharmacol 2022 Sep;62 Suppl 1(Suppl 1):S53-S66. doi: 10.1002/jcph.2129. PMID: 36106782Free PMC Article
Wainwright B, Bhan R, Trad C, Cohen R, Saxena A, Buyon J, Izmirly P
Best Pract Res Clin Obstet Gynaecol 2020 Apr;64:41-51. Epub 2019 Oct 8 doi: 10.1016/j.bpobgyn.2019.09.001. PMID: 31685414
Petri M
Best Pract Res Clin Obstet Gynaecol 2020 Apr;64:24-30. Epub 2019 Oct 8 doi: 10.1016/j.bpobgyn.2019.09.002. PMID: 31677989
Manolis AA, Manolis TA, Melita H, Manolis AS
Trends Cardiovasc Med 2020 Jul;30(5):275-286. Epub 2019 Jun 20 doi: 10.1016/j.tcm.2019.06.006. PMID: 31262557
Miner JJ, Kim AH
Rheum Dis Clin North Am 2014 Feb;40(1):51-60. doi: 10.1016/j.rdc.2013.10.003. PMID: 24268009

Recent systematic reviews

Sheng X, Song X, Xiong Y, Ren T, Chang X, Wu J, Cao J, Cheng T, Wang M
Pediatr Rheumatol Online J 2023 Mar 4;21(1):22. doi: 10.1186/s12969-023-00803-0. PMID: 36870970Free PMC Article
Hoxha A, Mattia E, Zanetti A, Carrara G, Morel N, Costedoat-Chalumeau N, Brucato AL, Ruffatti A
Clin Exp Rheumatol 2020 Jul-Aug;38(4):783-791. Epub 2020 Jun 23 PMID: 32573408
Erden A, Fanouriakis A, Kiliç L, Sari A, Armağan B, Bilgin E, Şener YZ, Hymabaccus B, Gürler F, Ceylan S, Kiraz S, Karadağ Ö, Boumpas D
Turk J Med Sci 2020 Jan 9;50(1):281-290. doi: 10.3906/sag-1910-39. PMID: 31905489Free PMC Article

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