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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.
See: This record
Not genetically inherited (Orphanet)
 
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Myocardial calcification
MedGen UID:
202115
•Concept ID:
C1096561
•
Pathologic Function
Calcium deposition in the myocardium.
See: Feature record | Search on this feature
Absent atrioventricular node
MedGen UID:
870558
•Concept ID:
C4025006
•
Finding
See: Feature record | Search on this feature

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

Fetal Arrhythmia Diagnosis and Pharmacologic Management.
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
Prenatal diagnosis and management of congenital complete heart block.
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
Congenital and childhood atrioventricular blocks: pathophysiology and contemporary management.
Baruteau AE, Pass RH, Thambo JB, Behaghel A, Le Pennec S, Perdreau E, Combes N, Liberman L, McLeod CJ
Eur J Pediatr 2016 Sep;175(9):1235-1248. Epub 2016 Jun 28 doi: 10.1007/s00431-016-2748-0. PMID: 27351174Free PMC Article

Recent clinical studies

Etiology

Congenital Heart Block.
Steinberg L
Card Electrophysiol Clin 2021 Dec;13(4):691-702. doi: 10.1016/j.ccep.2021.07.006. PMID: 34689896
Hydroxychloroquine to Prevent Recurrent Congenital Heart Block in Fetuses of Anti-SSA/Ro-Positive Mothers.
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
Pregnancy and Systemic Lupus Erythematosus.
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
Prenatal diagnosis and management of congenital complete heart block.
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
Cardiac manifestations of systemic lupus erythematosus.
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

Fetal Arrhythmia Diagnosis and Pharmacologic Management.
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
Congenital Heart Block.
Steinberg L
Card Electrophysiol Clin 2021 Dec;13(4):691-702. doi: 10.1016/j.ccep.2021.07.006. PMID: 34689896
Neonatal lupus erythematosus - practical guidelines.
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
Autoimmune-mediated congenital heart block.
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
Prenatal diagnosis and management of congenital complete heart block.
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

Therapy

Systemic lupus erythematosus and pregnancy: A retrospective single-center study of 215 pregnancies from Portugal.
Braga A, Barros T, Faria R, Marinho A, Carvalheira G, Rocha G, Farinha F, Neves E, Vasconcelos C, Braga J
Lupus 2021 Nov;30(13):2165-2175. Epub 2021 Oct 24 doi: 10.1177/09612033211050340. PMID: 34693803
Hydroxychloroquine to Prevent Recurrent Congenital Heart Block in Fetuses of Anti-SSA/Ro-Positive Mothers.
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
Pregnancy and Systemic Lupus Erythematosus.
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
Congenital heart block: Pace earlier (Childhood) than later (Adulthood).
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
Fetal dysrhythmias.
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

Prognosis

Fetal Arrhythmia Diagnosis and Pharmacologic Management.
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
Neonatal lupus erythematosus - practical guidelines.
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
Hydroxychloroquine to Prevent Recurrent Congenital Heart Block in Fetuses of Anti-SSA/Ro-Positive Mothers.
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
Pregnancy and Systemic Lupus Erythematosus.
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
Cardiac manifestations of systemic lupus erythematosus.
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

Fetal Arrhythmia Diagnosis and Pharmacologic Management.
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
Autoimmune-mediated congenital heart block.
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
Pregnancy and Systemic Lupus Erythematosus.
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
Congenital heart block: Pace earlier (Childhood) than later (Adulthood).
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
Cardiac manifestations of systemic lupus erythematosus.
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

Maternal and infant outcomes of pregnancy associated with anti-SSA/RO antibodies: a systematic review and meta-analysis.
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
Fluorinated steroids are not superior to any treatment to ameliorate the outcome of autoimmune mediated congenital heart block: a systematic review of the literature and meta-analysis.
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
Geoepidemiology and clinical characteristics of neonatal lupus erythematosus: a systematic literature review of individual patients’ data.
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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