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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

Abnormality of the cardiovascular system

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital heart block

Disorder of cardiovascular system
- Abnormality of the cardiovascular system
  - Abnormal cardiovascular system physiology
    - Abnormality of cardiovascular system electrophysiology
      - Cardiac arrhythmia
        Genetic cardiac rhythm disease
        Congenital heart block

Follow this link to review classifications for Congenital heart block in Orphanet.

Professional guidelines

PubMed

Identifying Congenital Heart Block in Primary Care.

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

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: 36106782 Free 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: 30821931 Free PMC Article

See all (26)

Recent clinical studies

Etiology

Congenital Heart Block.

Steinberg L
Cardiol Clin 2023 Aug;41(3):399-410. doi: 10.1016/j.ccl.2023.03.002. PMID: 37321690

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

Pregnancy in systemic lupus erythematosus.

Khamashta MA, Hughes GR
Curr Opin Rheumatol 1996 Sep;8(5):424-9. doi: 10.1097/00002281-199609000-00006. PMID: 8941445

Neonatal lupus syndrome.

Olson NY, Lindsley CB
Am J Dis Child 1987 Aug;141(8):908-10. doi: 10.1001/archpedi.1987.04460080094037. PMID: 3307387

See all (350)

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: 36106782 Free 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

Arrhythmias in the developing heart.

Sedmera D, Kockova R, Vostarek F, Raddatz E
Acta Physiol (Oxf) 2015 Feb;213(2):303-20. Epub 2014 Nov 15 doi: 10.1111/apha.12418. PMID: 25363044

Commentary.

Wener MH
Clin Chem 2014 Sep;60(9):1156-7. doi: 10.1373/clinchem.2014.224535. PMID: 25170166

Neonatal lupus syndromes.

Izmirly PM, Rivera TL, Buyon JP
Rheum Dis Clin North Am 2007 May;33(2):267-85, vi. doi: 10.1016/j.rdc.2007.02.005. PMID: 17499707

See all (331)

Therapy

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: 32674792 Free 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

Dilated Cardiomyopathy in Children With Isolated Congenital Complete Atrioventricular Block.

Horigome H
Circ J 2016 Apr 25;80(5):1110-2. Epub 2016 Apr 6 doi: 10.1253/circj.CJ-16-0284. PMID: 27053494

Neonatal lupus syndromes.

Izmirly PM, Rivera TL, Buyon JP
Rheum Dis Clin North Am 2007 May;33(2):267-85, vi. doi: 10.1016/j.rdc.2007.02.005. PMID: 17499707

Neonatal lupus: clinical features, therapy, and pathogenesis.

Lee LA
Curr Rheumatol Rep 2001 Oct;3(5):391-5. doi: 10.1007/s11926-996-0009-3. PMID: 11564370

See all (131)

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: 36106782 Free PMC Article

Neonatal lupus erythematosus - practical guidelines.

Hydroxychloroquine to Prevent Recurrent Congenital Heart Block in Fetuses of Anti-SSA/Ro-Positive Mothers.

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

See all (201)

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: 36106782 Free PMC Article

False Asystole Alarms Post-Temporary Pacemaker Placement Due to Pseudo-fusion.

Vermeulen AM, Zimmerman F, Nguyen HH
Pediatr Cardiol 2021 Jan;42(1):215-218. Epub 2020 Nov 28 doi: 10.1007/s00246-020-02502-z. PMID: 33247766

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

Neonatal lupus syndromes.

Izmirly PM, Rivera TL, Buyon JP
Rheum Dis Clin North Am 2007 May;33(2):267-85, vi. doi: 10.1016/j.rdc.2007.02.005. PMID: 17499707

See all (172)

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: 36870970 Free 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: 31905489 Free PMC Article

See all (3)

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Congenital heart block

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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