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Third degree atrioventricular block

MedGen UID:
56230
Concept ID:
C0151517
Disease or Syndrome
Synonym: Complete heart block
SNOMED CT: High grade atrioventricular block (27885002); Complete atrioventricular block (27885002); Third degree atrioventricular block (27885002); Third degree heart block (27885002); Complete heart block (27885002); CHB - Complete heart block (27885002)
 
HPO: HP:0001709
Monarch Initiative: MONDO:0000468

Definition

Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them. [from HPO]

Conditions with this feature

Kearns-Sayre syndrome
MedGen UID:
9618
Concept ID:
C0022541
Disease or Syndrome
Mitochondrial DNA (mtDNA) deletion syndromes predominantly comprise three overlapping phenotypes that are usually simplex (i.e., a single occurrence in a family), but rarely may be observed in different members of the same family or may evolve from one clinical syndrome to another in a given individual over time. The three classic phenotypes caused by mtDNA deletions are Kearns-Sayre syndrome (KSS), Pearson syndrome, and progressive external ophthalmoplegia (PEO). KSS is a progressive multisystem disorder defined by onset before age 20 years, pigmentary retinopathy, and PEO; additional features include cerebellar ataxia, impaired intellect (intellectual disability, dementia, or both), sensorineural hearing loss, ptosis, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, cardiac conduction block, and endocrinopathy. Pearson syndrome is characterized by sideroblastic anemia and exocrine pancreas dysfunction and may be fatal in infancy without appropriate hematologic management. PEO is characterized by ptosis, impaired eye movements due to paralysis of the extraocular muscles (ophthalmoplegia), oropharyngeal weakness, and variably severe proximal limb weakness with exercise intolerance. Rarely, a mtDNA deletion can manifest as Leigh syndrome.
Holt-Oram syndrome
MedGen UID:
120524
Concept ID:
C0265264
Disease or Syndrome
Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation.
Dilated cardiomyopathy 1A
MedGen UID:
258500
Concept ID:
C1449563
Disease or Syndrome
LMNA-related dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and/or reduced systolic function preceded (sometimes by many years) by or accompanied by conduction system disease and/or arrhythmias. LMNA-related DCM usually presents in early to mid-adulthood with symptomatic conduction system disease or arrhythmias, or with symptomatic DCM including heart failure or embolus from a left ventricular mural thrombus. Sudden cardiac death can occur, and in some instances is the presenting manifestation; sudden cardiac death may occur with minimal or no systolic dysfunction.
Desmin-related myofibrillar myopathy
MedGen UID:
330449
Concept ID:
C1832370
Disease or Syndrome
Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB; 123590), dystrophin (300377), and myotilin (TTID; 604103). Genetic Heterogeneity of Myofibrillar Myopathy Other forms of MFM include MFM2 (608810), caused by mutation in the CRYAB gene (123590); MFM3 (609200), caused by mutation in the MYOT gene (604103); MFM4 (609452), caused by mutation in the ZASP gene (LDB3; 605906); MFM5 (609524), caused by mutation in the FLNC gene (102565); MFM6 (612954), caused by mutation in the BAG3 gene (603883); MFM7 (617114), caused by mutation in the KY gene (605739); MFM8 (617258), caused by mutation in the PYROXD1 gene (617220); MFM9 (603689), caused by mutation in the TTN gene (188840); MFM10 (619040), caused by mutation in the SVIL UNC45B gene (611220); MFM11 (619178), caused by mutation in the UNC45B gene (611220); and MFM12 (619424), caused by mutation in the MYL2 gene (160781). 'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (602771), caused by mutation in the SEPN1 gene (606210), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.
Atrial fibrillation, familial, 18
MedGen UID:
934603
Concept ID:
C4310636
Disease or Syndrome
Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm. Atrial fibrillation is characterized by episodes of uncoordinated electrical activity (fibrillation) in the heart's upper chambers (the atria), which cause a fast and irregular heartbeat. If untreated, this abnormal heart rhythm (arrhythmia) can lead to dizziness, chest pain, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, or fainting (syncope). Atrial fibrillation also increases the risk of stroke and sudden death. Complications of atrial fibrillation can occur at any age, although some people with this heart condition never experience any health problems associated with the disorder.
LEOPARD syndrome 1
MedGen UID:
1631694
Concept ID:
C4551484
Disease or Syndrome
Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth restriction resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25th centile for age. Sensorineural hearing deficits, present in approximately 20% of affected individuals, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML.
Acromesomelic dysplasia 4
MedGen UID:
1794238
Concept ID:
C5562028
Disease or Syndrome
Acromesomelic dysplasia-4 (AMD4) is characterized by disproportionate short stature due to mesomelic shortening of the limbs. Radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age (Diaz-Gonzalez et al., 2022). For a discussion of genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875).
Immunodeficiency 87 and autoimmunity
MedGen UID:
1794280
Concept ID:
C5562070
Disease or Syndrome
Immunodeficiency-87 and autoimmunity (IMD87) is an autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation (summary by Serwas et al., 2019 and Fournier et al., 2021).
Developmental and epileptic encephalopathy 101
MedGen UID:
1805172
Concept ID:
C5676955
Disease or Syndrome
Developmental and epileptic encephalopathy-101 (DEE101) is a severe autosomal recessive disorder characterized by early infantile epileptic encephalopathy and severe global developmental delay (summary by Blakes et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Yndigegn T, Lindahl B, Mars K, Alfredsson J, Benatar J, Brandin L, Erlinge D, Hallen O, Held C, Hjalmarsson P, Johansson P, Karlström P, Kellerth T, Marandi T, Ravn-Fischer A, Sundström J, Östlund O, Hofmann R, Jernberg T; REDUCE-AMI Investigators
N Engl J Med 2024 Apr 18;390(15):1372-1381. Epub 2024 Apr 7 doi: 10.1056/NEJMoa2401479. PMID: 38587241
Sherpa K, Sherpa PP, Sherpa T, Rothenbühler M, Ryffel C, Sherpa D, Sherpa DR, Sherchand O, Galuszka O, Dernektsi C, Reichlin T, Pilgrim T
JAMA Cardiol 2024 May 1;9(5):480-485. doi: 10.1001/jamacardio.2024.0364. PMID: 38568602Free PMC Article
Eulert-Grehn JJ, Schmidt G, Kempfert J, Starck C
Pacing Clin Electrophysiol 2018 Sep;41(9):1266-1267. Epub 2018 Jul 11 doi: 10.1111/pace.13412. PMID: 29893417
Ochsenbein-Kölble N, Krähenmann F, Hüsler M, Meuli M, Moehrlen U, Mazzone L, Biro P, Zimmermann R
Fetal Diagn Ther 2018;44(1):59-64. Epub 2017 Aug 17 doi: 10.1159/000478261. PMID: 28813702
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Ann Intern Med 1983 Oct;99(4):528-38. doi: 10.7326/0003-4819-99-4-528. PMID: 6354032

Diagnosis

Yndigegn T, Lindahl B, Mars K, Alfredsson J, Benatar J, Brandin L, Erlinge D, Hallen O, Held C, Hjalmarsson P, Johansson P, Karlström P, Kellerth T, Marandi T, Ravn-Fischer A, Sundström J, Östlund O, Hofmann R, Jernberg T; REDUCE-AMI Investigators
N Engl J Med 2024 Apr 18;390(15):1372-1381. Epub 2024 Apr 7 doi: 10.1056/NEJMoa2401479. PMID: 38587241
Xu Z, Chang Q, Liu R
JAMA Intern Med 2024 Apr 1;184(4):437-438. doi: 10.1001/jamainternmed.2023.7858. PMID: 38407870
Doğan E, Bilen Ç
Cardiol Young 2023 Nov;33(11):2449-2451. Epub 2023 Jul 26 doi: 10.1017/S1047951123002561. PMID: 37492031
Clark BA, Prystowsky EN
Cardiol Clin 2023 Aug;41(3):307-313. doi: 10.1016/j.ccl.2023.03.007. PMID: 37321683
Clark BA, Prystowsky EN
Card Electrophysiol Clin 2021 Dec;13(4):599-605. Epub 2021 Sep 25 doi: 10.1016/j.ccep.2021.07.001. PMID: 34689889

Therapy

Yndigegn T, Lindahl B, Mars K, Alfredsson J, Benatar J, Brandin L, Erlinge D, Hallen O, Held C, Hjalmarsson P, Johansson P, Karlström P, Kellerth T, Marandi T, Ravn-Fischer A, Sundström J, Östlund O, Hofmann R, Jernberg T; REDUCE-AMI Investigators
N Engl J Med 2024 Apr 18;390(15):1372-1381. Epub 2024 Apr 7 doi: 10.1056/NEJMoa2401479. PMID: 38587241
Comi G, Kappos L, Selmaj KW, Bar-Or A, Arnold DL, Steinman L, Hartung HP, Montalban X, Kubala Havrdová E, Cree BAC, Sheffield JK, Minton N, Raghupathi K, Ding N, Cohen JA; SUNBEAM Study Investigators
Lancet Neurol 2019 Nov;18(11):1009-1020. Epub 2019 Sep 3 doi: 10.1016/S1474-4422(19)30239-X. PMID: 31492651
Eulert-Grehn JJ, Schmidt G, Kempfert J, Starck C
Pacing Clin Electrophysiol 2018 Sep;41(9):1266-1267. Epub 2018 Jul 11 doi: 10.1111/pace.13412. PMID: 29893417
Shingaki M, Kobayashi Y, Suzuki H
Asian Cardiovasc Thorac Ann 2015 Nov;23(9):1093-5. Epub 2014 May 13 doi: 10.1177/0218492314534250. PMID: 24823380
Letavernier E, Couzi L, Delmas Y, Moreau K, Murcott O, de Précigout V
Hemodial Int 2006 Apr;10(2):170-2. doi: 10.1111/j.1542-4758.2006.00090.x. PMID: 16623670

Prognosis

Sherpa K, Sherpa PP, Sherpa T, Rothenbühler M, Ryffel C, Sherpa D, Sherpa DR, Sherchand O, Galuszka O, Dernektsi C, Reichlin T, Pilgrim T
JAMA Cardiol 2024 May 1;9(5):480-485. doi: 10.1001/jamacardio.2024.0364. PMID: 38568602Free PMC Article
Guzik P, Han A, Shapiro SC, Shaikh K
Methodist Debakey Cardiovasc J 2020 Apr-Jun;16(2):162-166. doi: 10.14797/mdcj-16-2-162. PMID: 32670478Free PMC Article
Miwa E, Tani T, Okada Y, Furukawa Y
Echocardiography 2017 Mar;34(3):474-475. Epub 2017 Jan 31 doi: 10.1111/echo.13445. PMID: 28139004
Shingaki M, Kobayashi Y, Suzuki H
Asian Cardiovasc Thorac Ann 2015 Nov;23(9):1093-5. Epub 2014 May 13 doi: 10.1177/0218492314534250. PMID: 24823380
Letavernier E, Couzi L, Delmas Y, Moreau K, Murcott O, de Précigout V
Hemodial Int 2006 Apr;10(2):170-2. doi: 10.1111/j.1542-4758.2006.00090.x. PMID: 16623670

Clinical prediction guides

Guzik P, Han A, Shapiro SC, Shaikh K
Methodist Debakey Cardiovasc J 2020 Apr-Jun;16(2):162-166. doi: 10.14797/mdcj-16-2-162. PMID: 32670478Free PMC Article
Comi G, Kappos L, Selmaj KW, Bar-Or A, Arnold DL, Steinman L, Hartung HP, Montalban X, Kubala Havrdová E, Cree BAC, Sheffield JK, Minton N, Raghupathi K, Ding N, Cohen JA; SUNBEAM Study Investigators
Lancet Neurol 2019 Nov;18(11):1009-1020. Epub 2019 Sep 3 doi: 10.1016/S1474-4422(19)30239-X. PMID: 31492651
Shingaki M, Kobayashi Y, Suzuki H
Asian Cardiovasc Thorac Ann 2015 Nov;23(9):1093-5. Epub 2014 May 13 doi: 10.1177/0218492314534250. PMID: 24823380
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Recent systematic reviews

Pay L, Yumurtaş AÇ, Satti DI, Hui JMH, Chan JSK, Mahalwar G, Lee YHA, Tezen O, Birdal O, Inan D, Özkan E, Tse G, Çinier G
Anatol J Cardiol 2023 Mar;27(3):126-131. doi: 10.14744/AnatolJCardiol.2023.2799. PMID: 36856589Free PMC Article
Richards JR, Blohm E, Toles KA, Jarman AF, Ely DF, Elder JW
Clin Toxicol (Phila) 2020 Sep;58(9):861-869. Epub 2020 Apr 8 doi: 10.1080/15563650.2020.1743847. PMID: 32267189

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