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Progressive familial heart block

MedGen UID:
1631060
Concept ID:
CN230454
Disease or Syndrome
Synonyms: familial Lenegre disease; Familial Lenègre disease; familial Lenègre disease; Familial Lev disease; familial Lev disease; familial Lev-Lenegre disease; familial Lev-Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; familial PCCD; familial progressive cardiac conduction defect; Familial progressive cardiac conduction defect; Familial progressive heart block; familial progressive heart block; Hereditary bundle branch defect; PFHB; progressive familial heart block
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0019490
OMIM® Phenotypic series: PS113900
Orphanet: ORPHA871

Definition

A genetic cardiac rhythm disease that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death. [from ORDO]

Term Hierarchy

Professional guidelines

PubMed

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
Breda L, Nozzi M, De Sanctis S, Chiarelli F
Semin Arthritis Rheum 2010 Aug;40(1):53-72. Epub 2009 Feb 26 doi: 10.1016/j.semarthrit.2008.12.001. PMID: 19246077
Lee LA
Paediatr Drugs 2004;6(2):71-8. doi: 10.2165/00148581-200406020-00001. PMID: 15035648

Recent clinical studies

Etiology

Brink PA, Moolman-Smook JC, Corfield VA
Cardiovasc J Afr 2009 Jan-Feb;20(1):57-63. PMID: 19287818Free PMC Article
Fernandez P, Corfield VA, Brink PA
Cardiovasc J S Afr 2004 May-Jun;15(3):129-32. PMID: 15258623
Van der Merwe PL, Weymar HW, Torrington M, Brink AJ
S Afr Med J 1988 Mar 5;73(5):275-6. PMID: 3347879
Brink AJ, Torrington M
S Afr Med J 1977 Jul 9;52(2):53-9. PMID: 897853

Diagnosis

Daumy X, Amarouch MY, Lindenbaum P, Bonnaud S, Charpentier E, Bianchi B, Nafzger S, Baron E, Fouchard S, Thollet A, Kyndt F, Barc J, Le Scouarnec S, Makita N, Le Marec H, Dina C, Gourraud JB, Probst V, Abriel H, Redon R, Schott JJ
Int J Cardiol 2016 Mar 15;207:349-58. Epub 2016 Jan 11 doi: 10.1016/j.ijcard.2016.01.052. PMID: 26820365
Brink PA, Ferreira A, Moolman JC, Weymar HW, van der Merwe PL, Corfield VA
Circulation 1995 Mar 15;91(6):1633-40. doi: 10.1161/01.cir.91.6.1633. PMID: 7882468
van der Merwe PL, Weymar HW, Torrington M, Brink AJ
S Afr Med J 1986 Sep 13;70(6):356-7. PMID: 3750143
Torrington M, Weymar HW, van der Merwe PL, Brink AJ
S Afr Med J 1986 Sep 13;70(6):353-5. PMID: 3750142
Brink AJ, Torrington M
S Afr Med J 1977 Jul 9;52(2):53-9. PMID: 897853

Prognosis

Tarnovskaya SI, Kostareva AA, Zhorov BS
PLoS One 2023;18(12):e0295974. Epub 2023 Dec 15 doi: 10.1371/journal.pone.0295974. PMID: 38100498Free PMC Article
Makita N, Seki A, Sumitomo N, Chkourko H, Fukuhara S, Watanabe H, Shimizu W, Bezzina CR, Hasdemir C, Mugishima H, Makiyama T, Baruteau A, Baron E, Horie M, Hagiwara N, Wilde AA, Probst V, Le Marec H, Roden DM, Mochizuki N, Schott JJ, Delmar M
Circ Arrhythm Electrophysiol 2012 Feb;5(1):163-72. Epub 2012 Jan 13 doi: 10.1161/CIRCEP.111.967604. PMID: 22247482Free PMC Article
Kruse M, Schulze-Bahr E, Corfield V, Beckmann A, Stallmeyer B, Kurtbay G, Ohmert I, Schulze-Bahr E, Brink P, Pongs O
J Clin Invest 2009 Sep;119(9):2737-44. Epub 2009 Aug 24 doi: 10.1172/JCI38292. PMID: 19726882Free PMC Article
van der Merwe PL, Rose AG, van der Walt JJ, Weymar HW, Hunter JC, Weich HF
S Afr Med J 1991 Jul 6;80(1):34-8. PMID: 2063242
Van der Merwe PL, Weymar HW, Torrington M, Brink AJ
S Afr Med J 1988 Mar 5;73(5):275-6. PMID: 3347879

Clinical prediction guides

Tarnovskaya SI, Kostareva AA, Zhorov BS
PLoS One 2023;18(12):e0295974. Epub 2023 Dec 15 doi: 10.1371/journal.pone.0295974. PMID: 38100498Free PMC Article
Kruse M, Pongs O
Curr Opin Pharmacol 2014 Apr;15:68-73. Epub 2013 Dec 25 doi: 10.1016/j.coph.2013.12.003. PMID: 24721656
Fernandez P, Moolman-Smook J, Brink P, Corfield V
Hum Genet 2005 Oct;118(1):133-7. Epub 2005 Oct 28 doi: 10.1007/s00439-005-0029-5. PMID: 16086176
Fernandez P, Corfield VA, Brink PA
Cardiovasc J S Afr 2004 May-Jun;15(3):129-32. PMID: 15258623
Brink PA, Ferreira A, Moolman JC, Weymar HW, van der Merwe PL, Corfield VA
Circulation 1995 Mar 15;91(6):1633-40. doi: 10.1161/01.cir.91.6.1633. PMID: 7882468

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