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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. Autosomal dominant inheritance (Orphanet)

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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Progressive familial 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
        Progressive familial heart block

Professional guidelines

PubMed

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: 27351174 Free PMC Article

Clinical management of arrhythmogenic right ventricular cardiomyopathy: an update.

Migliore F, Zorzi A, Silvano M, Rigato I, Basso C, Thiene G, Corrado D
Curr Pharm Des 2010;16(26):2918-28. doi: 10.2174/138161210793176491. PMID: 20632952

Laboratory tests in the diagnosis and follow-up of pediatric rheumatic diseases: an update.

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

See all (7)

Recent clinical studies

Etiology

Mendelian-inherited heart disease: a gateway to understanding mechanisms in heart disease Update on work done at the University of Stellenbosch.

Brink PA, Moolman-Smook JC, Corfield VA
Cardiovasc J Afr 2009 Jan-Feb;20(1):57-63. PMID: 19287818 Free PMC Article

Progressive familial heart block type II (PFHBII): a clinical profile from 1977 to 2003.

Fernandez P, Corfield VA, Brink PA
Cardiovasc J S Afr 2004 May-Jun;15(3):129-32. PMID: 15258623

Progressive familial heart block (type I). A follow-up study after 10 years.

Van der Merwe PL, Weymar HW, Torrington M, Brink AJ
S Afr Med J 1988 Mar 5;73(5):275-6. PMID: 3347879

Progressive familial heart block--two types.

Brink AJ, Torrington M
S Afr Med J 1977 Jul 9;52(2):53-9. PMID: 897853

See all (4)

Diagnosis

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I.

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

Gene for progressive familial heart block type I maps to chromosome 19q13.

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

Progressive familial heart block. Part II. Clinical and ECG confirmation of progression--report on 4 cases.

van der Merwe PL, Weymar HW, Torrington M, Brink AJ
S Afr Med J 1986 Sep 13;70(6):356-7. PMID: 3750143

Progressive familial heart block. Part I. Extent of the disease.

Torrington M, Weymar HW, van der Merwe PL, Brink AJ
S Afr Med J 1986 Sep 13;70(6):353-5. PMID: 3750142

Progressive familial heart block--two types.

Brink AJ, Torrington M
S Afr Med J 1977 Jul 9;52(2):53-9. PMID: 897853

See all (5)

Prognosis

In silico analysis of TRPM4 variants of unknown clinical significance.

Tarnovskaya SI, Kostareva AA, Zhorov BS
PLoS One 2023;18(12):e0295974. Epub 2023 Dec 15 doi: 10.1371/journal.pone.0295974. PMID: 38100498 Free PMC Article

A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.

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: 22247482 Free PMC Article

Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I.

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: 19726882 Free PMC Article

Progressive familial heart block type I. Clinical and pathological observations.

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

Progressive familial heart block (type I). A follow-up study after 10 years.

Van der Merwe PL, Weymar HW, Torrington M, Brink AJ
S Afr Med J 1988 Mar 5;73(5):275-6. PMID: 3347879

See all (5)

Clinical prediction guides

In silico analysis of TRPM4 variants of unknown clinical significance.

Tarnovskaya SI, Kostareva AA, Zhorov BS
PLoS One 2023;18(12):e0295974. Epub 2023 Dec 15 doi: 10.1371/journal.pone.0295974. PMID: 38100498 Free PMC Article

TRPM4 channels in the cardiovascular system.

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

A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.

A gene locus for progressive familial heart block type II (PFHBII) maps to chromosome 1q32.2-q32.3.

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

Progressive familial heart block type II (PFHBII): a clinical profile from 1977 to 2003.

Fernandez P, Corfield VA, Brink PA
Cardiovasc J S Afr 2004 May-Jun;15(3):129-32. PMID: 15258623

See all (8)