Hereditary bundle branch system defect

A form of heart block caused by dominant mutations in the SCN5A gene and characterized by RIGHT BUNDLE-BRANCH BLOCK. OMIM: 113900

Also Known As:

Cardiac conduction defect, progressive; Heart Block, Progressive Familial, Type I; Heart block progressive, familial; Heart block, progressive familial, type 1; Lenegre Lev disease; Lenegre-Lev Disease; Pfhb1a; PfhbIa; Pfhbi; Progressive Familial Heart Block, Type Ia

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Atrioventricular Block
2.	Myocarditis (Carditis)
3.	Systemic Lupus Erythematosus (Libman-Sacks Disease)
4.	Hypersensitivity (Allergy)
5.	Heart Diseases (Heart Disease)

Experts

1.	Brink, Paul: 2 articles (09/2009 - 01/2002)
2.	Corfield, Valerie: 2 articles (09/2009 - 01/2002)
3.	Barra, Sérgio Nuno Craveiro: 1 article (11/2012)
4.	Marques, António Leitão: 1 article (11/2012)
5.	Nascimento, José: 1 article (11/2012)
6.	Paiva, Luís: 1 article (11/2012)
7.	Providência, Rui: 1 article (11/2012)
8.	Baron, Estelle: 1 article (02/2012)
9.	Baruteau, Alban: 1 article (02/2012)
10.	Bezzina, Connie R: 1 article (02/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary bundle branch system defect:

1.	Transient Receptor Potential ChannelsIBA 09/01/2009 - "In 3 branches of a large South African Afrikaner pedigree with an autosomal-dominant form of PFHBI, we identified the mutation c.19G-->A in the transient receptor potential cation channel, subfamily M, member 4 gene (TRPM4) at chromosomal locus 19q13.3. This mutation predicted the amino acid substitution p.E7K in the TRPM4 amino terminus. "
2.	Lamin Type A (Lamin A)IBA 11/01/2012 - "Coronary artery disease, autoimmune disorders such as systemic lupus erythematosus or rheumatoid arthritis, history of acute or chronic infectious or hypersensitivity myocarditis, infiltrative processes, hypothyroidism, congenital cardiopathies such as left ventricular noncompaction or Ebstein anomaly, lamin A/C mutations, and pathologic hypervagotony and idiopathic degenerative scleroatrophy of the atrioventricular junctional specialized tissue (Lenegre-Lev disease) are among the most frequent etiologies of complete atrioventricular block in young or middle-aged adults. "
3.	Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA 01/01/2002 - "Characterisation of the human voltage-gated potassium channel gene, KCNA7, a candidate gene for inherited cardiac disorders, and its exclusion as cause of progressive familial heart block I (PFHBI)."
4.	Tissue Kallikreins (Tissue Kallikrein)IBA 03/15/1995 - "The maximum multipoint logarithm of the odds score was 11.6, with the 90% support interval positioning the PFHBI locus within a 10 cM distance centering on the kallikrein 1 locus. "
5.	ConnexinsIBA 02/01/2012 - "Our goal was to explore whether nucleotide substitutions in genes coding for connexin proteins would associate with clinical cases of PFHBI and if so, to establish a genotype-cell phenotype correlation for that mutation. "
6.	Proteins (Proteins, Gene)FDA Link 02/01/2012 - "Our goal was to explore whether nucleotide substitutions in genes coding for connexin proteins would associate with clinical cases of PFHBI and if so, to establish a genotype-cell phenotype correlation for that mutation. "
7.	NucleotidesIBA 02/01/2012 - "Our goal was to explore whether nucleotide substitutions in genes coding for connexin proteins would associate with clinical cases of PFHBI and if so, to establish a genotype-cell phenotype correlation for that mutation. "
8.	antineoplaston A10 (A 10)IBA 03/15/1995 - "The maximum multipoint logarithm of the odds score was 11.6, with the 90% support interval positioning the PFHBI locus within a 10 cM distance centering on the kallikrein 1 locus. "