Progressive cardiac conduction defect (PCCD) is a rare inherited degenerative disease of a
heart's electrical conduction system. Over time PCCD can lead to a complete heart block and might require a pacemaker implantation to treat it.
Genetics
Most commonly PCCD is inherited as a
autosomal dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and ...
defect and is caused by mutations of chromosome 19q13.3 and in
SCN5A
Sodium channel protein type 5 subunit alpha, also known as NaV1.5 is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. NaV1.5 is found primarily in cardiac muscle, where it mediates the fast influx of ...
,
SCN1B and
TRPM4
Transient receptor potential cation channel subfamily M member 4 (hTRPM4), also known as melastatin-4, is a protein that in humans is encoded by the TRPM4 gene. TRPM4 Channel Blocker
* 9-Phenanthrol
* TRPM4-IN-5
See also
* TRPM
References
...
genes.
References
External links
Familial progressive cardiac conduction defect on orpha
Congenital disorders
Heart diseases
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