Progressive cardiac conduction disease (PCCD) is a slow, degenerative process that affects the cardiac conduction system at any level, with or without concomitant structural heart disease. Evidence suggests that PCCD has important genetic contribution. The precise prevalence of PCCD of genetic origin is estimated in 1:2000. Clinical manifestations of PCCD include bradycardia, prolonged P wave, PR and/or QRS intervals, fascicular and/or AV block of various severity, syncope, and occasionally sudden death. The disease is usually progressive, and currently constitutes one of the main indications for pacemaker implantation worldwide. Current knowledge suggests that familial PCCD in the absence of structural/congenital heart disease or a systemic disease usually results from mutations in genes encoding cardiac ion channels, involved in cardiac electrical impulse propagation, whereas PCCD in the context of structural heart disease is usually caused by mutations in genes encoding transcriptional factors, enzymes, or structural proteins.
Why to perform genetic testing in cases with PCCD
- To confirm a genetic origin of the disease
- To provide specific treatment and prognosis
- To detect family members at risk to develop the disease
Our PCCD genetic test panel
CACNA1C, DES, GJA5, GLA, HCN4, KCNH2, KCNJ2, KCNQ1, LAMP2, LMNA, NKX2.5, PKP2, PRKAG2, SCN5A, SCN1B, SCN4B, SCN10A, TBX3, TBX5, TRPM4.
Important: All our panels can be modified based on the phenotype. Please contact us if you have questions
What to expect from the PCCD genetic test panel: The yield of the test is general close to 50% it can be higher when family history is positive
- TRPM4 Mutation in Patients With Ventricular Noncompaction and CardiacConduction Disease. Saito Y et al, Circ Genom Precis Med. 2018 May;11(5):e002103. doi: 10.1161/CIRCGEN.118.002103.
- Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders. Rezazadeh S, Duff HJ. Can J Cardiol. 2017 Jun;33(6):758-767. doi: 10.1016/j.cjca.2017.03.010.
Download here interesting open access manuscripts on genetics of PCCD