Inherited progressive cardiac conduction disorders.

Baruteau, Alban-Elouen; Probst, Vincent; Abriel, Hugues (2015). Inherited progressive cardiac conduction disorders. Current opinion in cardiology, 30(1), pp. 33-39. Lippincott Williams & Wilkins 10.1097/HCO.0000000000000134

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PURPOSE OF REVIEW Progressive cardiac conduction disorder (PCCD) is an inherited cardiac disease that may present as a primary electrical disease or be associated with structural heart disease. In this brief review, we present recent clinical, genetic, and molecular findings relating to PCCD. RECENT FINDINGS Inherited PCCD in structurally normal hearts has been found to be linked to genetic variants in the ion channel genes SCN5A, SCN1B, SCN10A, TRPM4, and KCNK17, as well as in genes coding for cardiac connexin proteins. In addition, several SCN5A mutations lead to 'cardiac sodium channelopathy overlap syndrome'. Other genes coding for cardiac transcription factors, such as NKX2.5 and TBX5, are involved in the development of the cardiac conduction system and in the morphogenesis of the heart. Mutations in these two genes have been shown to cause cardiac conduction disorders associated with various congenital heart defects. SUMMARY PCCD is a hereditary syndrome, and genetic variants in multiple genes have been described to date. Genetic screening and identification of the causal mutation are crucial for risk stratification and family counselling.

Item Type:

Journal Article (Review Article)

Division/Institute:

04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Ionenkanalkrankheiten
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Ionenkanalkrankheiten

UniBE Contributor:

Abriel, Hugues

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0268-4705

Publisher:

Lippincott Williams & Wilkins

Language:

English

Submitter:

Verena de Serra Frazao-Bill

Date Deposited:

12 Apr 2016 17:34

Last Modified:

02 Nov 2016 11:01

Publisher DOI:

10.1097/HCO.0000000000000134

PubMed ID:

25426816

BORIS DOI:

10.7892/boris.80628

URI:

https://boris.unibe.ch/id/eprint/80628

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