Inherited cardiac disease

Inherited Cardiac Arrhythmia Syndromes

Lethal cardiac arrhythmias in individuals with structurally normal heart are often caused by variants in genes that encode cardiac ion channel and -subunits (102). Common inherited arrhythmia syndromes include the congenital long QT syndrome (LQTS), Brugada syndrome (BrS), short QT syndrome (SQT), and catecholaminergic polymorphic ventricular tachycardia (CPVT) (76). Moreover, inherited mutatio...

Inherited interstitial lung disease.

This article focuses on recent advances in the identification of genes and genetic polymorphisms that have been implicated in the development of human interstitial lung diseases. It focuses on the inherited mendelian diseases in which pulmonary fibrosis is part of the clinical phenotype and the genetics of familial idiopathic pulmonary fibrosis and other rare inherited interstitial lung disease...

Cardiac sodium channel and inherited arrhythmia syndromes.

Developmental Basis of Cardiac Inherited Diseases

470 Extracardiac endothelium patterns embryonic coronary arterio-venous connections JM. Perez-Pomares1; E. Cano2; R. Carmona1; A. Ruiz-Villalba3; A. Rojas4; Y-Y. Chau5; KD. Wagner6; N. Wagner6; ND. Hastie5; R. Munoz-Chapuli1 University of Málaga, Málaga, Spain; Max Delbruck Center for Molecular Medicine, Berlin, Germany; University of Navarra, Pamplona, Spain; Centro Andaluz de Biologı́a Molecul...

Prediction Methods for Inherited Disease

Recent improvements in the accessibility of high-throughput genotyping have brought a great deal of attention to disease association studies[6]. It is believed that more accurate disease association is achieved with inferred haplotypes rather than with directly available genotypes. The main goal of disease association analysis is to identify gene variations or, in general, haplotypes which cont...