1.
Clin Genet
; 92(4): 444-446, 2017 10.
Article
in English
| MEDLINE
| ID: mdl-28401540
Subject(s)
Aortic Aneurysm, Thoracic/genetics , Aortic Dissection/genetics , Calcium-Binding Proteins/genetics , Myosin-Light-Chain Kinase/genetics , Aged , Aortic Dissection/physiopathology , Aortic Aneurysm, Thoracic/physiopathology , Codon, Nonsense/genetics , Female , Haploinsufficiency/genetics , Humans , Male , Medical History Taking , Middle Aged , Pedigree
2.
Clin Genet
; 88(2): 101-13, 2015 Aug.
Article
in English
| MEDLINE
| ID: mdl-25307320
ABSTRACT
Sudden cardiac death (SCD) has an enormous impact on those who are left behind, evoking strong feelings of anxiety and incomprehension because such a dramatic event was not anticipated. Moreover, over the last decade a prominent genetic contribution to the pathogenesis of SCD has been unveiled. As many inherited cardiac diseases show an autosomal dominant pattern of inheritance, the risk of carrying the same inherited predisposition is a real concern for the relatives. In this article, we discuss the major causes of primary electrical disorders, cardiomyopathies and thoracic aortic dissection and address issues in genotype-phenotype correlation, personalized management and cardiogenetic counselling.