Genetic variants identified by target next-generation sequencing in heart transplant patients with dilated cardiomyopathy
ConclusionOur results highlight the potential of NGS in the genetic characterization of DCM patients. LMNA is one of the most frequently mutated genes and should be included in all target gene assessments of end-stage DCM patients until more data are available.ResumoIntrodução e objetivosA miocardiopatia dilatada é uma doença miocárdica que pode evoluir para um estádio terminal, requerendo transplante cardíaco. Neste trabalho, pretendemos contribuir para o conhecimento das variantes genéticas presentes em pacientes adultos submetidos a transplante cardíaco, descrevendo os resultados obtidos utilizando técnicas de...
Source: Revista Portuguesa de Cardiologia - September 14, 2019 Category: Cardiology Source Type: research
Genomic characterization in dilated cardiomyopathy
Publication date: June 2019Source: Revista Portuguesa de Cardiologia (English Edition), Volume 38, Issue 6Author(s): Marina C. Costa (Source: Revista Portuguesa de Cardiologia)
Source: Revista Portuguesa de Cardiologia - September 14, 2019 Category: Cardiology Source Type: research
The heart in an air bubble
Publication date: June 2019Source: Revista Portuguesa de Cardiologia (English Edition), Volume 38, Issue 6Author(s): Sara Moura-Ferreira, Anabela Tavares, Dinis Martins (Source: Revista Portuguesa de Cardiologia)
Source: Revista Portuguesa de Cardiologia - September 14, 2019 Category: Cardiology Source Type: research
Two hearts: A complex case of heart failure
Publication date: Available online 12 September 2019Source: Revista Portuguesa de Cardiologia (English Edition)Author(s): Sofia Torres, Sandra Amorim, Mariana Vasconcelos, Carla Sousa, M. Júlia Maciel, Filipe Macedo (Source: Revista Portuguesa de Cardiologia)
Source: Revista Portuguesa de Cardiologia - September 13, 2019 Category: Cardiology Source Type: research
Practical guide for the use of PCSK9 inhibitors in Portugal
Publication date: Available online 31 August 2019Source: Revista Portuguesa de Cardiologia (English Edition)Author(s): Ricardo Fontes-Carvalho, Pedro Marques Silva, Elisabete Rodrigues, Francisco Araújo, Cristina Gavina, Jorge Ferreira, João MoraisAbstractReducing low-density lipoprotein cholesterol (LDL-C) levels is one of the most important strategies for reducing the risk of cardiovascular events. However, in clinical practice, a high proportion of patients do not achieve recommended LDL-C levels through lifestyle and lipid-lowering therapy with statins and ezetimibe. PCSK9 inhibitors (PCSK9i) are a new therapeutic op...
Source: Revista Portuguesa de Cardiologia - August 31, 2019 Category: Cardiology Source Type: research
