7 documents found, page 1 of 1
Diastology in the intensive care unit: challenges for the assessment and future...
Gonzalez, Filipe; Santonocito, Cristina; Maybauer, Marc O.; Lopes, Luís Rocha; Almeida, Ana G.; Sanfilippo, FilippoMyocardial dysfunction is common in patients admitted to the intensive care unit (ICU). Septic disease frequently results in cardiac dysfunction, and sepsis represents the most common cause of admission and death in the ICU. The association between left ventricular (LV) systolic dysfunction and mortality is not clear for critically ill patients. Conversely, LV diastolic dysfunction (DD) seems increasingly recog...
Whole-genome DNA sequencing: the key to detecting a sarcomeric mutation in a ‘f...
Gomes, Ana Catarina; Barbosa, Pedro Santos; Coutinho, Ana; Cruz, Inês; Carmo-Fonseca, Maria; Lopes, Luís RochaThe authors report the clinical and genetic investigation of a family with hypertrophic cardiomyopathy (HCM). The individuals described are three affected first-degree relatives (father, daughter and son), one affected niece and unaffected nephew and niece. Those affected all share a very similar phenotype consisting of asymmetric HCM, with hypertrophy particularly affecting the septum and the anterior wall, an...
Specific therapy for transthyretin cardiac amyloidosis: a systematic literature...
Marques, Nuno; Azevedo, Olga; Almeida, Ana Rita; Bento, Dina; Cruz, Inês; Correia, Emanuel; Lourenço, Carolina; Lopes, Luís RochaBackground The emergence of specific therapies for transthyretin cardiac amyloidosis (CA) warrants the need for a systematic review of the literature. Methods and Results A systematic review of the literature was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A systematic search was performed on MEDLINE, PubMed, and Embase databases on November 29,...
The Portuguese Registry of Hypertrophic Cardiomyopathy : overall results
Cardim, Nuno; Brito, Dulce; Lopes, Luís Rocha; Freitas, António; Araújo, Carla; Belo, Adriana; Gonçalves, Lino; Mimoso, Jorge; Olivotto, IacopoIntroduction: We report the results of the Portuguese Registry of Hypertrophic Cardiomyopathy, an initiative that reflects the current spectrum of cardiology centers throughout the territory of Portugal. Methods: A direct invitation to participate was sent to cardiology departments. Baseline and outcome data were collected. Results: A total of 29 centers participated and 1042 patients were recruited. Four cente...
Awareness of Fabry disease in cardiology : a gap to be filled
Brito, Dulce; Cardim, Nuno; Lopes, Luís Rocha; Belo, Adriana; Mimoso, Jorge; Gonçalves, Lino; Madeira, HugoIntroduction: In adults, unexplained left ventricular hypertrophy is usually due to sarcomeric hypertrophic cardiomyopathy (HCM). Fabry disease (FD) is rare but may mimic sarcomeric HCM, and has an adverse prognosis in the absence of specific treatment. We aimed to assess cardiologists’ awareness of FD based on data from the Portuguese Registry of Hypertrophic Cardiomyopathy. Methods: A total of 811 index patie...
Whole gene sequencing identifies deep-intronic variants with potential function...
Almeida, Rita Mendes de; Tavares, Joana; Martins, Sandra; Carvalho, Teresa; Enguita, Francisco J.; Brito, Dulce; Fonseca, Maria Carmo; Lopes, Luís RochaHigh throughput sequencing technologies have revolutionized the identification of mutations responsible for genetic diseases such as hypertrophic cardiomyopathy (HCM). However, approximately 50% of individuals with a clinical diagnosis of HCM have no causal mutation identified. This may be due to the presence of pathogenic mutations located deep within the introns, which are not detected by conventional sequenc...
Documento de consenso sobre codificação de exames de ressonância magnética card...
Ferreira, António Miguel; Almeida, Ana G.; Oliveira, Luís; Bettencourt, Nuno; Marques, Hugo; Matos, Pedro; Abecasis, João; Abreu, JoãoOne of the obstacles to more frequent and appropriate use of cardiac magnetic resonance (CMR) in Portugal has been the lack of specific codes that accurately describe these examinations as they are currently performed. In this consensus document, recommendations are made for updating and standardizing CMR codes in Portugal. Guidance on which techniques and codes should be used in the most common clinical scenar...