Browsing by Author "Pinto, CS"
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- Aortic valve surgery in patients who had undergone surgical myocardial revascularization previously.Publication . Paupério, GS; Pinto, CS; Antunes, PE; Antunes, MJOBJECTIVES: A very high percentage of patients submitted to coronary artery bypass grafting (CABG) develop symptomatic aortic disease requiring surgery upon ageing. The surgical risk of the redo procedure is controversial. We describe our recent experience with patients submitted to this surgery under such conditions. METHODS: From July 1999 to July 2010, 51 patients (mean age, 70.3 ± 7.0 years, 86.3% male) submitted to CABG previously required aortic valve surgery (AVS). The mean interval between the surgeries was 7.1 ± 3.9 years. Twenty-one patients (41.2%) had also undergone AVS during the first surgery [12 patients (57.7%) had valve replacement and 9 patients (42.8%) had valvuloplasty]. At presentation, 51.0% were in New York Heart Association Class III/IV and the standard and logistic EuroSCOREs were 10.1 ± 2.5 and 20.9 ± 16.5%, respectively. RESULTS: Aortic valve replacement was performed in 48 patients (94.1%). Two patients had undergone a surgery for the closure of a peri-prosthetic leak and one patient a valvuloplasty. Thirteen patients (25.5%) needed to undergo additional cardiac procedures, including root enlargement (three patients, 5.9%). Valve surgery was performed with non-dissection of the internal thoracic artery graft, when patented, and antegrade cardioplegic arrest of other territories. Hospital and 30-day mortality rate was 2% (n = 1). The mean duration of hospital stay was 13.0 ± 11.1 days. The most frequent complication was arrhythmias - in 25.5% of the patients, and mostly due to atrial fibrillation (19.6%). Permanent pacemaker for A-V block was required in 5.9% of the cases, stroke was documented in two cases (3.9%) and early re-intervention was observed in two cases. CONCLUSIONS: Redo AVS performed in patients submitted to CABG previously results in mortality and morbidity rates that are much lower than what is expected, bringing clear benefits to the patients.
- Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencingPublication . Fidalgo, T; Martinho, P; Pinto, CS; Oliveira, AC; Salvado, R; Borràs, N; Coucelo, M; Manco, L; Maia, T; Mendes, MJ; Del Orbe Barreto, R; Corrales, I; Vidal, F; Ribeiro, MLBACKGROUND: The 2 main forms of thrombotic microangiopathy (TMA) are thrombotic thrombocytopenic purpura (TTP) and atypical hemolytic uremic syndrome (aHUS). Deficiency of ADAMTS13 and dysregulation of the complement pathway result in TTP and aHUS, respectively; however, overlap of their clinical characteristics makes differential diagnosis challenging. OBJECTIVES AND METHODS: We aimed to develop a TMA diagnosis workflow based on ADAMTS13 activity and screening of ADAMTS13 and complement genes using a custom next-generation sequencing (NGS) gene panel. PATIENTS: For this, from a cohort of 154 Portuguese patients with acute TMA, the genotype-phenotype correlations were analyzed in 7 hereditary TTP (ADAMTS13 activity <10%, no inhibitor), 36 acquired TTP (ADAMTS13 activity <10%, presence of an inhibitor), and in 34 presumable aHUS. RESULTS: In total, 37 different rare variants, 8 of which novel (in ADAMTS13,CFH, and CD46), were identified across 7 genes. Thirteen TTP patients were homozygous (n=6), compound heterozygous (n=2), and heterozygous (n=5) for 11 ADAMTS13 variants (6 pathogenic mutations). Among the 34 aHUS patients, 17 were heterozygous for 23 variants in the different complement genes with distinct consequences, ranging from single pathogenic mutations associated with complete disease penetrance to benign variants that cause aHUS only when combined with other variants and/or CFH and CD46 risk haplotypes or CFHR1-3 deletion. CONCLUSIONS: Our study provides evidence of the usefulness of the NGS panel as an excellent technology that enables more rapid diagnosis of TMA, and is a valuable asset in clinical practice to discriminate between TTP and aHUS.
- Coronary artery bypass graft surgery during heart transplantationPublication . Pinto, CS; Prieto, D; Antunes, MJWe report the case of a patient who was submitted to coronary artery bypass graft surgery (CABG) during heart transplant as, during bench exploration, the donor heart presented a palpable atherosclerotic lesion in the anterior descending artery, not detected before harvesting. The patent internal thoracic artery from a previous CABG was used.
- Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese StudyPublication . Fidalgo, T; Martinho, P; Salvado, R; Manco, L; Oliveira, AC; Pinto, CS; Gonçalves, E; Marques, D; Sevivas, T; Martins, N; Ribeiro, MLINTRODUCTION: Inherited protein C (PC) deficiency is a well-known risk factor for venous thrombosis (VT). Plasma PC levels are reliable in moderate to severe deficiencies; however, in mildly deficient individuals, the levels may overlap with those considered normal. Genetic studies of PROC, which encodes PC, could help identify carriers; genome-wide association studies (GWAS) have shown that approximately 50% of phenotypic variation in PC deficiency is caused by the cumulative effects of mutations in several other loci, namely in the PROCR. PATIENTS AND METHODS: With the main objective of determining the genotype/phenotype correlation in 59 Portuguese individuals from 26 unrelated families with history of thrombosis and repeatedly low/borderline PC plasma levels, we conducted a molecular study by direct sequencing of PROC; PROC promoter haplotypes and PROCR c.4600A>G polymorphism (rs867186), which are known to influence plasma PC concentrations, were also screened. RESULTS: Twelve different PROC mutations were identified, one of them not previously reported, p.Cys105Arg. The mutation types and locations as well as haplotype combinations correlated with the phenotypic severity. The most frequent mutation, p.Arg199X, correlated with the CGTC haplotype and was identified in nine families containing patients with higher numbers of VT episodes. This mutation in homozygous individuals for the CGTC haplotype is a significant risk factor for VT in Portuguese. CONCLUSION: These genetic family studies allowed the identification of the unknown carriers and individuals at a higher thrombotic risk within each family, thus permitting the evaluation of the need for prophylactic measures, particularly in at-risk situations.
- New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndromePublication . Lopes, D; Gomes, AM; Cunha, C; Pinto, CS; Fidalgo, T; Fernandes, JCAtypical haemolytic uraemic syndrome (aHUS) is a rare, life-threatening, chronic, genetic disease due to uncontrolled alternative pathway complement activation. In this report, we discuss the case of a heterozygous carrier of a mutation on both factor H and membrane cofactor protein, who persistently presents haemolytic anaemia without need for blood transfusions, normal platelet count, normal renal function and no signs or symptoms of organ injury due to thrombotic microangiopathy 4 years after the diagnosis of aHUS.