An Incidental Finding of a Cardiac Sarcoma

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Beware of regression of electrocardiographic abnormalities on detraining – It may not always mean ‘athlete's heart’

Hypertrophic cardiomyopathy is one of the main causes of sudden cardiac death in young athletes. Differentiating between this pathological condition and ‘athlete's heart’ can be quite challenging, warranting a thorough clinical and imaging assessment. Clinicians often rely on detraining-induced attenuation of electrocardiographic and echocardiographic findings as a means of distinguishing between pathological and physiological cardiac remodeling. This report describes detraining-related regression of left ventricular hypertrophy in a young soccer player with a diagnosis of hypertrophic cardiomyopathy. It challenges the dogma that regression of electrocardiographic abnormalities and left ventricular hypertrophy is exclusive to physiological remodeling and questions the impact of exercise training in the phenotypic expression and progression of hypertrophic cardiomyopathy.publishersversionpublishe

A água no Convento da Arrábida

Simpósio internacional realizado no Convento da Arrábida, 15-17 de Novembro de 1993É descrita, de modo sumário, a história do Convento da Arrábida desde a sua fundação, em 1539 por frades franciscanos, inicialmente instalados no chamado Convento Velho, que veio a ser substituído pelo Convento Novo, começado em 1542 e localizado nas proximidades. A leste deste último foi construído, entre 1638 e 1729, o Santuário do Bom Jesus. O Convento Novo situa-se a meio da encosta sul da serra da Arrábida, com forte declive, o que condicionou a disposição em socalcos e a arquitectura dos edifícios. A zona possui denso coberto vegetal do tipo mediterrânico. Os calcários carsificados e muito fissurados da serra da Arrábida e a baixa precipitação explicam a escassez de água superficial, o que obrigou à captação subterrânea, mediante extensas galerias de minas. A água assim captada era conduzida para os locais de utilização no Convento Novo, ao longo de caleiras. em geral, a céu aberto, e de condutas verticais e sub-verticais, nos trechos que vencem os desníveis dos socalcos. Existia ainda a captação de uma nascente, denominada Fonte da Samaritana. A água destinava-se essencialmente à utilização doméstica e ao abastecimento de fontanários. A água sobrante e parte da residual era conduzida para tanques que alimentavam o sistema de rega do horto. A água para alimentação do Bom Jesus, utilizada sobretudo na rega de jardins, exigia menor garantia de fornecimento, pelo que foi obtida do escoamento superficial, captado por duas valas e armazenado numa cisterna. A escassez de água no local determinou o seu aproveitamento racional e integrado.The history of the Arrábida convent is briefty described since its foundation in 1539 by franciscan Friars who initialy settled the old convent (Convento Velho) which was later substituted by the present convent in 1542 (Convento Novo). The Bom Jesus Shrine was built between 1639 and 1729. The new convent is situated half-way up the southern hillside of the Arrábida mountain. Its steep slope demanded a step arrangement and influenced the architecture of the convent The region is covered by a hight density mediterranian vegetation. The very fissured and cavernous limestones of this mountain and the low rainfall result in scarcity of superficial water and in the necessity of searching for underground water sources by means of long mine galleries. The collected water was drained to the convent mostly through open channels and vertical anel sub-vertical pipes to overcome the steps. There was also lhe Samaritana spring. Theses waters was mainly used as domestic and fountain supply. The remaining water and lhe wastewater were drained into tanks and used for garden irrigation. The water which supplied the Bom Jesus Shrine was used above all for garden irrigation for which regularity of supply was less important. Therefore the water was obtained from the runnoff colected by two ditches and stored in a cistern. The lack of water in the area enforced its rational and integrated management

insights from an echo and cardiovascular magnetic resonance study of patients referred for surgical aortic valve replacement

AIMS: This study aims to assess the prevalence of relative apical sparing pattern (RASP) in patients with severe symptomatic aortic stenosis (AS), referred for surgical aortic valve replacement (AVR), to evaluate its significance, possible relation to amyloid deposition, and persistence after surgery. METHODS AND RESULTS: Prospective study of 150 consecutive patients [age 73 (interquartile range: 68-77), 51% women], with severe symptomatic AS referred to surgical AVR. All patients underwent cardiac magnetic resonance (CMR) before surgery. RASP was defined by [average apical longitudinal strain (LS)/(average basal LS + average mid LS)] > 1 by echocardiography. AVR was performed in 119 (79.3%) patients. Both Congo red and sodium sulphate-Alcian blue (SAB) stain were used to exclude amyloid on septal myocardial biopsy. LV remodelling and tissue characterization parameters were compared in patients with and without RASP. Deformation pattern was re-assessed at 3-6 months after AVR.RASP was present in 23 patients (15.3%). There was no suspicion of amyloid at pre-operative CMR [native T1 value 1053 ms (1025-1076 ms); extracellular volume (ECV) 28% (25-30%)]. None of the patients had amyloid deposition at histopathology. Patients with RASP had significantly higher pre-operative LV mass and increased septal wall thickness. They also had higher N-terminal pro b-type natriuretic peptide (NT-proBNP) levels [1564 (766-3318) vs. 548 (221-1440) pg/mL, P = 0.010], lower LV ejection fraction (53.7 ± 10.5 vs. 60.5 ± 10.2%, P = 0.005), and higher absolute late gadolinium enhancement (LGE) mass [9.7 (5.4-14.1) vs. 4.8 (1.9-8.6) g, P = 0.016] at CMR. Follow-up evaluation after AVR revealed RASP disappearance in all except two of the patients. CONCLUSION: RASP is not specific of cardiac amyloidosis. It may also be found in severe symptomatic AS without amyloidosis, reflecting advanced LV disease, being mostly reversible after surgery.publishersversionepub_ahead_of_prin

On the contribution of Angola to the initial spread of HIV-1

Licenced under CC-BY-NC-NDAngola borders and has long-term links with Democratic Republic of Congo (DRC) as well as high levels of Human Immunodeficiency Virus (HIV) genetic diversity, indicating a potential role in the initial spread of the HIV-1 pandemic. Herein, we analyze 564 C2V3 and 354 pol publicly available sequences from DRC, Republic of Congo (RC) and Angola to better understand the initial spread of the virus in this region. Phylogeographic analyses were performed with the BEAST software. While our results pinpoint the origin of the pandemic to Kinshasa (DRC) around 1906, the introduction of HIV-1 to Angola could have occurred early between the 1910s and 1940s. Furthermore, most of the HIV-1 migrations out of Kinshasa were directed not only to Lubumbashi and Mbuji-Mayi (DRC), but also to Luanda and Brazzaville. Kinshasa census records corroborate these findings, indicating that the early exportation of the virus to Angola might be related to the high number of Angolans in Kinshasa at that time, originated mostly from the North of Angola. In summary, our results place Angola at the epicenter of the early HIV dissemination, together with DRC and RC.info:eu-repo/semantics/publishedVersio

Eight years of experience

Copyright © 2017 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.INTRODUCTION: Aortic stenosis is the most prevalent type of valvular disease in Europe. Surgical aortic valve replacement (SAVR) is the standard therapy, while transcatheter aortic valve implantation (TAVI) is an alternative in patients at unacceptably high surgical risk. Assessment by a heart team is recommended by the guidelines but there is little published evidence on this subject. The purpose of this paper is to describe the experience of a multidisciplinary TAVI program that began in 2008. METHODS: The heart team prospectively assessed 473 patients using a standardized approach. A total of 214 patients were selected for TAVI and 80 for SAVR. Demographic, clinical and procedural characteristics and long-term success rates were compared between the groups. RESULTS: TAVI patients were older than the SAVR group (median 83 vs. 81 years), and had higher surgical risk scores (median EuroSCORE II 5.3 vs. 3.6% and Society of Thoracic Surgeons score 5.1 vs. 3.1%), as did the patients under medical treatment only. These scores were unable to assess multiple comorbidities. Patients' outcomes were different between the three groups (mortality with SAVR 25% vs. TAVI 37.6% vs. conservative therapy 57.6%, p=0.001). CONCLUSIONS: The heart team program was able to select candidates appropriately for TAVI, SAVR and conservative treatment, taking into account the risk of both invasive treatments. The use of a prospective standardized heart team approach is recommended, but requires continuous monitoring to ensure effectiveness in a timely manner.publishersversionpublishe

Case report: Mutation in NPPA gene as a cause of fibrotic atrial myopathy

Early-onset atrial fibrillation (AF) can be the manifestation of a genetic atrial myopathy. However, specific genetic identification of a mutation causing atrial fibrosis is rare. We report a case of a young patient with an asymptomatic AF, diagnosed during a routine examination. The cardiac MRI revealed extensive atrial fibrosis and the electrophysiology study showed extensive areas of low voltage. The genetic investigation identified a homozygous pathogenic variant in the NPPA gene in the index case and the presence of the variant in heterozygosity in both parents

Uncommon acquired Gerbode defect following extensive bicuspid aortic valve endocarditis

Gerbode defect is a rare type of left ventricle to right atrium shunt. It is usually congenital in origin, but acquired cases are also described, mainly following infective endocarditis, valve replacement, trauma or acute myocardial infarction. We report a case of a 50-year-old man who suffered an extensive and complex infective endocarditis involving a bicuspid aortic valve, the mitral-aortic intervalvular fibrosa and the anterior leaflet of the mitral valve. After dual valve replacement and annular reconstruction, a shunt between the left ventricle and the right atrium - Gerbode defect, and a severe leak of the mitral prosthesis were detected. Reintervention was performed with successful shunt closure with an autologous pericardial patch and paravalvular leak correction. No major complications occurred denying the immediate post-surgery period and the follow-up at the first year was uneventful

Integration of sequence data from a consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene

Integrating genetic data from families with highly penetrant forms of disease together with genetic data from outbred populations represents a promising strategy to uncover the complete frequency spectrum of risk alleles for complex traits such as rheumatoid arthritis (RA). Here, we demonstrate that rare, low-frequency and common alleles at one gene locus, phospholipase B1 (PLB1), might contribute to risk of RA in a 4-generation consanguineous pedigree (Middle Eastern ancestry) and also in unrelated individuals from the general population (European ancestry). Through identity-by-descent (IBD) mapping and whole-exome sequencing, we identified a non-synonymous c.2263G>C (p.G755R) mutation at the PLB1 gene on 2q23, which significantly co-segregated with RA in family members with a dominant mode of inheritance (P = 0.009). We further evaluated PLB1 variants and risk of RA using a GWAS meta-analysis of 8,875 RA cases and 29,367 controls of European ancestry. We identified significant contributions of two independent non-coding variants near PLB1 with risk of RA (rs116018341 [MAF = 0.042] and rs116541814 [MAF = 0.021], combined P = 3.2×10-6). Finally, we performed deep exon sequencing of PLB1 in 1,088 RA cases and 1,088 controls (European ancestry), and identified suggestive dispersion of rare protein-coding variant frequencies between cases and controls (P = 0.049 for C-alpha test and P = 0.055 for SKAT). Together, these data suggest that PLB1 is a candidate risk gene for RA. Future studies to characterize the full spectrum of genetic risk in the PLB1 genetic locus are warranted. © 2014 Plenge et al