RESUMO
BACKGROUND: Familial hypercholesterolaemia (FH) is underdiagnosed in most countries. We report our first experience from a national pilot project of cascade screening in relatives of FH patients. METHODOLOGY: Participating specialists recruited consecutive index patients (IP) with Dutch Lipid Clinic Network (DLCN) score ≥6. After informed consent, the relatives were visited by the nurses to collect relevant clinical data and perform blood sampling for lipid profile measurement. FH diagnosis in the relatives was based on the DLCN and/or MEDPED FH (Make-Early-Diagnosis-to-Prevent-Early-Deaths-in-FH) criteria. RESULTS: In a period of 18 months, a total of 127 IP (90 with definite FH and 37 with probable FH) were enrolled in 15 centres. Out of the 270 relatives visited by the nurses, 105 were suspected of having FH: 31 with DCLN score >8, 33 with DLCN score 5-8 and 41 with MEDPED FH criteria. In a post-hoc analysis, another set of MEDPED FH criteria established in the Netherlands and adapted to Belgium allowed to detect FH in 51 additional relatives. CONCLUSION: In a country with no national FH screening program, our pilot project demonstrated that implementing a simple phenotypical FH cascade screening strategy using the collaboration of motivated specialists and two nurses, allowed to diagnose FH in 127 index patients and an additional 105 of their relatives over the two-year period. Newly developed MEDPED FH cut-offs, easily applicable by a nurse with a single blood sample, might further improve the sensitivity of detecting FH within families.
Assuntos
Hiperlipoproteinemia Tipo II , Bélgica/epidemiologia , LDL-Colesterol , Estudos de Viabilidade , Humanos , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/epidemiologia , Hiperlipoproteinemia Tipo II/genética , Mutação , Projetos PilotoRESUMO
Objective and importance: The antiphospholipid syndrome can manifest itself by silent (or not) myocardial infarction. Clinical presentation: We report the case of a 16-year-old girl who presented a myocardial infarction for whom a coronary-computer tomography did not reveal any coronary abnormalities or obstruction. She had a livedo reticularis on her physical exam. Intervention: The echocardiography showed a normal left ventricular function and a mild eccentric mitral regurgitation. A myocardial magnetic resonance imaging demonstrated transmural necrosis with microvascular obstruction at the inferobasal segment of the left ventricle, suggestive of a microvascular myocardial infarction. The blood test showed elevation of the three antiphospholipid antibodies (lupus anticoagulant, anticardiolipin, and anti-ß2-glycoprotein). The lupus anticoagulant remained positive 12 weeks later, fulfilling the laboratory criteria for antiphospolipid carrier. The associated presence of this microvascular coronary obstruction was strongly suggestive of antiphospholipd syndrome, according to the revised Sapporo criteria. To our knowledge, this is the first reported case of antiphospholipid syndrome manifesting as an acute microvascular myocardial infarction, confirmed by myocardial magnetic resonance imaging. Conclusion: The antiphospholipid syndrome can manifest itself early by a microvascular myocardial infarction. The clinician has to be alerted by a livedo reticularis in these patients, which will be frequently associated with manifestations of antiphospholipid syndrome such as arterial thrombosis and valvulopathies.
Assuntos
Síndrome Antifosfolipídica/diagnóstico , Infarto do Miocárdio/diagnóstico , Adolescente , Síndrome Antifosfolipídica/complicações , Feminino , Humanos , Livedo Reticular/diagnóstico , Livedo Reticular/etiologia , Angina Microvascular/diagnóstico , Angina Microvascular/etiologia , Infarto do Miocárdio/diagnóstico por imagem , Infarto do Miocárdio/etiologiaRESUMO
Pulmonary hypertension (PH) is defined by a sustained increase in mean pulmonary arterial pressure > 25 mmHg. Due to its widespread availability, echocardiography (ECHO) is used as the first-line imaging modality to detect pulmonary PH and assess right ventricular (RV) function in daily routine. As such, ECHO is the key examination to detect the presence of PH, to provide valuable prognostic information and to give an orientation to therapeutic strategies. In addition to detection and screening, ECHO also provides clues for the differential diagnosis of PH. The present document, based on a consensus of experts, provides practical recommendations for the use of ECHO in the evaluation of PH and of its consequences on the right ventricle.
Assuntos
Ecocardiografia , Hipertensão Pulmonar/diagnóstico por imagem , Hipertensão Pulmonar Primária Familiar , HumanosRESUMO
BACKGROUND: Myeloperoxidase (MPO) has emerged as a critical mediator in the physiopathology of atherosclerosis from plaque formation and growth until destabilization and rupture leading to acute coronary syndrome (ACS). Using coronary stenting as a model of plaque injury, we aimed to determine the evolution of systemic MPO levels following coronary stenting in stable angina patients and in patients with acute myocardial infarction (AMI). METHODS: Plasma levels of MPO, lactoferrin, interleukin (IL)-6, C-reactive protein and PMN counts were assessed in 13 patients with Non-ST-elevation myocardial infarction (NSTEMI) (Group A) and in 29 patients with stable angina pectoris (Group B), undergoing coronary stenting. Serial blood samples were taken before angioplasty (baseline) and at 1, 6 and 24 h following initial balloon inflation. RESULTS: Following angioplasty, the overall plasma MPO levels significantly increased at 1 h in group B (120.5+/-79.0 to 166+/-79.5, p=0.003) but not in group A (121+/-63.4 to 124.7+/-76.9, p=0.753). In Group B, the increase in MPO levels at 1 h were significantly higher in the presence of complex lesions compared to patients with simple lesions (p=0.023). Lactoferrin levels showed no change over time except for a significant decrease at 6 h in group B. CONCLUSIONS: In stable angina patients, coronary stenting is associated with an acute and transient increase in plasma MPO levels, but not in lactoferrin levels, with an enhanced response in the presence of complex lesions. In contrast, we observed no changes in plasma MPO and lactoferrin levels following stenting in patients with AMI. Given its pro-inflammatory properties, the potential implication of MPO release on clinical outcome in stable patients undergoing stenting needs further investigation.
Assuntos
Angina Pectoris/enzimologia , Angioplastia Coronária com Balão , Infarto do Miocárdio/enzimologia , Peroxidase/sangue , Stents , Adulto , Idoso , Angina Pectoris/terapia , Biomarcadores/sangue , Proteína C-Reativa/metabolismo , Estudos de Coortes , Feminino , Humanos , Interleucina-6/sangue , Lactoferrina/sangue , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/terapia , Ativação de Neutrófilo/fisiologia , Fatores de TempoRESUMO
Left ventricular (LV) to right atrial (RA) communication, also known as Gerbode defect, is very rare, usually congenital but sometimes also acquired. Cases of Gerbode defect have been reported after left valve surgery, usually valve replacement. We describe the first case of LV-RA communication following a tricuspid annuloplasty not combined to a left valve surgery. The case we report concerns a 73-year-old woman who underwent a double-valve surgery (pulmonary valve replacement and tricuspid annuloplasty) for symptomatic severe right heart failure due to post-endocarditis pulmonary valve regurgitation. A LV-RA shunt was discovered 1 year after surgery. This case report confirms the responsibility of a tricuspid annuloplasty in an acquired LV-RA shunt.
Assuntos
Defeitos dos Septos Cardíacos/diagnóstico por imagem , Complicações Pós-Operatórias/diagnóstico por imagem , Insuficiência da Valva Tricúspide/cirurgia , Valva Tricúspide/cirurgia , Idoso , Velocidade do Fluxo Sanguíneo , Ecocardiografia Doppler em Cores , Ecocardiografia Transesofagiana , Feminino , Defeitos dos Septos Cardíacos/etiologia , Humanos , Sopros Sistólicos , Valva Tricúspide/diagnóstico por imagemRESUMO
In this report, we present the case of a patient with hemodynamically significant thrombosis of a mitral bioprosthesis occurring 11 years after valve replacement. The diagnosis was suspected on the basis of a subacute increase in the transvalvular gradient seen on transthoracic echocardiography and was con- firmed by transesophageal echocardiography which disclosed unusual features. A hypercoagulable work up showed raised plasma factor VIII levels. The patient was successfully managed with oral anticoagulation.
Assuntos
Anticoagulantes/uso terapêutico , Bioprótese/efeitos adversos , Próteses Valvulares Cardíacas/efeitos adversos , Valva Mitral , Trombose/tratamento farmacológico , Idoso , Feminino , Humanos , Trombose/diagnóstico por imagem , Trombose/etiologia , UltrassonografiaRESUMO
Cardiac resynchronization therapy (CRT) decreases muscle sympathetic nerve activity (MSNA) in patients with severe congestive heart failure (CHF) and cardiac asynchrony. Whether this affects equally patients who clinically respond or not to CRT is unknown. We tested the hypothesis that the favorable effects of CRT on MSNA disappear on CRT interruption only in those who respond to CRT. Twenty-three consecutive CHF patients participated in the study, among whom 16 presented a symptomatic improvement by one or more New York Heart Association (NYHA) functional classes 15 +/- 5 mo after CRT (responders), and seven had not improved after 12 +/- 4 mo of CRT (nonresponders). MSNA and echocardiographic recordings were obtained in random order during atrio-right ventricular pacing (ARV), without stimulation in patients who were not pacemaker dependent (OFF, n = 17), and during atrio-biventricular pacing (BIV). Responders had a longer 6-min walking distance, a lower NYHA class and brain natriuretic peptide levels, and a better quality of life than did nonresponders (all P < 0.05). MSNA increased by 25 +/- 7% in the responders, whereas it remained unchanged in the nonresponders, when shifting from the BIV mode to a nonsynchronous condition (ARV and OFF modes) (P < 0.01). Cardiac output decreased by 0.7 +/- 0.2 l/min in the responders but did not change when shifting from the BIV mode to the nonsynchronous pacing mode in the nonresponders (P < 0.01). In conclusion, reversible sympathoinhibition is a marker of the clinical response to CRT.