RESUMO
Dilated cardiomyopathy (DCM) is one of the leading causes of heart failure with high morbidity and mortality. More than 40 genes have been reported to cause DCM. To provide new insights into the pathophysiology of dilated cardiomyopathy, a next-generation sequencing (NGS) workflow based on a panel of 48 cardiomyopathies-causing genes was used to analyze a cohort of 222 DCM patients. Truncating variants were detected on 63 unrelated DCM cases (28.4%). Most of them were identified, as expected, on TTN (29 DCM probands), but truncating variants were also identified on myofibrillar myopathies causing genes in 17 DCM patients (7.7% of the DCM cohort): 10 variations on FLNC and 7 variations on BAG3 . This study confirms that truncating variants on myofibrillar myopathies causing genes are frequently associated with dilated cardiomyopathies and also suggest that FLNC mutations could be considered as a common cause of dilated cardiomyopathy. Molecular approaches that would allow to detect systematically truncating variants in FLNC and BAG3 into genetic testing should significantly increase test sensitivity, thereby allowing earlier diagnosis and therapeutic intervention for many patients with dilated cardiomyopathy.
Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Reguladoras de Apoptose/genética , Cardiomiopatia Dilatada/diagnóstico , Conectina/genética , Filaminas/genética , Mutação , Miopatias Congênitas Estruturais/diagnóstico , Adulto , Cardiomiopatia Dilatada/genética , Cardiomiopatia Dilatada/mortalidade , Cardiomiopatia Dilatada/fisiopatologia , Estudos de Coortes , Feminino , França , Expressão Gênica , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Miopatias Congênitas Estruturais/genética , Miopatias Congênitas Estruturais/mortalidade , Miopatias Congênitas Estruturais/fisiopatologia , Linhagem , Análise de SobrevidaRESUMO
INTRODUCTION: The incidence of pacemaker-mediated tachycardia (PMT) varies as a function of patient characteristics, device programming and algorithm specificities. We investigated the efficacy of the Boston Scientific algorithm by reviewing PMT episodes in a large device population. METHODS: In this multicenter study, we included 328 patients implanted with a Boston Scientific device: 157 non-dependent patients with RYTHMIQ™ activated (RYTHMIQ group), 76 patients with permanent AV-conduction disorder (AV-block group) and 95 Cardiac Resynchronization Therapy patients (CRT group). For each patient, we reviewed the last 10 remote monitoring-transmitted EGMs diagnosed as PMT. RESULTS: We analyzed 784 PMT episodes across 118 patients. In the RYTHMIQ group, the diagnosis of PMT was correct in most episodes (80%) of which 69% was directly related to the prolongation of the AV-delay associated with the RYTHMIQ algorithm. The usual triggers for PMT were also observed (PVC 16%, PAC 9%). The remainder of the episodes (20%) in RYTHMIQ patients and most episodes of AV-block (66%) and CRT patients (74%) were incorrectly diagnosed as PMT during sinus tachycardia at the maximal tracking rate. The inappropriate intervention of the algorithm during exercise causes non-conducted P-waves, loss of CRT (sustained in six patients) and may have been pro-arrhythmogenic in one patient (induction of ventricular tachycardia). CONCLUSION: Algorithms to minimize ventricular pacing can occasionally have unintended consequences such as PMT. The PMT algorithm in Boston Scientific devices is associated with a high rate of incorrect PMT diagnosis during exercise resulting in inappropriate therapy with non-conducted P-waves, loss of CRT and limited risk of pro-arrhythmic events.
Assuntos
Algoritmos , Diagnóstico por Computador/instrumentação , Eletrocardiografia/instrumentação , Marca-Passo Artificial/estatística & dados numéricos , Taquicardia Ventricular/epidemiologia , Taquicardia Ventricular/prevenção & controle , Terapia Assistida por Computador/instrumentação , Adulto , Idoso , Idoso de 80 Anos ou mais , Diagnóstico por Computador/estatística & dados numéricos , Eletrocardiografia/estatística & dados numéricos , Desenho de Equipamento , Análise de Falha de Equipamento , Feminino , França/epidemiologia , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Terapia Assistida por Computador/estatística & dados numéricos , Adulto JovemAssuntos
Anticoagulantes/administração & dosagem , Anticoagulantes/efeitos adversos , Apêndice Atrial/cirurgia , Fibrilação Atrial/cirurgia , Cardiopatias/prevenção & controle , Hematúria/induzido quimicamente , Próteses e Implantes , Trombose/prevenção & controle , Suspensão de Tratamento , Idoso , Fibrilação Atrial/complicações , Cardiopatias/etiologia , Humanos , Masculino , Trombose/etiologiaRESUMO
Spontaneous coronary artery dissection (SCAD) is a rare pathology, principally affecting young women free of atheroma risk factors. Its physiopathology remains little understood, and the prognosis for such acute coronary syndromes is poor, as they occur suddenly. Management is often difficult, and no guidelines exist. The present single-center retrospective study concerns 12 cases of SCAD occurring between 2001 and 2008 in female patients under the age of 60. Eleven patients survived, with a favorable long-term evolution. Only 2 had conservative medical therapy, the other 10 undergoing percutaneous coronary intervention (2 procedures involving a coronary artery bypass graft). On the basis of this series and data from the literature, we suggest a strategy to improve the often dire prognosis of SCAD. Emergency angiography to confirm diagnosis is essential. Treatment should be guided by the extent of the lesions, the myocardial ischemia and the hemodynamic status. Conservative medical therapy is a reasonable approach in the case of distal dissection or conserved coronary flow. Percutaneous coronary intervention is feasible in the acute phase to restore coronary perfusion and hemodynamic stability. Surgery - emergency bypass or assisted circulation - should be restricted to cases where percutaneous coronary intervention has failed or is impossible.
Assuntos
Síndrome Coronariana Aguda/terapia , Dissecção Aórtica/terapia , Aneurisma Coronário/terapia , Doença da Artéria Coronariana/terapia , Síndrome Coronariana Aguda/diagnóstico , Síndrome Coronariana Aguda/etiologia , Adulto , Dissecção Aórtica/complicações , Dissecção Aórtica/diagnóstico , Aneurisma Coronário/complicações , Aneurisma Coronário/diagnóstico , Doença da Artéria Coronariana/complicações , Doença da Artéria Coronariana/diagnóstico , Feminino , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos , Ruptura Espontânea/diagnóstico , Ruptura Espontânea/etiologia , Ruptura Espontânea/terapiaRESUMO
Regular physical exercice has undeniable cardiovascular benefits and improves life expectancy. This benefice seems limited to moderate intensity exercises. Intense and chronic physical exercice would lead to heart structural changes. For a long time, knowledge of these cardiac effects seemed limited to the left ventricle. Since more authors have shown that right ventricle is vulnerability to the effects of intense chronic training. We report a Gallavardin-type ventricular stress tachycardia in a young with healthy hearted; in whom a right infundibular arrhythmogenic focus has been found in the absence of structural alteration of the right ventricle. Intense athletic activity may reveal a latent arrhythmogenic focus through sympathetic activation. Ablation was the preferred therapeutic strategy, preferred to drug therapy and derived from an analysis of risk-benefit ratios.
Assuntos
Esportes/fisiologia , Taquicardia Ventricular/fisiopatologia , Adulto , Arritmias Cardíacas/diagnóstico , Eletrocardiografia , Teste de Esforço , Feminino , HumanosRESUMO
Progress in the medical management of patients with heart failure with systolic dysfunction has been accompanied by a significant improvement in survival and quality of life. These strategies have also resulted in changes in the clinical profile as well as an increase in the number of patients with advanced heart failure. The technological developments in left ventricular assist devices provide real hope for these patients. This article related our experience of management and the rehabilitation program realized.
Assuntos
Insuficiência Cardíaca/terapia , Coração Auxiliar , Adulto , Idoso , Feminino , Insuficiência Cardíaca/reabilitação , Humanos , Masculino , Pessoa de Meia-Idade , Desenho de PróteseRESUMO
A 60-year-old male presented a myocardial infarction after a voluntary overdose of Asasantine(®) started after strokes. He took chronically this association and some psychotropic drugs with vasodilator effects. After an intake of 40 tablets, he presented a cardiogenic shock with a myocardial infarction confirmed by biological samples, EKG, echocardiography and angiocoronarographie. No recent change of his treatment was found and symptoms regressed when dipyridamole was stopped while other vasodilators drugs were continued. Chronological analysis of events led us to suspect dipyridamole as a starter of the myocardial infarction secondary to a coronary artery steal reinforced by the vasodilator effect of combined treatments, in a patient at risk of ischemia. This case shows that, in such particular conditions, a change in dipyridamole dosage can induce a myocardial infarction even if its blood level remains in the therapeutic range.
Assuntos
Aspirina/intoxicação , Dipiridamol/intoxicação , Infarto do Miocárdio/induzido quimicamente , Tentativa de Suicídio , Interações Medicamentosas , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Some pulmonary embolism may present electrocardiogram changes, which suggest the diagnosis of myocardial infarction. We report the case of a patient with such a confounding presentation. In this patient, the wrong diagnosis of myocardial infarction led to a primary coronarography which was normal and finally, echocardiogram gave us the key leading to a fibrinolitic treatment which improved the patient.