Assuntos
Rejeição de Enxerto/diagnóstico por imagem , Transplante de Coração/efeitos adversos , Imagem de Perfusão do Miocárdio , Tomografia Computadorizada por Raios X , Adulto , Biópsia , Estudos de Casos e Controles , Estudos de Viabilidade , Feminino , Rejeição de Enxerto/etiologia , Rejeição de Enxerto/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Valor Preditivo dos Testes , Vasodilatadores/administração & dosagemRESUMO
BACKGROUND: Mutations of the SCN5A gene are reported in 2-4% of patients with dilated cardiomyopathy (DCM). In such cases, DCM is associated with different rhythm disturbances such as the multifocal ectopic Purkinje-related premature contractions and atrial fibrillation. Arrhythmia often occurs at a young age and is the first symptom of heart disease. CASE PRESENTATION: We present the case of 55-year old male with a 30-year history of heart failure (HF) in the course of familial DCM and complex ventricular tachyarrhythmias, which constituted 50-80% of the whole rhythm. The patient was qualified for heart transplantation because of the increasing symptoms of HF. We revealed the heterozygotic R222Q mutation in SCN5A by means of whole exome sequencing. After the quinidine treatment, a rapid and significant reduction of ventricular tachyarrhythmias and an improvement in the myocardial function were observed and this effect remained constant in the 2.5-year follow-up. This effect was observed even in the presence of concomitant coronary artery disease. CONCLUSIONS: Patients with familial DCM and Purkinje-related ventricular arrhythmias should be offered genetic screening. The quinidine treatment for the SCN5A R222Q mutation can be life saving for patients.
Assuntos
Antiarrítmicos/uso terapêutico , Cardiomiopatia Dilatada/genética , Mutação , Canal de Sódio Disparado por Voltagem NAV1.5/genética , Ramos Subendocárdicos/patologia , Quinidina/uso terapêutico , Taquicardia Ventricular/genética , Adulto , Cardiomiopatia Dilatada/tratamento farmacológico , Cardiomiopatia Dilatada/patologia , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Prognóstico , Taquicardia Ventricular/tratamento farmacológico , Taquicardia Ventricular/patologia , Adulto JovemRESUMO
BACKGROUND The aim of this study was to find the main risk factors for development of cardiac allograft vasculopathy (CAV), especially factors identified before the surgical procedure and factors related to the recipient profile and the medical history of the donor. MATERIAL AND METHODS There were 147 patients who had heart transplantation (HT) included in this study: mean age was 45.8±15.3 years. All study patients had coronary angiography after HT. Analyzed risk factors were: non-immunologic recipient risk factors (age of transplantation, smoking, hypertension, lipids, diabetes, obesity and weight gain after HT), immunologic recipient risk factors (acute cellular rejection (ACR), acute humoral rejection (AMR), cytomegalovirus (CMV) episodes), and donor-related risk factors (age, sex, catecholamine usage, ischemic time, compatibility of sex and blood groups, cause of death, cardiac arrest). RESULTS CAV was recognized in 48 patients (CAV group); mean age 53.6±13.6 years. There were 99 patients without CAV (nonCAV group); mean age 48.3±15.5 years. A univariate Cox analysis of the development of coronary disease showed statistical significance (p<0.05) for baseline high-density lipid (HDL), ACR, AMR, CMV, and donor age. Multivariate Cox regression model confirmed that only baseline HDL, episodes of ACR, donor age, and CMV infection are significant for the frequency of CAV after HT. CONCLUSIONS Older donor age is highly associated with CAV development. Older donor age and low level of HDL in heart recipients with the strongest influence of immunologic risk factors (ACR, CMV infection) were linked with development of CAV.
