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1.
Circ Genom Precis Med ; 17(2): e004301, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38415367

RESUMO

Dilated cardiomyopathy (DCM) is a common heart muscle disorder of nonischemic etiology associated with heart failure development and the risk of malignant ventricular arrhythmias and sudden cardiac death. A tailored approach to risk stratification and prevention of sudden cardiac death is required in genetic DCM given its variable presentation and phenotypic severity. Currently, advances in cardiogenetics have shed light on disease mechanisms, the complex genetic architecture of DCM, polygenic contributors to disease susceptibility and the role of environmental triggers. Parallel advances in imaging have also enhanced disease recognition and the identification of the wide spectrum of phenotypes falling under the DCM umbrella. Genotype-phenotype associations have been also established for specific subtypes of DCM, such as DSP (desmoplakin) or FLNC (filamin-C) cardiomyopathy but overall, they remain elusive and not readily identifiable. Also, despite the accumulated knowledge on disease mechanisms, certain aspects remain still unclear, such as which patients with DCM are at risk for disease progression or remission after treatment. Imagenetics, that is, the combination of imaging and genetics, is expected to further advance research in the field and contribute to precision medicine in DCM management and treatment. In the present article, we review the existing literature in the field, summarize the established knowledge and emerging data on the value of genetics and imaging in establishing genotype-phenotype associations in DCM and in clinical decision making for DCM patients.


Assuntos
Cardiomiopatia Dilatada , Humanos , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/genética , Cardiomiopatia Dilatada/terapia , Medicina de Precisão/métodos , Morte Súbita Cardíaca/etiologia , Arritmias Cardíacas/genética , Estudos de Associação Genética
2.
Heart Fail Rev ; 28(4): 865-878, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36872393

RESUMO

Risk stratification for sudden cardiac death in dilated cardiomyopathy is a field of constant debate, and the currently proposed criteria have been widely questioned due to their low positive and negative predictive value. In this study, we conducted a systematic review of the literature utilizing the PubMed and Cochrane library platforms, in order to gain insight about dilated cardiomyopathy and its arrhythmic risk stratification utilizing noninvasive risk markers derived mainly from 24 h electrocardiographic monitoring. The obtained articles were reviewed in order to register the various electrocardiographic noninvasive risk factors used, their prevalence, and their prognostic significance in dilated cardiomyopathy. Premature ventricular complexes, nonsustained ventricular tachycardia, late potentials on Signal averaged electrocardiography, T wave alternans, heart rate variability and deceleration capacity of the heart rate, all have both some positive and negative predictive value to identify patients in higher likelihood for ventricular arrhythmias and sudden cardiac death. Corrected QT, QT dispersion, and turbulence slope-turbulence onset of heart rate have yet to establish a predictive correlation in the literature. Although ambulatory electrocardiographic monitoring is frequently used in clinical practice in DCM patients, no single risk marker can be used for the selection of patients at high-risk for malignant ventricular arrhythmic events and sudden cardiac death who could benefit from the implantation of a defibrillator. More studies are needed in order to establish a risk score or a combination of risk factors with the purpose of selecting high-risk patients for ICD implantation in the context of primary prevention.


Assuntos
Cardiomiopatia Dilatada , Eletrocardiografia Ambulatorial , Humanos , Eletrocardiografia Ambulatorial/efeitos adversos , Cardiomiopatia Dilatada/complicações , Eletrocardiografia , Morte Súbita Cardíaca/epidemiologia , Morte Súbita Cardíaca/etiologia , Morte Súbita Cardíaca/prevenção & controle , Arritmias Cardíacas/complicações , Fatores de Risco , Prognóstico
3.
Clin Cardiol ; 45(5): 503-508, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35301726

RESUMO

BACKGROUND: Force-time integral (FTI) is an ablation marker of lesion quality and transmurality. A target FTI of 400 gram-seconds (gs) has been shown to improve durability of pulmonary vein isolation, following atrial fibrillation ablation. However, relevant targets for cavotricuspid isthmus (CTI) ablation are lacking. HYPOTHESIS: We sought to investigate whether CTI ablation with 600 gs FTI lesions is associated with reduced rate of transisthmus conduction recovery compared to 400 gs lesions. METHODS: Fifty patients with CTI-dependent flutter were randomized to ablation using 400 gs (FTI400 group, n = 26) or 600 gs FTI lesions (FTI600 group, n = 24). The study endpoint was spontaneous or adenosine-mediated recovery of transisthmus conduction, after a 20-min waiting period. RESULTS: The study endpoint occurred in five patients (19.2%) in group FTI400 and in four patients (16.7%) in group FTI600, p = .81. First-pass CTI block was similar in both groups (50% in FTI400 vs. 54.2% in FTI600, p = .77). There were no differences in the total number of lesions, total ablation time, procedure time and fluoroscopy duration between the two groups. There were no major complications in any group. In the total population, patients not achieving first-pass CTI block had significantly higher rate of acute CTI conduction recovery, compared to those with first-pass block (29.2% vs. 7.7% respectively, p = .048). CONCLUSIONS: CTI ablation using 600 gs FTI lesions is not associated with reduced spontaneous or adenosine-mediated recurrence of transisthmus conduction, compared to 400 gs lesions.


Assuntos
Flutter Atrial , Ablação por Cateter , Veias Pulmonares , Adenosina , Flutter Atrial/diagnóstico , Flutter Atrial/etiologia , Flutter Atrial/cirurgia , Ablação por Cateter/efeitos adversos , Ablação por Cateter/métodos , Humanos , Veias Pulmonares/cirurgia , Resultado do Tratamento , Valva Tricúspide/diagnóstico por imagem , Valva Tricúspide/cirurgia
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