Arrhythmogenic Cardiomyopathy
Tóm tắt
Arrhythmogenic cardiomyopathy is an inherited heart muscle disorder, predisposing to sudden cardiac death, particularly in young patients and athletes. Pathological features include loss of myocytes and fibrofatty replacement of right ventricular myocardium; biventricular involvement is often observed. It is a cell-to-cell junction cardiomyopathy, typically caused by genetically determined abnormalities of cardiac desmosomes, which leads to detachment of myocytes and alteration of intracellular signal transduction. The diagnosis of arrhythmogenic cardiomyopathy does not rely on a single gold standard test but is achieved using a scoring system, which encompasses familial and genetic factors, ECG abnormalities, arrhythmias, and structural/functional ventricular alterations. The main goal of treatment is the prevention of sudden cardiac death. Implantable cardioverter defibrillator is the only proven lifesaving therapy; however, it is associated with significant morbidity because of device-related complications and inappropriate implantable cardioverter defibrillator interventions. Selection of patients who are the best candidates for implantable cardioverter defibrillator implantation is one of the most challenging issues in the clinical management.
Từ khóa
Tài liệu tham khảo
Frank R, Fontaine G, Vedel J, Mialet G, Sol C, Guiraudon G, Grosgogeat Y. [Electrocardiology of 4 cases of right ventricular dysplasia inducing arrhythmia]. Arch Mal Coeur Vaiss. 1978;71:963–972.
UHL HS. A previously undescribed congenital malformation of the heart: almost total absence of the myocardium of the right ventricle. Bull Johns Hopkins Hosp. 1952;91:197–209.
Valente M, Calabrese F, Thiene G, Angelini A, Basso C, Nava A, Rossi L. In vivo evidence of apoptosis in arrhythmogenic right ventricular cardiomyopathy. Am J Pathol. 1998;152:479–484.
Chelko SP, Asimaki A, Andersen P, Bedja D, Amat-Alarcon N, DeMazumder D, Jasti R, MacRae CA, Leber R, Kleber AG, Saffitz JE, Judge DP. Central role for GSK3β in the pathogenesis of arrhythmogenic cardiomyopathy. JCI Insight. 2016;21;1. pii: e85923.
MacRae C, Taylor MRG, Mestroni L, Moses JR, Ashley EA, Wheeler MT, Lakdawala N, Hershberger RE, Praszynski M, Sandor V, Saunders ME, Oliver C, Lee PA, Judge DP. Phase 2 study of A797, an oral, selective p38 mitogen-activated protein kinase inhibitor, in patients with lamin A/C-related dilated cardiomyopathy. Eur Heart J. 2016;37(Abstract Supplement);1011; P4981.