Effect of frequent ventricular ectopia on progression of dilated cardiomyopathy

Dilated cardiomyopathy (DCM) is the most common form of cardiomyopathy. Various conditions may result in DCM, most commonly ischemic heart disease, metabolic/infiltrative diseases and genetic disorders. There are approximately 50 different genes known that cause DCM. Most affected genes are TTN that encode titin. DCM may lead to various rhythmic disorders, especially sustained ventricular tachycardia and ventricular fibrillation. In this article we present a case of 61 years old patient with primary dilated cardiomyopathy who was addmited to our hospital due to acute heart failure. Earlier genetic analysis showed that patient has mutation for titin, protein that is responsible for passive elasticity of caridac smooth muscle cells. Due to two episodes of ventricular tachycarida the ablation was performed, after which implantable cardioverter-defibrillator (ICD) was inserted for primary prevention of further malignant ventricular tachyarrhythmias. Hemodynamic properties and poor left ventricular systolic function were corrected by using optimal medical therapy like eplerenone and sacubitril/valsartan. Patient has developed coronary heart disease and percutaneous coronary intervention was performed with stent implantation. Because of still present ventricular ectopic which lead to further myocardial dysfunction and progression of heart failure, additional ablation is needed. Dilated cardiomyopathy is important cause of heart failure and sudden cardiac death (SCD), especially in young individuals. It is of great importance to recognize and treat it adequately, and also to detect possible cause of it. Further investigetions should be done in order to improve treatment for heart failure that will enhance left ventricular systolic function

Sindrom dugog QT intervala: sustavni pregled

Congenital long QT syndrome (LQTS) is a disorder of myocardial repolarization defined by a prolonged QT interval on electrocardiogram (ECG) that can cause ventricular arrhythmias and lead to sudden cardiac death. LQTS was first described in 1957 and since then its genetic etiology has been researched in many studies, but it is still not fully understood. Depending on the type of monogenic mutation, LQTS is currently divided into 17 subtypes, with LQT1, LQT2, and LQT3 being the most common forms. Based on the results of a prospective study, it is suggested that the real prevalence of congenital LQTS is around 1:2000. Clinical manifestations of congenital LQTS include LQTS-attributable syncope, aborted cardiac arrest, and sudden cardiac death. Many patients with congenital LQTS will remain asymptomatic for life. The initial diagnostic evaluation of congenital LQTS includes obtaining detailed personal and multi-generation family history, physical examination, series of 12-lead ECG recordings, and calculation of the LQTS diagnostic score, called Schwartz score. Patients are also advised to undertake 24-hour ambulatory monitoring, treadmill/cycle stress testing, and LQTS genetic testing for definitive confirmation of the diagnosis. Currently available treatment options include lifestyle modifications, medication therapy with emphasis on betablockers, device therapy and surgical therapy, with beta-blockers being the first-line treatment option, both in symptomatic and asymptomatic patients.Sindrom dugog QT intervala (LQTS) nasljedni je poremećaj repolarizacije miokarda obilježen produženim QT intervalom u elektrokardiogramu (EKG) koji može uzrokovati maligne ventrikulske aritmije i iznenadnu srčanu smrt. LQTS prvi je puta opisan 1957. godine, a iako je njegova genetska podloga mnogo puta istraživana, etiologija još uvijek nije u potpunosti razjašnjena. Ovisno o tipu monogenske mutacije LQTS se može podijeliti u 17 podtipova od kojih su najčešći LQTS1, LQTS2 i LQTS3. Procjenjuje se da učestalost kongenitalnog LQTS iznosi oko 1:2000. Klinička slika LQTS može uključivati sinkopu, srčani zastoj i iznenadnu srčanu smrt. Velik dio bolesnika s kongenitalnim LQTS ostaje asimptomatski tijekom cijeloga života. Dijagnostičku obradu kongenitalnog LQTS čini detaljna osobna i obiteljska anamneza, fizikalni pregled, serijsko praćenje 12-kanalnog EKG-a te izračun Schwartzovih dijagnostičkih kriterija. Također treba isključiti moguće sekundarne uzroke stečenog LQTS. Uz to, bolesnicima se savjetuje učiniti 24-satni holter EKG i test opterećenja, a za konačnu potvrdu dijagnoze genetsko testiranje. Terapijske mogućnosti uključuju promjene životnih navika, medikamentnu terapiju s naglaskom na beta-blokatore, implantaciju kardioverter defibrilatora i kirurško liječenje, pri čemu su beta-blokatori prvi izbor terapije i kod simptomatskih i asimptomatskih bolesnika