Search

Electrocardiographic (ECG) findings in arrhythmogenic left ventricular cardiomyopathy (ALVC) are limited to small case series.

Almost one-third of patients with arrhythmogenic cardiomyopathy (ACM) experience a diagnostic delay >2 years. These patients are mostly affected by an ACM phenotype with left ventricular (LV) involvement and present worse mortality compared with those without diagnostic delay.Diagnostic delay is common in patients with ACM, particularly in the presence of LV involvement, and is associated with greater mortality at follow-up.The most common initial (mis)diagnoses were dilated cardiomyopathy, myocarditis, and idiopathic ventricular arrhythmia. Clinical suspicion and increasing use of tissue characterization by cardiac magnetic resonance in these specific clinical settings are of key importance to identify ACM in a timely fashion.Graphical Abstract

Hypertrophic cardiomyopathy (HCM) is a genetic disease of the myocardium that is relatively common in the general population, with an autosomal dominant inheritance as a genetic basis. Clinical and natural history pathways can be very different among patients with HCM. Treatment strategies have made very important advances in the last two decades, especially reducing cases of sudden death through effective risk stratification and the use of implantable defibrillators. Heart failure has become the predominant cause of morbidity and mortality in patients with HCM, being responsible for as many as 60% of disease-related deaths. HCM is most often characterized by the presence of left ventricular outflow tract (LVOT) obstruction, and this obstruction is the most frequent cause of impaired exercise tolerance in HCM and a strong independent predictor of heart failure progression and mortality. The different treatment strategies of LVOT obstruction in HCM are discussed below: surgical, invasive, and the more recent pharmacological.

To apply the American College of Cardiology (ACC) and American Heart Association (AHA) heart failure (HF) staging system to patients with transthyretin cardiac amyloidosis (TTR-CA) in order to assess diagnostic delay and evaluate prognosis.

The risk of adverse cardiovascular events in patients with acute myocarditis (AM) and desmosomal gene variants (DGV) remains unknown.

Cardiac amyloidosis is an infiltrative myocardial disease whose prevalence significantly increased in recent years. Its clinical history is changing due to the advent of novel therapies, and careful risk stratification has become impelling. Arrhythmias, frequently found during the course of the disease, include conduction system disease, atrial fibrillation (AF), and ventricular arrhythmias (VAs). Arrhythmic risk stratification is a key to identify those patients at higher risk to develop advanced atrioventricular blocks, asymptomatic AFs, or major VAs. This carries significant clinical implications concerning the indication and timing of implantable cardiac devices, as well as the initiation of anticoagulation therapy.

Transthyretin (TTR) amyloid cardiomyopathy due to mutation on TTR gene (vATTR) has extremely different features according to the type of mutation, ranging from a mild to an extensive cardiac involvement. Data about electrocardiographic findings (ECG) in vATTR are limited and not informative of genotype correlation. Aim of this study is to analyze ECG characteristics and their correlation to clinical and echocardiographic aspects in patients with vATTR cardiomyopathy, focusing on different TTR mutations.This is a multicentric, retrospective, observational study performed in six Italian referral centres for cardiac amyloidosis. We divided patients in two groups, according to the previously described phenotypic manifestations of the TTR mutation. Of 64 patients with vATTR cardiomyopathy, 23 (36%) had prevalent cardiac (PC) TTR mutations and 41 (64%) patients had a prevalent neurological (PN) TTR mutations. Patients with PC mutations were more frequently males and older, with advanced NAC staging. At baseline ECG, atrial fibrillation was more common in patients with PC, while pacemaker induced rhythm in those with PN mutations. Prevalence of atrioventricular and intraventricular blocks, pseudonecrosis pattern and low voltages were not significantly different in both groups. PQ and QRS durations were longer and voltage to mass ratio was lower in PC mutations. Different TTR mutations tend to have distinctive ECG features.The standard ECG in vATTR is extremely heterogeneous and the specific mutations are associated with distinct instrumental and clinical features. The differences between PN and PC vATTR are only partially explained by the different degree of cardiac infiltration.

Introduction:Over the last 50 years, the epidemiology of hypertrophic cardiomyopathy (HCM) has changed. However, updated data on this relevant matter from large multinational HCM cohorts are lacking.Hypothesis:In the last decades, HCM has been increasingly diagnosed leading to a broader spectrum of clinical and instrumental features.Methods:We retrospectively analyzed records (updated to the first quarter of 2018) from an ongoing multinational HCM registry. For the purpose of our analysis, all patients ?18 years old at diagnosis were divided into three temporal groups (<2000; 2000-2010; >2010).Results:Overall, 4608 HCM patients diagnosed between 1961 and 2018 were included. Number of diagnoses increased over time (<2000 -N=1179, 2000-2010 -N=2004, >2010 -N=1425). Mean age at diagnosis increased (41?14 vs 49?15 vs 52?15 years in patients diagnosed <2000 vs 2000-2010 vs >2010 respectively, p<0.001), both in US and non-US sites, with a stable male-to-female ratio of about 3:2. Prevalence of patients diagnosed >60 years was highest after 2010 (11 vs 25 vs 33%, p<0.001, Figure).Degree of hypertrophy became progressively less marked over time (20?6 vs 18?5 vs 16?5 mm, p<0.001). Genetic testing was performed in 3061 patients: 44% were found to carry pathogenic/likely-pathogenic variants, but identification of such variants decreased over time (55 vs 42 vs 37%, p<0.001). Prevalence of family history of HCM at diagnosis declined over time. Heart failure symptoms at presentation became less frequent after 2000 (NYHA III/IV: 17 vs 14 vs 11%, p<0.001), with diagnoses in asymptomatic patients rising to 56% >2010.Conclusions:We observed a consistent temporal trend of increasing age at HCM diagnosis, irrespective of geographical region, with a greater portion of asymptomatic cases, without family history and carrying genetic mutations of unknown significance. These findings should prompt a thorough revision of our current perspective and approach to the HCM disease.