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Introduction. Hypertrophic cardiomyopathy (HCM) is a disease with increased left ventricular (LV) wall thickness not solely explained by abnormal loading conditions, with great heterogeneity regarding clinical expression and prognosis. The aim of the present study was to collect data on HCM patients from different centres across the country, in order to assess the general characteristics and therapeutic choices in this population.

Aims: Cardiac disease progression prior to first ventricular arrhythmia (VA) in LMNA genotype-positive patients is not described.Methods and Results: We performed a primary prevention cohort study, including consecutive LMNA genotype-positive patients from our centre. Patients underwent repeated clinical, electrocardiographic, and echocardiographic examinations. Electrocardiographic and echocardiographic disease progression as a predictor of first-time VA was evaluated by generalized estimation equation analyses. Threshold values at transition to an arrhythmic phenotype were assessed by threshold regression analyses. We included 94 LMNA genotype-positive patients without previous VA (age 38 ± 15 years, 32% probands, 53% females). Nineteen (20%) patients experienced VA during 4.6 (interquartile range 2.1-7.3) years follow up, at mean age 50 ± 11 years. We analysed 536 echocardiographic and 261 electrocardiogram examinations. Individual patient disease progression was associated with VA [left ventricular ejection fraction (LVEF) odds ratio (OR) 1.4, 95% confidence interval (CI) 1.2-1.6 per 5% reduction, left ventricular end-diastolic volume index (LVEDVi) OR 1.2 (95% CI 1.1-1.3) per 5 mL/m2 increase, PR interval OR 1.2 (95% CI 1.1-1.4) per 10 ms increase]. Threshold values for transition to an arrhythmic phenotype were LVEF 44%, LVEDVi 77 mL/m2, and PR interval 280 ms.Conclusions: Incidence of first-time VA was 20% during 4.6 years follow up in LMNA genotype-positive patients. Individual patient disease progression by ECG and echocardiography were strong predictors of VA, indicating that disease progression rate may have additional value to absolute measurements when considering primary preventive ICD. Threshold values of LVEF <44%, LVEDVi >77 mL/m2, and PR interval >280 ms indicated transition to a more arrhythmogenic phenotype. [ABSTRACT FROM AUTHOR]

Aims Arrhythmic mitral valve syndrome is linked to life-threatening ventricular arrhythmias. The incidence, morphology and methods for risk stratification are not well known. This prospective study aimed to describe the incidence and the morphology of ventricular arrhythmia and propose risk stratification in patients with arrhythmic mitral valve syndrome. Methods Arrhythmic mitral valve syndrome patients were monitored for ventricular tachyarrhythmias by implantable loop recorders (ILR) and secondary preventive implantable cardioverter-defibrillators (ICD). Severe ventricular arrhythmias included ventricular fibrillation, appropriate or aborted ICD therapy, sustained ventricular tachycardia and non-sustained ventricular tachycardia with symptoms of hemodynamic instability. Results During 3.1 years of follow-up, severe ventricular arrhythmia was recorded in seven (12%) of 60 patients implanted with ILR [first event incidence rate 4% per person-year, 95% confidence interval (CI) 2–9] and in four (20%) of 20 patients with ICD (re-event incidence rate 8% per person-year, 95% CI 3–21). In the ILR group, severe ventricular arrhythmia was associated with frequent premature ventricular complexes, more non-sustained ventricular tachycardias, greater left ventricular diameter and greater posterolateral mitral annular disjunction distance (all P < 0.02). Conclusions The yearly incidence of ventricular arrhythmia was high in arrhythmic mitral valve syndrome patients without previous severe arrhythmias using continuous heart rhythm monitoring. The incidence was even higher in patients with secondary preventive ICD. Frequent premature ventricular complexes, non-sustained ventricular tachycardias, greater left ventricular diameter and greater posterolateral mitral annular disjunction distance were predictors of first severe arrhythmic event. [ABSTRACT FROM AUTHOR]

Aims We aimed to study the progression of cardiac dysfunction in patients with lamin A/C mutations and explore markers of adverse cardiac outcome. Methods and results We followed consecutive lamin A/C genotype-positive patients divided into tertiles according to age. Patients underwent repeated clinical examinations, electrocardiograms (ECGs), and echocardiograms. We followed left ventricular (LV) and right ventricular (RV) size and function, and the severity atrioventricular-valve regurgitations. Outcome was death, LVAD implant, or cardiac transplantation. We included 101 patients [age 44 (29–54) years, 39% probands, 50% female]. We analysed 576 echocardiograms and 258 ECGs during a follow-up of 4.9 (interquartile range 2.5–8.2) years. The PR-interval increased at young age from 204 ± 73 to 212 ± 69 ms (P  < 0.001), LV ejection fraction (LVEF) declined from middle age from 50 ± 12% to 47 ± 13% (P  < 0.001), while LV volumes remained unchanged. RV function and tricuspid regurgitation worsened from middle age with accelerating rates. Progression of RV dysfunction [odds ratio (OR) 1.3, 95% confidence interval (CI) (1.03–1.65), P  = 0.03] and tricuspid regurgitation [OR 4.9, 95% CI (1.64–14.9), P  = 0.004] were associated with outcome when adjusted for age, sex, comorbidities, LVEF, and New York Heart Association functional class. Conclusion In patients with lamin A/C genotype, electrical disease started at young age. From middle age, LV function deteriorated progressively, while LV size remained unchanged. Worsening of RV function and tricuspid regurgitation accelerated in older age and were associated with outcome. Our systematic map on cardiac deterioration may help optimal monitoring and prognostication in lamin A/C disease. [ABSTRACT FROM AUTHOR]

Aims We aimed to assess the prevalence of mitral annulus disjunction (MAD) and to explore the association with aortic disease and mitral valve surgery in patients with Marfan syndrome (MFS) and Loeys–Dietz syndrome (LDS). Methods and results We included consecutive MFS patients fulfilling Revised Ghent Criteria and LDS patients fulfilling Loeys–Dietz Revised Nosology. MAD was identified by echocardiography and was quantified as the longitudinal distance from the ventricular myocardium to the hinge point of the posterior mitral leaflet. Aortic events were defined as aortic dissection or prophylactic aortic surgery. We recorded the need of mitral valve surgery including mitral valve repair or replacement. We included 168 patients (103 with MFS and 65 with LDS). The prevalence of MAD was 41%. MAD was present in all age groups. Aortic events occurred in 112 (67%) patients (27 with dissections and 85 with prophylactic surgical interventions). Patients with MAD were younger at aortic event than those without MAD (log rank = 0.02) Patients with aortic events had greater MAD distance in posterolateral wall [8 (7–10) mm vs. 7 (6–8) mm, P  = 0.04]. Mitral events occurred more frequently in patients with MAD (P  < 0.001). Conclusion MAD was highly prevalent in patients with MFS and LDS. MAD was a marker of severe disease including aortic events at younger age and need of mitral valve surgery. Screening patients with MFS an LDS for MAD may provide prognostic information and may be relevant in planning surgical intervention. Detection of MAD in patients with MFS and LDS may infer closer clinical follow-up from younger age. [ABSTRACT FROM AUTHOR]

This study aimed to assess whether patients with MAD also have disjunction of the tricuspid annulus. Mitral annulus disjunction (MAD) is an abnormal atrial displacement of the mitral annulus. Whether the disjunction extends to the right side of the heart is not known. In a cohort of patients with MAD, we assessed the presence of tricuspid annulus disjunction (TAD) with the use of cardiac magnetic resonance. We explored the associations between TAD and MAD characteristics and the relationship to ventricular arrhythmias (nonsustained/sustained ventricular tachycardias and aborted cardiac arrest). We included 84 patients (mean age: 48 ± 16 years; 63% female). We observed TAD in 42 (50%). Patients with TAD were older (age 52 ± 16 years vs. 43 ± 15 years; p = 0.02), had greater circumferential extent of MAD (164 ± 57° vs. 115 ± 58°; p = 0.002), greater maximum longitudinal MAD distance (9.4 ± 2.9 mm vs. 6.2 ± 2.8 mm; p < 0.001), and more frequent mitral valve prolapse (n = 39 [92%] vs. n = 24 [57%]; p < 0.001). Ventricular arrhythmias had occurred in 34 patients (41%), who were younger (age 39 ± 14 years vs. 54 ± 14 years; p < 0.001) and had lower prevalence of TAD (n = 22 [29%] vs. n = 12 [52%]; p = 0.03). TAD was not associated with ventricular arrhythmias when adjusted for age (odds ratio adjusted for age: 0.54; 95% confidence interval: 0.20 to 1.45; p = 0.22). We report for the first time the existence of right-sided annulus disjunction as a common finding in patients with MAD. TAD was associated with more severe left-sided annulus disjunction and mitral valve prolapse, but not with ventricular arrhythmias. [Display omitted] [ABSTRACT FROM AUTHOR]

Aims We aimed to assess structural progression in arrhythmogenic cardiomyopathy (AC) patients and mutation-positive family members and its impact on arrhythmic outcome in a longitudinal cohort study. Methods and results Structural progression was defined as the development of new Task Force imaging criteria from inclusion to follow-up and progression rates as annual changes in imaging parameters. We included 144 AC patients and family members (48% female, 47% probands, 40 ± 16 years old). At genetic diagnosis and inclusion, 58% of family members had penetrant AC disease. During 7.0 [inter-quartile range (IQR) 4.5–9.4] years of follow-up, 47% of family members without AC at inclusion developed AC criteria, resulting in a yearly new AC penetrance of 8%. Probands and family members had a similar progression rate of right ventricular outflow tract diameter (0.5 mm/year vs. 0.6 mm/year, P  = 0.28) by mixed model analysis of 598 echocardiographic examinations. Right ventricular fractional area change progression rate was even higher in family members (−0.6%/year vs. −0.8%/year, P  < 0.01). Among 86 patients without overt structural disease or arrhythmic history at inclusion, a first severe ventricular arrhythmic event occurred in 8 (9%), of which 7 (88%) had concomitant structural progression. Structural progression was associated with higher incidence of severe ventricular arrhythmic events adjusted for age, sex, and proband status (HR 21.24, 95% CI 2.47–182.81, P  < 0.01). Conclusion More than half of family members had AC criteria at genetic diagnosis and yearly AC penetrance was 8%. Structural progression was similar in probands and family members and was associated with higher incidence of severe ventricular arrhythmic events. Open in new tab Download slide Open in new tab Download slide [ABSTRACT FROM AUTHOR]

Arrhythmogenic cardiomyopathy is an autosomal dominant inherited cardiomyopathy that predispose to malignant arrhythmic events and heart failure. Arrhythmic risk stratification is manly based on arrhythmic history and phenotype severity. Implantation of a cardiac defibrillator is the only effective strategy to prevent sudden cardiac death. Survival have been improved once implantable cardioverter-defibrillator has been extensively used and the number of malignant ventricular arrhythmias survivors developing heart failure has substantially increased. Heart failure develops more often in the setting of left ventricle or biventricular involvement. Left ventricle dysfunction and heart failure are associated with specific genotype. Serial longitudinally follow-up of arrhythmogenic cardiomyopathy patients reported development of new criteria over time and progressive ventricular dilatation and dysfunction as well as development of full arrhythmogenic cardiomyopathy phenotype over time in mutation-positive family members. Recognition of risk markers is important in the setting of arrhythmogenic cardiomyopathy for an optimal management. [ABSTRACT FROM AUTHOR]

Objective: Changes in right ventricular (RV) structure and function following prolonged endurance training in athletes arise due to its unique anatomy and physiology. Arrhythmogenic cardiomyopathy (AC) should be differentiated from electrical, functional and structural adaptation of the heart in response to repetitive intense physical activity due to the negative contribution of exercise on AC progression and arrhythmic risk.Design: For this review we performed a systematic search of the PubMed database up to October 2017 using terms and keywords pertaining to RV, athlete's heart (AH), AC, sudden cardiac death.Results: This review summarizes currently available data on the impact of exercise on cardiac structure and function, discusses the debatable hypothesis of exercise-induced RV remodeling, compares the common features and search for distinctive characteristics between AH and AC.Conclusion: Exercise has a more profound impact on the structure and function of the RV than of the left ventricle. Differentiating physiologic RV remodeling following prolonged endurance exercise from subclinical cardiac pathology can be challenging. A multimodality approach is recommended to differentiate between exercise-induced physiological adaptations and cardiomyopathy. [ABSTRACT FROM AUTHOR]

Arrhythmogenic right ventricular dysplasia (ARVD), with the more appropriate label of 'arrhythmogenic cardiomyopathy' (AC), is still considered a rare pathological entity. It is an inheritable heart muscle disease with a powerful negative impact on the survival and the quality of life of patients, primarily through malignant arrhythmias or, more rarely, the development of heart failure. We present the case of a man who was diagnosed with AC at the age of 32 years following a detailed cardiac evaluation prompted by an incidental finding of anabnormal ECG tracing (negative T waves from V1 through V3). Both the echocardiography and the cardiac MRI performed at that time revealed predominantly the involvement of the LV, with none or minor structural and functional RV defects. After 4 years, the disease progressed and now we are facing biventricular involvement, with moderate systolic dysfunction of the LV and RV, yet the patient remains asymptomatic. A series of steps including multimodality imaging techniques, various tests, family history and other aspects are needed in order to correctly stratify the risk of sudden cardiac death (SCD) which will ultimately translate into an appropriate therapeutic choice. [ABSTRACT FROM AUTHOR]

aims: Although mortality is the most important clinical endpoint in heart failure (HF) clinical trials, it is now recognized that preventing HF hospitalization is important for patients and healthcare systems. In the Digitalis Investigation Group (DIG) trial, digoxin reduced hospitalization due to heart failure (HF) and improved outcomes in high-risk subgroups of HF patients. In our study, we investigated the contemporary use of digoxin in clinical practice based on current knowledge. Methods and results -- We retrospectively studied the medical files of 300 patients (58% men, 65 ± 12 years) admitted for both systolic and diastolic HF of different etiologies, in NYHA functional class II-IV. Having in mind the original design of the DIG trial and the recommendations of the current guidelines, we focused on the subgroup of patients with heart failure and reduced left ventricular ejection fraction (LVEF) (REF-HF) (LVEF less than 45%) in sinus rhythm. Only 26 patients (31.7% of patients in this subgroup) received digoxin. On the other hand, in the subgroup of patients with atrial fibrillation 89 patients (60.13% of patients in this subgroup) were treated with digoxin. A higher heart rate at admission and a lower LVEF were predictors of digoxin choice in atrila fibrillation subgroup. Comparing patients treated with digoxin to non-digoxin patients, we concluded that the more severe the HF (in terms of clinical, biological and echocardiographic parameters), the more likely will be for the patient to receive digoxin. Markers of severity were advanced functional NYHA class, clinical signs of elevated LV filling pressures, tachycardia, lower sodium levels and depressed LV function as assessed by LVEF. Conclusion --This study highlighted the fact that in current clinical practice digoxin is a therapy of last resort and this drug is chosen in patients with more advanced HF. [ABSTRACT FROM AUTHOR]

Partial anomalous pulmonary venous connection (PAPVC) is a rare abnormality which consists of a failure of connection between the initial draining system of the lungs and the common pulmonary vein. Its occurrence in the left lung represents just 10% of cases and most of the time it is diagnosed as an incidental fi nding either by means of imaging techniques either during thoracic surgery that is undergone for various reasons. Although most patients are asymptomatic, some of them develop during adulthood pulmonary arterial hypertension (PAH) which ultimately leads to overt right heart failure, raising the issue of whether or not to undergo surgical correction. We present the case of a 66-year-old female patient for whom the defi nitive etiological diagnosis of her dyspnea required a multi-modality imaging approach, highlighting the need for complex interactions between different specialties and subspecialties. [ABSTRACT FROM AUTHOR]

Aims: Arrhythmic mitral valve syndrome is linked to life-threatening ventricular arrhythmias. The incidence, morphology and methods for risk stratification are not well known. This prospective study aimed to describe the incidence and the morphology of ventricular arrhythmia and propose risk stratification in patients with arrhythmic mitral valve syndrome., Methods: Arrhythmic mitral valve syndrome patients were monitored for ventricular tachyarrhythmias by implantable loop recorders (ILR) and secondary preventive implantable cardioverter-defibrillators (ICD). Severe ventricular arrhythmias included ventricular fibrillation, appropriate or aborted ICD therapy, sustained ventricular tachycardia and non-sustained ventricular tachycardia with symptoms of hemodynamic instability., Results: During 3.1 years of follow-up, severe ventricular arrhythmia was recorded in seven (12%) of 60 patients implanted with ILR [first event incidence rate 4% per person-year, 95% confidence interval (CI) 2-9] and in four (20%) of 20 patients with ICD (re-event incidence rate 8% per person-year, 95% CI 3-21). In the ILR group, severe ventricular arrhythmia was associated with frequent premature ventricular complexes, more non-sustained ventricular tachycardias, greater left ventricular diameter and greater posterolateral mitral annular disjunction distance (all P < 0.02)., Conclusions: The yearly incidence of ventricular arrhythmia was high in arrhythmic mitral valve syndrome patients without previous severe arrhythmias using continuous heart rhythm monitoring. The incidence was even higher in patients with secondary preventive ICD. Frequent premature ventricular complexes, non-sustained ventricular tachycardias, greater left ventricular diameter and greater posterolateral mitral annular disjunction distance were predictors of first severe arrhythmic event., Competing Interests: Conflict of interest: None declared., (© The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology.)

Aims: Cardiac disease progression prior to first ventricular arrhythmia (VA) in LMNA genotype-positive patients is not described., Methods and Results: We performed a primary prevention cohort study, including consecutive LMNA genotype-positive patients from our centre. Patients underwent repeated clinical, electrocardiographic, and echocardiographic examinations. Electrocardiographic and echocardiographic disease progression as a predictor of first-time VA was evaluated by generalized estimation equation analyses. Threshold values at transition to an arrhythmic phenotype were assessed by threshold regression analyses. We included 94 LMNA genotype-positive patients without previous VA (age 38 ± 15 years, 32% probands, 53% females). Nineteen (20%) patients experienced VA during 4.6 (interquartile range 2.1-7.3) years follow up, at mean age 50 ± 11 years. We analysed 536 echocardiographic and 261 electrocardiogram examinations. Individual patient disease progression was associated with VA [left ventricular ejection fraction (LVEF) odds ratio (OR) 1.4, 95% confidence interval (CI) 1.2-1.6 per 5% reduction, left ventricular end-diastolic volume index (LVEDVi) OR 1.2 (95% CI 1.1-1.3) per 5 mL/m2 increase, PR interval OR 1.2 (95% CI 1.1-1.4) per 10 ms increase]. Threshold values for transition to an arrhythmic phenotype were LVEF 44%, LVEDVi 77 mL/m2, and PR interval 280 ms., Conclusions: Incidence of first-time VA was 20% during 4.6 years follow up in LMNA genotype-positive patients. Individual patient disease progression by ECG and echocardiography were strong predictors of VA, indicating that disease progression rate may have additional value to absolute measurements when considering primary preventive ICD. Threshold values of LVEF <44%, LVEDVi >77 mL/m2, and PR interval >280 ms indicated transition to a more arrhythmogenic phenotype., Competing Interests: Conflict of interest: None declared., (© The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology.)