Dilated Cardiomyopathy. From Genetics to Clinical Management

The current definition of dilated cardiomyopathy (DCM) is relatively simple: it is a heart muscle disease characterized by left ventricular (LV) or biventricular dilation and systolic dysfunction in the absence of either pressure or volume overload or coronary artery disease sufficient enough to explain the dysfunction. In the last 30 years, prognosis of patients with DCM has dramatically been improved with few similarities in the history of cardiology and medicine. Typically, in the 1980s, the average survival rate was approximately 50% in a 5-year follow-up. Nowadays, at 10 years of follow-up, the survival/free from heart transplant rate is far beyond 85%, and the projection of this improvement is significantly better for those who have had DCM diagnosed in the late 2010s. This improvement in outcomes is fundamentally due to a better characterization of etiological factors, medical management for heart failure, and device treatment, like the implantable cardioverter defibrillator (ICD), for sudden cardiac death prevention. However, other milestones should be recognized for the improvement in the survival rate, namely, the early diagnosis due to familial and sport-related screening, which allow detection of DCM at a less severe stage, and the uninterrupted, active, and individualized long-term follow-up with continuous reevaluation of the disease and re-stratification of the risk

Persistence of Restrictive Left Ventricular Filling Pattern in Dilated Cardiomyopathy: An Ominous Prognostic Sign

AbstractObjectives. We sought to assess the prognostic implications of the evolution of restrictive left ventricular filling pattern (RFP) in dilated cardiomyopathy (DCM).Background. Previous work has demonstrated that a RFP in DCM is associated with a poor prognosis. Few data are available on the prognostic implications of the evolution of this pattern.Methods. The evolution of left ventricular filling was studied by Doppler echocardiography in 110 patients with DCM. According to the left ventricular filling pattern at presentation and after 3 months of treatment, the patients were classified into three groups: Group 1A (n = 24) had persistent restrictive filling; Group 1B (n = 29) had reversible restrictive filling; and Group 2 (n = 57) had nonrestrictive filling.Results. During follow-up (41 ± 20 months), mortality plus heart transplantation was significantly higher in Group 1A than in Groups 1B and 2 (p < 0.0001). On multivariate analysis, the model incorporating E wave deceleration time at 3 months was more powerful at predicting mortality with respect to this variable at baseline (p = 0.0039). Clinical improvement at 1 and 2 years was significantly more frequent in Groups 1B and 2 than in Group 1A (p < 0.0001 at 2 years).Conclusions. In patients with DCM, the persistence of restrictive filling at 3 months is associated with a high mortality and transplantation rate. The patients with reversible restrictive filling have a high probability of improvement and excellent survival. Doppler echocardiographic reevaluation of these patients after 3 months of therapy gives additional prognostic information with respect to the initial study.(J Am Coll Cardiol 1997;29:604–12

A thirty-nine-year survival with the Starr-Edwards mitral valve prosthesis

We report a case of a 57 year-old woman with Starr- Edwards model 6120 mitral valve replacement and Kay- Shiley bioprosthetic tricuspid valve replacement in 1968 at Niguarda Hospital in Milan. The mitral caged-ball has proved its excellent durability and its good hemodynamic performance in many patients, even if subject to high tendency to thrombosis. In literature there is no evidence of durability of this prosthesis longer than 35 years. Our patient after 39 years from mitral valve replacement lives a happy and fulfilling life (NYHA II), with no evidence of hemolysis, ball variance, symptomatic embolization or major bleeding

Persistent recovery of normal left ventricular function and dimension in idiopathic dilated cardiomyopathy during long\u2010term follow\u2010up: does real healing exist?

BACKGROUND: An important number of patients with idiopathic dilated cardiomyopathy have dramatically improved left ventricular function with optimal treatment; however, little is known about the evolution and long-term outcome of this subgroup, which shows apparent healing. This study assesses whether real healing actually exists in dilated cardiomyopathy. METHODS AND RESULTS: Persistent apparent healing was evaluated among 408 patients with dilated cardiomyopathy receiving tailored medical treatment and followed over the very long-term. Persistent apparent healing was defined as left ventricular ejection fraction 6550% and indexed left ventricular end-diastolic diameter 6433 mm/m(2) at both mid-term (19\ub14 months) and long-term (103\ub19 months) follow-up. At mid-term, 63 of 408 patients (15%) were apparently healed; 38 (60%; 9%of the whole population) showed persistent apparent healing at long-term evaluation. No predictors of persistent apparent healing were found. Patients with persistent apparent healing showed better heart transplant\u2013free survival at very long-term follow-up (95% versus 71%; P=0.014) compared with nonpersistently normalized patients. Nevertheless, in the very longterm, 37% of this subgroup experienced deterioration of left ventricular systolic function, and 5% died or had heart transplantation. CONCLUSIONS: Persistent long-term apparent healing was evident in a remarkable proportion of dilated cardiomyopathy patients receiving optimal medical treatment and was associated with stable normalization of main clinical and laboratory features. This condition can be characterized by a decline of left ventricular function over the very long term, highlighting the relevance of serial nd individualized follow-up in all patients with dilated cardiomyopathy, especially considering the absence of predictors for longterm apparent healing

Role of Cardiac Imaging: Echocardiography

Echocardiography has crucial importance in the diagnosis of dilated cardiomyopathy (DCM). Echocardiographic features of DCM are left ventricular (LV) dilation and systolic dysfunction with impaired global contractility and normal LV wall thickness and LV diastolic dysfunction with elevation in LV filling pressure. Other frequent characteristics are LV dyssynchrony, right ventricular (RV) dysfunction, atrial dilation, functional mitral and tricuspid regurgitation, and secondary pulmonary hypertension. New echocardiographic technologies can be helpful, i.e., three-dimensional (3D) echocardiography for more accurate assessment of LV volumes and ejection fraction (EF) and speckle tracking for analysis of strain particularly for early diagnosis. Of note, many echocardiographic parameters have demonstrated important prognostic value in DCM

MitraClip after heart transplantation: A case report

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Conflicting gender-related differences in the natural history of patients with Idiopathic Dilated Cardiomyopathy

Objective. To evaluated possible clinical and instrumental, natural history and prognostic divergences in women and men with idiopathic dilated cardiomyopathy (IDCM). Patients and Methods. From 1988 to 2012, we evaluated 803 consecutive patients with IDCM recorded in the Heart Muscle Disease Registry of Trieste (Italy). All patients had serial follow-up evaluations at 6, 12, and 24 months, and subsequently every two years, or more frequently if clinically indicated. Results. Two hundred and twenty-seven patients (28%) were female. At first evaluation women were significantly older (48 vs. 45 years old, p = 0.008); presented more frequently left bundle branch block at ECG (38% vs. 28%, p = 0.01), smaller left ventricular end-diastolic indexed volume at echocardiography (85 vs. 93 ml/m2, p &lt;0.002) and more frequently moderate to severe mitral regurgitation at Doppler (43% vs. 33%, p = 0.015). No differences in NYHA class, medical treatment and device implantation rates were found. During a median of 108 months follow-up, women showed a significantly lower ten-year total mortality/heart transplantation (20% vs. 32% respectively, p = 0.001) and cardiovascular mortality rates (9% vs. 15%, p = 0.024) despite a less marked clinical and echocardiographic improvement. Conclusions. In our population of patients with IDCM, women showed a better long-term prognosis notwithstanding a presentation with a more advanced disease and a lower clinical-instrumental improvement on optimal medical therapy compared to men.&nbsp

Long-Term Evolution and Prognostic Stratification of Biopsy-Proven Active Myocarditis

Background— Active myocarditis is characterized by large heterogeneity of clinical presentation and evolution. This study describes the characteristics and the long-term evolution of a large sample of patients with biopsy-proven active myocarditis, looking for accessible and valid early predictors of long-term prognosis. Methods and Results— From 1981 to 2009, 82 patients with biopsy-proven active myocarditis were consecutively enrolled and followed-up for 147±107 months. All patients underwent clinical and echocardiographic evaluation at baseline and at 6 months. At this time, improvement/normality of left ventricular ejection fraction (LVEF), defined as a LVEF increase > 20 percentage points or presence of LVEF≥50%, was assessed. At baseline, left ventricular dysfunction (LVEF<50%) and left atrium enlargement were independently associated with long-term heart transplantation–free survival, regardless of the clinical pattern of disease onset. At 6 months, improvement/normality of LVEF was observed in 53% of patients. Persistence of New York Heart Association III to IV classes, left atrium enlargement, and improvement/normality of LVEF at 6 months emerged as independent predictors of long-term outcome. Notably, the short-term reevaluation showed a significant incremental prognostic value in comparison with the baseline evaluation (baseline model versus 6 months model: area under the curve 0.79 versus 0.90, P =0.03). Conclusions— Baseline left ventricular function is a marker for prognosis regardless of the clinical pattern of disease onset, and its reassessment at 6 months appears useful for assessing longer-term outcome

Right Ventricular Strain and Dyssynchrony Assessment in Arrhythmogenic Right Ventricular Cardiomyopathy: Cardiac Magnetic Resonance Feature-Tracking Study

BACKGROUND: Analysis of right ventricular (RV) regional dysfunction by cardiac magnetic resonance (CMR) imaging in arrhythmogenic RV cardiomyopathy (ARVC) may be inadequate because of the complex contraction pattern of the RV. Aim of this study was to determine the use of RV strain and dyssynchrony assessment in ARVC using feature-tracking CMR analysis. METHODS AND RESULTS: Thirty-two consecutive patients with ARVC referred to CMR imaging were included. Thirty-two patients with idiopathic RV outflow tract arrhythmias and 32 control subjects, matched for age and sex to the ARVC group, were included for comparison purpose. CMR imaging was performed to assess biventricular function; feature-tracking analysis was applied to the cine CMR images to assess regional and global longitudinal, circumferential, and radial RV strains and RV dyssynchrony (defined as the SD of the time-to-peak strain of the RV segments). RV global longitudinal strain (-17\ub15% versus -26\ub16% versus -29\ub16%; P-23.2%, SD of the time-to-peak RV longitudinal strain >113.1 ms, and SD of the time-to-peak RV circumferential strain >177.1 ms allowed correct identification of 88%, 75%, and 63% of ARVC patients with no or only minor CMR criteria for ARVC diagnosis. CONCLUSIONS: Strain analysis by feature-tracking CMR helps to objectively quantify global and regional RV dysfunction and RV dyssynchrony in patients with ARVC and provides incremental value over conventional cine CMR imaging

Left Ventricular Response to Cardiac Resynchronization Therapy: Insights From Hemodynamic Forces Computed by Speckle Tracking

Aims: Despite continuous efforts in improving the selection process, the rate of non-responders to cardiac resynchronization therapy (CRT) remains high. Recent studies on intraventricular blood flow suggested that the alignment of hemodynamic forces (HDFs) may be a reproducible biomarker of mechanical dyssynchrony. We aimed to explore the relationship between pacing-induced realignment of HDFs and positive response to CRT. Methods and results: We retrospectively analyzed 38 patients from the CRT database of our institution fulfilling the inclusion criteria for HDFs-related echocardiographic assessment early pre and post CRT implantation, with available mid-term follow-up ( 65 6 months) evaluation. Standard echocardiographic and deformation parameters early pre and post CRT implantation were integrated with the measurement of HFDs through novel methods based on speckle-tracking analysis. At midterm follow-up 71% of patients were classified as responders (reduction of Left Ventricular Systolic Volume Indexed 65 15%). Patients did not display significant changes between close evaluations pre and post-implant in terms of ejection fraction and strain metrics. A significant reduction of the ratio between the amplitudes of transversal and longitudinal force components was found. The variation of this ratio strongly correlates (R2 =0.60) with Left Ventricular (LV) end-systolic volume variation at mid-term follow up. Conclusion: Pacing-induced realignment of HDFs is associated with CRT efficacy at follow up. These preliminary results claim for dedicated prospective clinical studies testing the potential impact of HDFs study for patient selection and pacing optimization in CRT