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

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

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 <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

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 <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. Conclusion: 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

Pulmonary artery aneurysm and sarcoidosis

Pulmonary artery aneurysm unassociated to congenital heart disease and pulmonary hypertension is exceedingly rare. Its pathogenesis and correct management remain unknown. Sarcoidosis is a systemic disease that can exceptionally involve large vessels, leading to stenosis and dilatation. Pulmonary artery aneurysm has never been described in association with sarcoidosis. Surgical approach should prevent aneurysm rupture, but it is not known when surgery should be preferred to strict medical follow-up. In this report we present a case of large pulmonary artery aneurysm associated to systemic sarcoidosis underlining problematic management of diseases 'forgotten' by evidence based medicine

Prognostic significance of atrial fibrillation and severity of symptoms of heart failure in patients with low gradient aortic stenosis and preserved left ventricular ejection fraction

The aims of this study were to investigate the clinical outcomes of patients with low-gradient aortic stenosis despite preserved left ventricular ejection fraction and to assess reliable prognostic clinical-instrumental features in patients experiencing or not experiencing aortic valve replacement (AVR). Clinical-laboratory and echocardiographic data from 167 patients (median age 78 years, interquartile range 69 to 83) with aortic valve areas 70 years showed a trend toward being a prognostic predictor (p = 0.082). In conclusion, in patients with low-gradient aortic stenosis despite a preserved left ventricular ejection fraction, AVR was strongly correlated with a better prognosis. Patients with atrial fibrillation associated with advanced New York Heart Association class had the worst prognosis if treated medically but at the same time a relative better benefit from surgical intervention

Early right ventricular response to cardiac resynchronization therapy: Impact on clinical outcomes

AIMS: Right ventricular (RV) dysfunction has been associated with a worse outcome in heart failure patients undergoing CRT. However, evidence on the RV response to CRT is controversial and there are no data regarding the early effects of CRT on RV function (RVF). We sought to investigate whether a CRT device favourably influences the RVF acutely after implantation, impacting on long-term outcomes. METHODS AND RESULTS: Patients who successfully underwent CRT device implantation from January 2005 to January 2014 were retrospectively analysed. RV dysfunction was defined by an RV fractional area change <35%. Post-procedural echocardiographic evaluation was performed at a median time of 2 days (interquartile range 1-6 days). The primary endpoint was a composite of all-cause mortality and urgent heart transplantation. A total of 194 patients with available pre- and post-procedural RVF assessment were included. Sixty-two (32%) presented an impaired RVF before the procedure. Of them, 32% showed prompt normalization of RVF following CRT. This occurred in parallel with a large improvement in pulmonary arterial pressure, mitral regurgitation, E/E' ratio, and diastolic function. Pre-implantation independent predictors of early RVF normalization were LBBB (P = 0.034) and higher systolic blood pressure (P = 0.026). Improvement in RVF was independently associated with a better long-term prognosis at multivariable analysis [hazard ratio 0.124; 95% confidence interval 0.016-0.966, P = 0.04). CONCLUSIONS: Acute normalization of RVF can be observed after CRT along with haemodynamic improvement, and therefore can be used as an independent predictor of transplant-free survival