Lech Paluszkiewicz

Assessment of right ventricular dysfunction predictors before the implantation of a left ventricular assist device in end-stage heart failure patients using echocardiographic measures (ARVADE): Combination of left and right ventricular echocardiographic variables

BACKGROUND Right ventricular failure (RVF) is a major cause of morbidity and mortality in left ventricular assist device (LVAD) recipients. OBJECTIVES To identify preoperative echocardiographic predictors of post-LVAD RVF. METHODS Data were collected for 42 patients undergoing LVAD implantation in Germany. RVF was defined as the need for placement of a temporary right ventricular assist device or the use of inotropic agents for 14 days. Data for RVF patients were compared with those for patients without RVF. A score (ARVADE) was established with independent predictors of RVF by rounding the exponentiated regression model coefficients to the nearest 0.5. RESULTS RVF occurred in 24 of 42 LVAD patients. Univariate analysis identified the following measurements as RVF risk factors: basal right ventricular end-diastolic diameter (RVEDD), minimal inferior vena cava diameter, pulsed Doppler transmitral E wave (Em), Em/tissue Doppler lateral systolic velocity (SLAT) ratio and Em/tissue Doppler septal systolic velocity (SSEPT) ratio. Em/SLAT≥18.5 (relative risk [RR] 2.78, 95% confidence interval [CI] 1.38-5.60; P=0.001), RVEDD≥50 mm (RR 1.97, 95% CI 1.21-3.20; P=0.008) and INTERMACS (Interagency Registry for Mechanically Assisted Circulatory Support) level 1 (RR 1.74, 95% CI 1.04-2.91; P=0.04) were independent predictors of RVF. An ARVADE score>3 predicted the occurrence of post-implantation RVF with a sensitivity of 89% and a specificity of 74%. CONCLUSION The ARVADE score, combining one clinical variable and three echocardiographic measurements, is potentially useful for selecting patients for the implantation of an assist device.

Impact of inodilator drugs on echocardiographic assessments of left ventricular filling pressure in patients with decompensated end-stage heart failure*.

Objectives:We investigated the impact of inodilators on the accuracy of E/e′ ratio as a surrogate for pulmonary artery occlusion pressure in patients with decompensated end-stage systolic heart failure. Setting:The ratio of early diastolic transmitral flow velocity to tissue Doppler mitral annular early diastolic velocity, E/e′, and pulmonary artery occlusion pressure have been shown to be correlated. The validity of E/e′ for predicting pulmonary artery occlusion pressure in patients with decompensated end-stage systolic heart failure was recently challenged, but the influence of inodilators was not taken into account, despite the reported influence of these drugs on left ventricular relaxation properties. Patients and Intervention:Invasive hemodynamic monitoring and echocardiographic data were collected prospectively from 39 patients with decompensated end-stage systolic heart failure (92% male), aged 56 ± 13 years. These patients had dilated ventricles with a low cardiac index (1.9 ± 0.6 L/min/m2) and high pulmonary artery occlusion pressure (22 ± 8 mm Hg), and 90% required inodilator support during hospitalization. Measurements and Main Results:The correlation between septal E/e′ and pulmonary artery occlusion pressure was good for examinations in the absence of inodilators (n = 21) (r = 0.7; p < 0.001), but no correlation was found when inodilators were used (n = 31). Lateral and mean E/e′ were poorly correlated with pulmonary artery occlusion pressure, if at all, in both cases. Conclusions:By modifying ventricular relaxation properties and the influence of filling pressure on e′, inodilator agents severely impair the correlation between E/e′ and pulmonary artery occlusion pressure in patients with decompensated end-stage systolic heart failure.

The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart disease characterized by diastolic dysfunction and atrial enlargement. The genetic etiology of RCM is not completely known. We identified by a next‐generation sequencing panel the novel CRYAB missense mutation c.326A>G, p.D109G in a small family with RCM in combination with skeletal myopathy with an early onset of the disease. CRYAB encodes αB‐crystallin, a member of the small heat shock protein family, which is highly expressed in cardiac and skeletal muscle. In addition to in silico prediction analysis, our structural analysis of explanted myocardial tissue of a mutation carrier as well as in vitro cell transfection experiments revealed abnormal protein aggregation of mutant αB‐crystallin and desmin, supporting the deleterious effect of this novel mutation. In conclusion, CRYAB appears to be a novel RCM gene, which might have relevance for the molecular diagnosis and the genetic counseling of further affected families in the future.

Tricuspid valve repair in patients with left-ventricular assist device implants and tricuspid valve regurgitation: propensity score-adjusted analysis of clinical outcome

OBJECTIVES In end-stage heart failure patients with left-ventricular assist device implantation and tricuspid valve (TV) regurgitation grade >2, the surgical strategy for TV regurgitation is unclear at present. We aimed to compare clinical outcomes in patients receiving left-ventricular assist device (LVAD) implants with or without TV repair (TVR). METHODS We included 58 patients with TV regurgitation grade >2 in our data analysis. Thirty-two patients received TVR during LVAD implantation (TVR+ group), whereas 26 patients did not receive TVR (TVR- group). We assessed demographic and various preoperative clinical and echocardiographic parameters in both groups. The primary end-point was survival up to 1 year. Secondary end-points were the incidence of prolonged mechanical ventilatory support, rethoracotomy, early and late right heart failure and liver or kidney failure. RESULTS Preoperatively, the two groups differed according to heart failure diagnosis, need for inotropic support and haemodynamic/echocardiographic parameters such as transpulmonary gradient, cardiac index and the ratio of the right-ventricular end-diastolic diameter to the left-ventricular end-diastolic diameter. The survival rate up to 1 year was 53.1% in the TVR+ group and 73.1% in the TVR- group (P = 0.176). The propensity score (PS)-adjusted 1-year mortality risk with the TVR- group as a reference was 3.05 for the TVR+ group (95% confidence interval: 0.84-11.11; P = 0.091). Secondary end-points did not differ significantly between study groups. CONCLUSIONS Data indicate that end-stage heart failure patients with TV regurgitation grade >2 undergoing LVAD implants do not benefit from concomitant TVR. Results have to be confirmed by prospective studies.

Thrombosis of the LVAD inflow cannula detected by transthoracic echocardiography: 2D and 3D thrombus visualization.

(Echocardiography 2011;28:E194‐E195)

A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy

DES mutations cause different cardiac and skeletal myopathies. Most of them are missense mutations.

Paraprosthetic leak closure 28 years after mitral caged-ball Starr-Edwards implantation

In this case report, we present a patient 28 years after mitral valve replacement with the Starr-Edwards prosthesis complicated by periprosthetic leak with severe aortic stenosis and moderate tricuspid regurgitation. We successfully repaired the periprosthetic regurgitation in a patient with extensive mitral annular calcification, without replacement of the valve. No apparent structural deterioration on the caged-ball valve was found. Moreover, aortic valve replacement and tricuspid annuloplasty were performed. One month after reoperation, the patient remained stable with improved clinical status and without any evidence for further paravalvular leak.

Asymptomatic Rupture of the Left Ventricle

We present the case of an asymptomatic, 75-year-old female in whom perforation of the left ventricle and formation of a pseudoaneurysm was found on transesophageal echocardiography 2 months after mitral valve replacement. Patient history showed a mitral valve reconstruction with ring implantation 16 years ago. She developed severe mitral valve regurgitation, and mitral valve replacement was performed. A mitral bioprosthesis (St. Jude Medical, Epic 29) was implanted successfully. During surgery, it was difficult to remove the annuloplasty ring. The annulus itself was very brittle. The pledged sutures were placed in the ventricle to address this issue. The postoperative course was uneventful, and transthoracic echocardiographic examination at discharge did not reveal any pathologies (Figure 1; Movie I in the online-only Data Supplement). Two months later, she was admitted to the hospital because of a new onset of atrial fibrillation. On transthoracic echocardiographic examination, we found a normally functioning mitral valve prosthesis (mean pressure gradient, 5 mm Hg; mitral valve area, 2.9 cm2). The left ventricle was normal, with good global and regional systolic function; however, in the parasternal long-axis view, a round, hypoechoic space could be seen below the mitral valve ring (Figure 2; Movie II in the online-only Data Supplement). On transesophageal echocardiography performed before cardioversion, a hypoechogenic space located between the anterior wall of the left ventricle and the left atrial appendage was found (Figure 3; Movie III in the online-only Data Supplement). The color Doppler examination disclosed the presence of flow inside this space (Figures 4 and 5; Movies IV and V in the online-only Data Supplement). Using a …

Management of end-stage heart failure patients with or without ventricular assist device: an observational comparison of clinical and economic outcomes

OBJECTIVES Heart transplantation (HT) and ventricular assist devices (VAD) for the management of end-stage heart failure have not been directly compared. We compare the outcomes and use of resources with these 2 strategies in 2 European countries with different allocation systems. METHODS We studied 83 patients managed by VAD as the first option in Bad Oeynhausen, Germany (Group I) and 141 managed with either HT or medical therapy, as the first option, in Paris, France (Group II). The primary end-point was 2-year survival. Kaplan-Meier analyses were performed after the application of propensity score weights to mitigate the effects of non-random group assignment. The secondary end-points were resource utilization and costs. Subgroup analyses were performed for patients undergoing HT and patients treated with inotropes at the enrolment time. RESULTS The Group I patients were more severely ill and haemodynamically compromised, and 28% subsequently underwent HT vs 55% primary HT in Group II, P < 0.001. The adjusted probability of survival was 44% in Group I vs 70% in Group II, P <0.0001. The mean cumulated 2-year costs were €281 361 ± 156 223 in Group I and €47 638 ± 35 061 in Group II, P < 0.0001. Among patients who underwent HT, the adjusted probability of survival in Group I (n = 23) versus Group II (n = 78) was 76% versus 68%, respectively (0.09), though it differed in the inotrope-treated subgroups (77% in Group I vs 67% in Group II, P = 0.04). CONCLUSIONS HT should remain the first option for end-stage heart failure patients, associated with improved outcomes and better cost-effectiveness profile. VAD devices represent an option when transplant is not possible or when patient presentation is not optimal.

High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation

Cardiomyopathies might lead to end-stage heart disease with the requirement of drastic treatments like bridging up to transplant or heart transplantation. A not precisely known proportion of these diseases are genetically determined. We genotyped 43 index-patients (30 DCM, 10 ARVC, 3 RCM) with advanced or end stage cardiomyopathy using a gene panel which covered 46 known cardiomyopathy disease genes. Fifty-three variants with possible impact on disease in 33 patients were identified. Of these 27 (51%) were classified as likely pathogenic or pathogenic in the MYH7, MYL2, MYL3, NEXN, TNNC1, TNNI3, DES, LMNA, PKP2, PLN, RBM20, TTN, and CRYAB genes. Fifty-six percent (n = 24) of index-patients carried a likely pathogenic or pathogenic mutation. Of these 75% (n = 18) were familial and 25% (n = 6) sporadic cases. However, severe cardiomyopathy seemed to be not characterized by a specific mutation profile. Remarkably, we identified a novel homozygous PKP2-missense variant in a large consanguineous family with sudden death in early childhood and several members with heart transplantation in adolescent age.