Systolic longitudinal global and segmental myocardial mechanics in symptomatic isolated left ventricular non-compaction cardiomyopathy.

BACKGROUND: Left ventricular (LV) non-compaction cardiomyopathy (LV-NC) is rare, and data of segmental myocardial mechanics are largely lacking. We investigated myocardial longitudinal mechanics in adults with symptomatic LV-NC (n = 30) versus individuals with healthy hearts (n = 150). The contribution of compacted and non-compacted myocardial layer to systolic LV function has to be determined. METHODS: Seven parameters derived from speckle tracking echocardiography were evaluated and documented utilizing polar-diagrams to obtain overviews of myocardial mechanics of the entire LV. RESULTS: According to embryonal myocardial development, non-compacted myocardium was mostly located in mid-ventricular and apical segments of the free LV wall. LV ejection fraction was reduced in LV-NC (34 ± 15%, healthy 63 ± 5%, P < .0001). The compact wall layer in LV-NC demonstrated increasing systolic radial thickness (diastolic 5.6 ± 1.4, systolic 6.5 ± 1.4mm, P = .016), whereas the non-compacted layer remained unchanged or tended to decrease in thickness (diastolic 17.6 ± 5.3, systolic 16.0 ± 4.6mm, P = .22). Compared with heart-healthy individuals in LV-NC peak systolic longitudinal strain (healthy -21.1% vs. LV-NC -8.8, P < .0001), peak systolic longitudinal strain-rate (-1.23%/s vs. -0.64, P < .0001), and peak longitudinal displacement (12.1 vs. 5.6 mm, P < .0001) were reduced, while pre-systolic stretch index (1.31% vs. 3.2%, P < .0001) and post-systolic index (2.5% vs. 15.9%, P < .0001) increased. Time-to-peak longitudinal strain (371 vs. 389 ms, P = .065) and time-to-peak longitudinal strain rate (181 vs. 200 ms, P = .0677) did not differ significantly. In LV-NC, there were no significant differences between analyses using an interpolated endocardial border along the edges of the recesses and the endocardial edge of the compact wall layer. Hence, LV function appeared to depend only on the thin compact wall layer. CONCLUSION: In LV-NC, myocardial efficiency is severely diminished compared with healthy controls and LV function seemed to depend mainly on the compact myocardial wall layer.

Short- and long-term outcomes of alcohol septal ablation for hypertrophic obstructive cardiomyopathy in patients with mild left ventricular hypertrophy: a propensity score matching analysis.

AIMS: Based on European guidelines, alcohol septal ablation (ASA) for hypertrophic obstructive cardiomyopathy (HOCM) is indicated only in patients with interventricular septum (IVS) thickness >16 mm. The aim of this study was to evaluate the short- and long-term outcomes in ASA patients with mild hypertrophy (IVS ≤ 16 mm). METHODS AND RESULTS: We retrospectively evaluated 1505 consecutive ASA patients and used propensity score to match 172 pairs (344 patients) in groups IVS ≤ 16 mm or IVS > 16 mm. There was no occurrence of post-ASA ventriculoseptal defect in the whole cohort (n = 1505). Matched patients had 30-day mortality rate 0% in IVS ≤ 16 mm group and 0.6% in IVS > 16 mm group (P = 1). Patients in IVS ≤ 16 mm group had more ASA-attributable early complications (16% vs. 9%; P = 0.049), which was driven by higher need for pacemaker implantation (13% vs. 8%; P = 0.22). The mean follow-up was 5.4 ± 4.3 years and the annual all-cause mortality rate was 1.8 and 3.2 deaths per 100-patient-years in IVS ≤ 16 group and IVS > 16 group, respectively (log-rank test P = 0.04). There were no differences in symptom relief and left ventricular (LV) gradient reduction. Patients with IVS ≤ 16 mm had less repeated septal reduction procedures (log-rank test P = 0.03). CONCLUSION: Selected patients with HOCM and mild hypertrophy (IVS ≤ 16 mm) had more early post-ASA complications driven by need for pacemaker implantation, but their long-term survival is better than in patients with IVS >16 mm. While relief of symptoms and LV obstruction reduction is similar in both groups, a need for repeat septal reduction is higher in patients with IVS > 16 mm.

Fabry disease: Detection of Alu-mediated exon duplication by NGS.

Monogenetic diseases can be analyzed routinely by targeted DNA sequencing. If causative variants are not found, complementary methods like RNA sequencing or analysis of copy number variations by multiplex ligation-dependent probe amplification have to be considered. In the latter, especially exonic duplications or deletions can be detected, but the precise sites of mutations remain unclear. As we demonstrate in this casuistic report of Fabry disease, next-generation sequencing (NGS) of a long-range PCR product can identify the recombination site directly and illuminate the underlying molecular mechanism.

Validation of the HCM Risk-SCD model in patients with hypertrophic cardiomyopathy following alcohol septal ablation.

Aims: The HCM Risk-SCD model for prediction of sudden cardiac death (SCD) in hypertrophic cardiomyopathy recommended by the 2014 European Society of Cardiology (ESC) guidelines has not been validated after septal reduction therapy. The aim of this study was to validate the HCM Risk-SCD model in patients undergoing alcohol septal ablation (ASA) and to compare its performance to previous models. Methods and result: A total of 844 ASA patients without prior SCD event were included. The primary endpoint was a composite of SCD and appropriate implantable cardioverter defibrillator (ICD) therapy, identical to the HCM Risk-SCD endpoint. A distinction between periprocedural (≤30 days) and long-term (>30 days) SCD was made to discern procedure-related adverse arrhythmic events caused by the ASA-induced myocardial infarction from long-term SCD risk. Twenty patients reached the SCD endpoint within the first 30 days. During a follow-up of 6.5 ± 4.2 years, another 46 patients reached the SCD endpoint. The predicted 5-year SCD risk according to the HCM Risk-SCD model was 5.1%, and the observed 5-year SCD risk was 4.0%. The C-statistics for the use of the HCM Risk-SCD model was 0.61 (P = 0.02), the C-statistics for the use of the 2003 American College of Cardiology/ESC guidelines was 0.59 (P = 0.051), and the C-statistic for the use of the 2011 American College of Cardiology Foundation/American Heart Association guidelines was 0.58 (P = 0.054). Maximal left ventricular wall thickness, syncope after ASA, and fulfilling the 2014 ESC recommendations for primary ICD implantation according to the HCM Risk-SCD model, respectively, predicted SCD during long-term follow-up. Conclusion: The HCM Risk-SCD model can be used for SCD prediction in patients undergoing ASA.

Physiological left ventricular segmental myocardial mechanics: Multiparametric polar mapping to determine intraventricular gradients of myocardial dynamics.

OBJECTIVE: We investigated physiological systolic left ventricular (LV) myocardial mechanics and gradients to provide a database for later studies of diseased hearts. METHODS: The analyses were performed in 131 heart-healthy individuals and included seven parameters of myocardial mechanics using speckle tracking echocardiography (STE). RESULTS: Basal to apical and circumferentially significant physiological intraventricular parameter gradients of myocardial activity were determined. Global mean values and segmental ranges were peak systolic longitudinal strain -21.2 ± 3.3%, 95% confidence interval [CI] -21.8% to -20.6%), gradient (basal to apical) -16.0% to -26.7%; peak systolic longitudinal strain rate -1.24 ± 0.31%/s, 95% CI -1.29% to -1.19%/s, gradient (basal to apical) -0.91% to -1.61%/s; post-systolic index 2.6 ± 3.2%, 95% CI 3.15%-2.05%, gradient (basal/medial/apical) 7.0/1.2/2.4%; pre-systolic stretch index 1.3 ± 2.7%, 95% CI 1.77%-0.83%, gradient (basal/medial/apical) 6.5/0.2/1.3%; peak longitudinal displacement 12.2 ± 2.6 mm, 95% CI 12.6-11.8 mm, gradient (basal to apical) 21.0-3.4 mm; time-to-peak longitudinal strain 370 ± 43 ms, 95% CI 377-363 ms, gradient (basal to apical) 396-361 ms; and time-to-peak longitudinal strain rate 180 ± 47 ms, 95% CI 188-172 ms, gradient (basal to apical) 150-200 ms. CONCLUSION: This study generated a database of seven STE-derived parameters of physiological segmental and global myocardial LV mechanics. The resulting sets of three-dimensional intraventricular mappings of the entire LV provide physiological parameter gradients in baso-apical and circumferential direction by applying the 17-segment polar model. This will facilitate comparison of systolic myocardial activity of the healthy LV with diseased or otherwise altered (eg, sports) hearts.

Impact of procedure-related conduction disturbances after transcatheter aortic valve implantation on myocardial performance and survival evaluated by conventional and speckle tracking echocardiography.

OBJECTIVES: Although procedure-related new cardiac conduction disturbances (CCDs) remain an important issue in transcatheter aortic valve implantation (TAVI), their effect on myocardial function and overall patient outcome remains unclear. The goal of this study was to analyze the influence of procedure-related CCDs on systolic and diastolic LV performance and on patient survival after TAVI. METHODS AND RESULTS: Ninety-five patients who underwent TAVI for severe symptomatic aortic stenosis (AS) and had a complete follow-up were evaluated with respect to procedure-related CCDs. Left ventricular (LV) performance was measured using standard echocardiographic parameters and speckle tracking analysis. Survival was assessed during longer-term follow-up (mean: 29.1 ± 16.9 months). After TAVI, the improvement of global LV function expressed as ejection fraction (LVEF; from 45.5 ± 10.0 to 47.8 ± 13.9%, P = .13) was not significant. New CCDs were found in 35.7% of TAVI recipients. A comparison between patients with and without new CCDs showed that LV systolic function improved in those without CCDs, while it tended to deteriorate in patients with CCDs (change in LVEF: 5.5 ± 12.3% vs -4.9% ± 11.5%, P = .001; change in global longitudinal strain (GLS): -1.1 ± 4.6% vs 1.2 ± 4.5%, P = .01). Changes in diastolic function did not differ significantly between the groups (changes in transmitral E/A-ratio: -0.3 ± 0.6 vs -0.5 ± 0.5, P = .1). Kaplan-Meier survival analysis revealed no significant differences between the two cohorts (P = .795). CONCLUSION: Procedure-related conduction abnormalities after TAVI lead to an LBBB-related dyssynchrony with impairment of LV performance but not of overall survival.

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.

Long-term clinical outcome after alcohol septal ablation for obstructive hypertrophic cardiomyopathy: results from the Euro-ASA registry.

AIMS: The first cases of alcohol septal ablation (ASA) for obstructive hypertrophic cardiomyopathy (HCM) were published two decades ago. Although the outcomes of single-centre and national ASA registries have been published, the long-term survival and clinical outcome of the procedure are still debated. METHODS AND RESULTS: We report long-term outcomes from the as yet largest multinational ASA registry (the Euro-ASA registry). A total of 1275 (58 ± 14 years, median follow-up 5.7 years) highly symptomatic patients treated with ASA were included. The 30-day post-ASA mortality was 1%. Overall, 171 (13%) patients died during follow-up, corresponding to a post-ASA all-cause mortality rate of 2.42 deaths per 100 patient-years. Survival rates at 1, 5, and 10 years after ASA were 98% (95% CI 96-98%), 89% (95% CI 87-91%), and 77% (95% CI 73-80%), respectively. In multivariable analysis, independent predictors of all-cause mortality were age at ASA (P < 0.01), septum thickness before ASA (P < 0.01), NYHA class before ASA (P = 0.047), and the left ventricular (LV) outflow tract gradient at the last clinical check-up (P = 0.048). Alcohol septal ablation reduced the LV outflow tract gradient from 67 ± 36 to 16 ± 21 mmHg (P < 0.01) and NYHA class from 2.9 ± 0.5 to 1.6 ± 0.7 (P < 0.01). At the last check-up, 89% of patients reported dyspnoea of NYHA class ≤2, which was independently associated with LV outflow tract gradient (P < 0.01). CONCLUSIONS: The Euro-ASA registry demonstrated low peri-procedural and long-term mortality after ASA. This intervention provided durable relief of symptoms and a reduction of LV outflow tract obstruction in selected and highly symptomatic patients with obstructive HCM. As the post-procedural obstruction seems to be associated with both worse functional status and prognosis, optimal therapy should be focused on the elimination of LV outflow tract gradient.

Echocardiographically derived effective valve opening area in mitral prostheses: a comparative analysis of various calculations using continuity equation and pressure half time method.

Detection of dysfunctional mitral valve prostheses (MP) remains complex even though being optimized by considering echocardiographically derived prosthetic effective orifice area (VA). The purpose was to compare VA in MP, calculated by the continuity equation (CE) using peak velocities (CEVpeak), mean velocities (CEVmean), velocity-time integrals (CEVTI) and the pressure half time method using 220 ms as constant first (PHT220) as well as optimized constants. In 267 consecutive patients with normally functioning MP, we investigated VA within the first postoperative month. With increasing prosthetic sizes, mean VA values also increase in all calculations. The statistical curves demonstrate no significant difference in graphical steepness but show different levels. Comparison of mean VA showed the known systematic higher values of PHT220 and significantly decreased results when using CEVTI. This systematic difference between mean VA applying PHT220 versus CEVTI is approximately 1.0 cm(2) for all prosthetic sizes. Calculations via CEVpeak were close to the results of CEVTI. CEVmean produced values, which graphically correspond to the PHT220 curve. Only PHT220 detected the constructional equal prosthetic inner ring width between 29 and 31 mm. To compensate the systematic difference between CEVTI and PHT220, an optimized constant of 140 ms was calculated to be applied in PHT (PHT140). VA is a robust and, therefore, preferable parameter for investigating MP. If needed, both CE and PHT are applicable with a systematical difference between CEVTI and PHT220. An optimized constant of 140 ms (PHT140) should be applied when calculating VA of mitral valve prostheses via PHT.

Myocardial Fibrosis in Hypertrophic Cardiomyopathy: Volumetric Assessment of Late Enhancement Provided by Cardiac Computed Tomography.

INTRODUCTION: With subgroups of patients with hypertrophic cardiomyopathy (HCM) confers a 4% to 5% risk for adverse prognosis. Besides left-ventricular muscle mass (LV-MM) myocardial fibrosis (MF) assessable by late gadolinium enhancement in cardiovascular magnetic resonance (LGE-CMR) has been related to that. Myocardial fibrosis can also be demonstrated by late enhancement (LE) in late-enhanced multislice computed tomography (leMDCT). This analysis investigates leMDCT whether to enable quantification of LE load in terms of LE mass by percent LV-MM in HCM. METHODS: In a prospective validation study, we included 30 consecutive patients with HCM who underwent leMDCT (64 slice) and LGE-CMR (1.5 T). The leMDCT scan was performed 7 minutes after injection of iodine contrast (Iopromid). Endocardial and epicardial planimetry served for the assessment of LV-MM. Visually detectable LE was quantified using the manual quantification method resulting in LE by percent LV-MM (%LE). The LGE-CMR data served for validation. RESULTS: Mean (SD) age was 64.1 (13.9) years. Myocardial fibrosis prevalence was 63.3% (19/30 patients indentified by both leMDCT and LGE-CMR). In leMDCT, tissue density in LE areas compared with normal myocardium was higher (138.2 [23.9] HU vs 98.4 [16.5] HU, P < 0.001) but lower than in the LV cavity (138.2 [23.9] HU vs 169.2 [35.9] HU, P < 0.001). Late enhancement mass in leMDCT seemed to be 7.9 (8.5) g LE versus 8.6 [11] g LGE in CMR (P = 0.497, r = 0.95) resulting in a leMDCT/LGE-CMR relation of 1.2. Referring LE mass to LV-MM gave an LE proportion measured by leMDCT of 4 (3.9) %LE versus 3.9 (4.1) %LGE in LGE-CMR (r = 0.88, P = 0.75). Intraobserver/interobserver reliability of LE mass assessment showed an intraclass correlation coefficient of 0.99 and 0.97. CONCLUSIONS: In patients with HCM, leMDCT provides volumetric assessment of LE mass-absolutely and by percent LV-MM.

A differentiated morphological parameter-coding system to describe the suitability of mitral valve stenoses intended for percutaneous valvotomy.

Percutaneous balloon-mitral-valvotomy (PBMV) is an alternative to surgery in selected patients with mitral valve (MV) stenosis (MS). Applying echocardiography, suitability for PBMV is assessed by detailed morphological description. Echo-scores alone are suboptimal to describe MV morphology, because single parameters, important for a decision concerning PBMV, are not distinguishable out of a score number. The aim was to design a tool (coding-system), which combines a number for a stenotic MV like scores (for statistical options) and decodable, generally applied parameters describing the MS morphology. The reproducibility of the MS morphology using the coding-system has to be tested in 90 patients. A separate group of 297 patients (pts) with MS, scheduled for PBMV, should be investigated prospectively applying the coding-system and a comparable score. We chose the Wilkins score (WS) as representative of scores. The coding-system is designed as a parameter sequencing set consisting of 6 digits. The first digit indicates a decision code concerning suitability for PBMV. The following 5 digits indicate generally accepted morphological parameters, which are partially also used in the WS. Therefore, the MS morphology can be "read" retrospectively by decoding. 201/297 patients were found suitable for PBMV. Applying the coding-system all 201 suitable patients were correctly distinguished from 96 morphologically unsuitable patients. Astonishingly 48/96 of the rejected patients showed a WS ≤8 whereas 28/201 of the suitable patients demonstrated a WS >8. 25/28 of them showed a successful initial outcome. Applying the generally known threshold of "8" when predicting suitability of a MS, the WS demonstrated an initial success rate of 62 %, sensitivity of 0.87, specificity of 0.45, precision of 0.79, and accuracy of 0.78. Applying the coding-system, the initial success rate was 70.8 %, sensitivity = 0.96, specificity = 1.0, precision = 1.0, and accuracy = 0.97. The coding-system is an advanced diagnostic aid, is statistically applicable, offers a decodable morphological description, includes a decision code regarding suitability for PBMV, and can be used for comparing different groups of patients with MS by calculating "mean morphologies" of groups.

Echocardiographic particle image velocimetry for the evaluation of diastolic function in hypertrophic nonobstructive cardiomyopathy.

AIMS: To use particle image velocimetry (PIV) echocardiography for the evaluation of diastolic dysfunction (DD) in patients with hypertrophic nonobstructive cardiomyopathy (HNCM). METHODS: This study included 50 individuals, thereof 30 patients with DD due to HNCM and 20 healthy individuals who served as controls. HNCM patients were divided into 3 groups according to DD severity. All subjects underwent clinical assessment, exercise testing, and standard as well as PIV echocardiography. RESULTS: Energy dissipation was higher in DD patients than in the control group. The severity of flow pattern disturbance corresponded to the degree of DD. In a subgroup of 20 HNCM patients we found significant correlations between invasive measured left ventricular end-diastolic pressure and noninvasive PIV parameters for intraventricular pressure differences and filling. Inter-observer variability (mean difference ± 1.96 SD) for all tested PIV measurements was good. CONCLUSION: According to DD severity, patients with HNCM have disturbed intraventricular flow and reduced intraventricular pressure differences, consistent with a reduced intraventricular suction. PIV echocardiography appears to be feasible for detailed analysis of ventricular vortex flow in DD conditions. Further research using PIV echocardiography in different cardiac pathologies seems warranted.

Evaluation of left ventricular torsion in children with hypertrophic cardiomyopathy.

AIMS: To evaluate the role of torsion in hypertrophic cardiomyopathy in children. METHODS: A total of 88 children with idiopathic hypertrophic cardiomyopathy (n = 24) and concentric hypertrophy (n = 20) were investigated with speckle-tracking echocardiography and compared with age- and gender-matched healthy controls (n = 44). RESULTS: In hypertrophic cardiomyopathy, we found increased torsion (2.8 ± 1.6 versus 1.9 ± 1.0°/cm [controls], p < 0.05) because of an increase in clockwise basal rotation (-8.7 ± 4.3° versus -4.9 ± 2.5° [controls], p < 0.001) and prolonged time to peak diastolic untwisting (3.7 ± 2.4% versus 1.7 ± 0.6% [controls] of cardiac cycle, p < 0.01), but no differences in peak untwisting velocities. Hypertrophic cardiomyopathy patients demonstrated a negative correlation between left ventricular muscle mass and torsion (r = -0.7, p < 0.001). In concentric hypertrophy, torsion was elevated because of increased apical rotation (15.1 ± 6.4° versus 10.5 ± 5.5° [controls], p < 0.05) without correlation with muscle mass. Peak untwisting velocities (- 202 ± 88 versus -145 ± 67°/s [controls], p < 0.05) were higher in concentric hypertrophy and time to peak diastolic untwisting was delayed (1.8 ± 0.8% versus 1.2 ± 0.6% [controls], p < 0.05). CONCLUSIONS: In contrast to an increased counterclockwise apical rotation in concentric hypertrophy, hypertrophic cardiomyopathy is characterised by predominantly enhanced systolic basal clockwise rotation. Diastolic untwisting is delayed in both groups. Torsion may be an interesting marker to guide patients with hypertrophic cardiomyopathy.

Echocardiographic mechanical dyssynchrony predicts long-term mortality in patients with cardiac resynchronisation therapy.

Cardiac resynchronisation therapy (CRT) is an established treatment for patients with symptomatic heart failure with reduced left ventricular ejection fraction (LVEF ≤ 35%; HFrEF) and conduction disturbances (QRS duration ≥ 130 ms). The presence of mechanical dyssynchrony (MD) on echocardiography has been hypothesised to be of predictive value in determining indication for CRT. This study investigated the impact of MD (apical rocking [AR] and septal flash [SF]) on long-term survival in CRT recipients. HFrEF patients (n = 425; mean age 63.0 ± 10.6 years, 72.3% male, 60.7% non-ischaemic aetiology) with a guideline-derived indication for CRT underwent device implantation. MD markers were determined at baseline and after a mean follow-up of 11.5 ± 8.0 months; long-term survival was also determined. AR and/or SF were present in 307 (72.2%) participants at baseline. During post-CRT follow-up, AR and/or SF disappeared in 256 (83.4%) patients. Overall mean survival was 95.9 ± 52.9 months, longer in women than in men (109.1 ± 52.4 vs. 90.9 ± 52.4 months; p < 0.001) and in younger (< 60 years) versus older patients (110.6 ± 53.7 vs. 88.6 ± 51.1 months; p < 0.001). Patients with versus without MD markers at baseline generally survived for longer (106.2 ± 52.0 vs. 68.9 ± 45.4 months; p < 0.001), and survival was best in patients with resolved versus persisting MD (111.6 ± 51.2 vs. 79.7 ± 47.6 months p < 0.001). Age and MD at baseline were strong predictors of long-term survival in HFrEF patients undergoing CRT on multivariate analysis. Novel echocardiography MD parameters in HFrEF CRT recipients predicted long-term mediated better outcome, and survival improved further when AR and/or SF disappear after CRT implantation.

Balloon expandable sheath for transfemoral aortic valve implantation: a viable option for patients with challenging access.

BACKGROUND AND OBJECTIVES: Transcatheter aortic valve replacement (TAVR) via femoral access is a new option for patients with severe aortic valve stenosis considered to be at high risk for conventional open-heart surgery. This procedure requires peripheral arteries that are able to accommodate the large sheaths required for valve delivery. We present a series of patients with suboptimal vascular conditions, who received a self-expandable vascular sheath. METHODS AND RESULTS: From January 2009 to September 2011, a total of 96 patients (43% male) were treated with the 18F Medtronic CoreValve (Medtronic, Minneapolis, MN, USA). The patients' average age was 82.5 ± 4.6 years, and the mean EuroSCORE was 29%. In eight cases, vascular conditions were inadequate either due to advanced atherosclerotic disease (n = 5, 62.5%), or an arterial diameter ≤7 mm (n = 3, 37.5%). Instead of the standard 18F sheath, a balloon-expandable transfemoral introducer (SoloPath Introducer, Onset Medical Corporation, Irvine, CA, USA) was delivered and removed without complications in all but one (87.5%) patient. In the last case, rupture of the right femoral artery occurred after removal of the sheath with the need of vascular surgery. CONCLUSION: The SoloPath sheath is a feasible alternative to conventional sheaths for transfemoral TAVR patients with difficult femoral vascular access.

Left ventricular dyssynchrony predicts clinical response to CRT - a long-term follow-up single-center prospective observational cohort study.

BACKGROUND: Until now, there is no consensus regarding the definition of a clinical response to cardiac resynchronization therapy (CRT) in patients with chronic heart failure (CHF) and systolic left ventricular (LV) dysfunction. The aim of this study was to evaluate if echocardiography is predictive for an objective improvement in exercise capacity during long-term follow-up of CRT. METHODS: Each patient underwent echocardiography and spiroergometry both at baseline and at last follow-up. Left ventricular dyssynchrony (LVD) before CRT was defined by tissue Doppler imaging (TDI) as intra-LV delay ≥40 msec (septal-lateral or anterior-posterior). Clinical response to CRT was defined as increase of peakVO2 or as increase of maximal workload >10% as compared to baseline. RESULTS: Mean follow-up was 69 ± 37 months. From the 238 consecutive patients included in the study, 141 (59%) were classified as clinical responders and 97 (41%) as nonresponders. Baseline data of responders and nonresponders were comparable. However, clinical responders showed more often LVD (64%) than nonresponders (42%, P = 0.004). On multivariate regression analysis, nonischemic origin of CHF (ß-coefficient in the final model 0.1, P = 0.04) and LVD at baseline (ß-coefficient in the final model 0.2, P < 0.001) were independently associated with clinical response during long-term follow-up. Patients with LVD at baseline had significant more often an improvement of left ventricular ejection fraction >10% (P = 0.02) and a reduction of left ventricular end-diastolic diameter (LVEDD) >10% (P < 0.01) than patients without LVD at baseline. CONCLUSIONS: LVD at baseline as assessed by a straightforward echocardiographic approach predicts the long-term clinical response to CRT and is associated with a more pronounced reverse LV remodeling.

Elite athletes with mitral or aortic regurgitation and their cardiopulmonary capability.

BACKGROUND: Aortic or mitral valvular regurgitation (left cardiac valvular regurgitation, LCVR) of less than second-degree (< degree II) occasionally found in competitive athletes is of questionable relevance. Precisely detectable by echocardiography there is scarce published data that clarifies cardiopulmonary capacity or any limitations LCVR < degree ll may cause. METHODS: In this single-centre study we consecutively recruited highly trained athletes (n= 14) with LCVR < degree ll detected in 2D echo. Not included were athletes with multi- or right-cardiac valvular dysfunction and structural heart disease other than bicuspid aortic valve or mitral valve prolaps. Target parameters were determined by 2D echo and spiroergometry. RESULTS: There were no significant differences with regard to age and body mass index. Echocardiographically determined muscle mass index was increased in both groups (134 14.7 vs 129.6+/-27.5; P=0.69), whereas the left-ventricular end-diastolic diameter index was significant higher in the LCVR < degree II group (27.3 +/- 1.3 vs 25.2 +/- 2.4; P = 0.04). However, there were no significant differences with regard to (oxygen uptake) V02, at baseline (athletes with LCVR < degree II 5.7 +/- 0.9 vs controls 5 +/- 0.96, P= 0.06), at the anaerobic threshold (athletes with LCVR < degree II 47.3 +/-8.4 vs controls 47.4 +/- 5, P= 0.97) and maximally (VO2max; athletes with LCVR < degree II 57.7 6.3 vs controls 57.1 +/- 5.1, P= 0.81). Neither levels of lactate nor of brain natriuretic peptide differed significantly. CONCLUSION: High level athletes presenting with aortic or mitral regurgitation < degree II in are not disadvantaged with regard to their cardiopulmonary capability.

Outcomes of Alcohol Septal Ablation in Patients With Severe Left Ventricular Outflow Tract Obstruction: A Propensity Score Matching Analysis.

BACKGROUND: The current ACC/AHA guidelines on hypertrophic cardiomyopathy (HCM) caution that alcohol septal ablation (ASA) might be less effective in patients with left ventricular outflow tract obstruction (LVOTO) ≥ 100 mm Hg. METHODS: We used a multinational registry to evaluate the outcome of ASA patients according to baseline LVOTO. RESULTS: A total of 1346 ASA patients were enrolled and followed for 5.8 ± 4.7 years (7764 patient-years). The patients with baseline LVOTO ≥ 100 mm Hg were significantly older (61 ± 14 years vs 57 ± 13 years; P < 0.01), more often women (60% vs 45%; P < 0.01), and had a more pronounced HCM phenotype than those with baseline LVOTO < 100 mm Hg. There were no significant differences in the occurrences of 30-day major cardiovascular adverse events in the 2 groups. After propensity score matching (2 groups, 257 pairs of patients), the long-term survival was similar in both groups (P = 0.10), the relative reduction of LVOTO was higher in the group with baseline LVOTO ≥ 100 mm Hg (82 ± 21% vs 73 ± 26%; P < 0.01), but the residual resting LVOTO remained higher in this group (23 ± 29 mm Hg vs 13 ± 13 mm Hg; P < 0.01). Dyspnoea (NYHA functional class) at the most recent clinical check-up was similar in the 2 groups (1.7 ± 0.7 vs 1.7 ± 0.7; P = 0.85), and patients with baseline LVOTO ≥ 100 mm Hg underwent more reinterventions (P = 0.02). CONCLUSIONS: After propensity matching, ASA patients with baseline LVOTO ≥ 100 mm Hg had similar survival and dyspnoea as patients with baseline LVOTO < 100 mm Hg, but their residual LVOTO and risk of repeated procedures were higher.

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease (1/500) and the most common cause of sudden cardiac death in young people. Pathogenic mutation detection of HCM is having a growing impact on the medical management of patients and their families. However, the remarkable genetic and allelic heterogeneity makes molecular analysis by conventional methods very time-consuming, expensive and difficult to realise in a routine diagnostic molecular laboratory. METHOD AND RESULTS: The authors used their custom DNA resequencing array which interrogates all possible single-nucleotide variants on both strands of all exons (n=160), splice sites and 5'-untranslated region of 12 HCM genes (27 000 nucleotides). The results for 122 unrelated patients with HCM are presented. Thirty-three known or novel potentially pathogenic heterozygous single-nucleotide variants were identified in 38 patients (31%) in genes MYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL3 and ACTC1. CONCLUSIONS: Although next-generation sequencing will replace all large-scale sequencing platforms for inherited cardiac disorders in the near future, this HCM resequencing array is currently the most rapid, cost-effective and reasonably efficient technology for first-tier mutation screening of HCM in clinical practice. Because of its design, the array is also an appropriate tool for initial screening of other inherited forms of cardiomyopathy.

Diagnostic performance of handheld echocardiography for the assessment of basic cardiac morphology and function: a validation study in routine cardiac patients.

AIMS: To investigate the intra- and interrater variability of expert users in the interpretation of handheld echocardiographic studies (HAND). METHODS: We scanned 320 consecutive patients with both HAND and high-end (HIGH) scanners. Images were interpreted independently by two blinded level III echocardiographers. Readings from the HIGH scanner served as the gold standard. Segmental endocardial-border delineation was scored to describe image quality. Assessment of left ventricular (LV) dimensions and regional/global LV function, and grading of valve disease were compared. RESULTS: We obtained correlations of r > 0.8 (P < 0.01) for intrarater variability for both expert readers when they analyzed HAND and HIGH images in relation to image quality, wall-motion abnormalities, and LV measurements. For intrarater variability of LVEF assessment, the correlations were at least moderate (r > 0.6, P < 0.01). Interrater variability for HIGH images was r = 0.9 (P < 0.01) for all parameters. Interrater variability for HAND images was less favorable for all parameters, but was at least moderate (r > 0.6, P < 0.01). All cases of pericardial effusion were detected. The agreement for the detection and grading of mitral and aortic regurgitation was at least moderate (κ > 0.6, P < 0.01). Detection of tricuspid regurgitation was less favorable, but only cases of mild regurgitation were missed. All cases of aortic stenosis were detected by both echocardiographers. CONCLUSIONS: In relation to the basic assessment of cardiac morphology and function, the interpretation by experienced echocardiographers of images obtained using handheld echocardiographic devices showed a moderate to very good correlation with standard echocardiography.