bluuebunny/crossref_metadata_2025_split huggingface dataset:
P902Danon disease: clinical features and outcomes
Authors: Brambatti M , Esshaki Y , Vanam S , Escobedo V , Macias G , Le B , Bui Q , Ma G , Taylor M , Adler E 
Published: October 2019

Abstract

Background
Danon Disease (DD) is a rare X-linked autophagic vacuolar myopathy, characterized by high penetrance and severe cardiomyopathy; cognitive, skeletal muscle and vision impairment may occur as well. Due to its rarity, clinical presentation and outcomes are still uncertain.

Purpose
To describe clinical features and outcomes of DD in female and male patients

Methods
Individuals and families from United Kingdom, Australia, and United States were recruited through via advertisements on Facebook groups related to DD. Participants completed a survey about symptoms and medical history and provided their medical records to the research team.

Results
A total of 44 patients (54.5% female) with positive genetic testing for DD were included. De novo mutations occurred in one out of four patients. Cardiomyopathy occurred in 86.3% of patients (18/24 females, 20/20 males) at a mean age of 7.3 years for males and 19.4 years for females (p=0.001). Females presented with either hypertrophic cardiomyopathy (HCM, 66.7%) or dilated cardiomyopathy (DCM, 8.3%) whereas males presented with HCM 90% of the time. 34.2% of patients were diagnosed with Wolff-Parkinson-White syndrome.
Twelve patients (7 females, 5 males) underwent cardiac magnetic resonance (CMR) Out of the 9 cases, 8 (88.9%) exhibited extensive patchy late gadolinium-enhancement (LGE) in multiple segments of the left ventricle; 3 cases also had right ventricular LGE. Median cardiac mass index was 155 g/m2 (Q1-Q3: 70–237; v.n. 31–79 g/m2). Overall, 17 (38.6%) patients died or required or heart transplant (HTx). Median age at the time of death or HTx was 17 years and 42 years in males and females, respectively (p=0.025 by the log-rank test)
Cognitive impairment, mainly described as learning disabilities, was diagnosed in 90.0% of males (18/20) and 79.2% (19/24) of females; intelligence quotient (IQ) measurement was reported in 8 patients (3 females, 5 males) and 7 of them showed IQ below the average. Symptomatic skeletal myopathy was present in 28 (63.3%) of patients, with a higher prevalence in males (85% vs. 45.8%; p<0.01). Retinopathy was reported in 14 (31.2%) patients and occurred equally in both genders (p=0.34).

Conclusions
DD causes significant cardiac morbidity with the need for transplant at a young age; in 25% of cases DD is due to a de novo mutation. While in males DD is more frequently multisystemic with a more rapid clinical deterioration, in females the clinical presentation is variable. However, the presence of severe cases in females warrant the clinicians to screen for DD in both sexes with clinical manifestations or positive family history

Acknowledgement/Funding
Rocket Pharmaceuticals
P903Is left ventricular longitudinal strain a good pronostic factor in friedreich ataxia?
Authors: Heuze C , Legrand L , Diallo A , Monin M L , Ewenczyk C , Isnard R , Vicaut E , Durr A , Pousset F 
Published: October 2019

Abstract

Introduction
Friedreich ataxia (FRDA) is a rare genetic sensory ataxia. The causal mutation is an expanded trinucleotide repeat (GAA) in the frataxin gene. Hypertrophic cardiomyopathy is associated with FRDA and is the major cause of early death before 40 years old. Patients with progressive decline of the left ventricular ejection fraction (LVEF) have the worse prognosis. Speckle tracking echography with 2D longitudinal myocardial strain (GLS) is recognized as a more effective technique than conventional LVEF in detecting subtle changes in LV function.

Purpose
Evaluate the prognostic value of global longitudinal strain (GLS) in patients with FRDA as compared to LVEF.

Methods
From 2003 to 2017 consecutive patients with genetically confirmed FRDA were included. Longitudinal strain analysis was retrospectively performed with Tomtec software. News were obtained until April 2018, no patient was lost during follow-up.

Results
The study included 156 patients (51% male) of 35±12 years (mean ± SD) with an age at disease onset of 17±11 years, age at wheelchair use of 26±10 years, and GAA repeat on the shorter allele of 590±241 pb. The following echocardiographic parameters were studied at baseline: LVEF 64±9%, GLS −19.8±5% (n=141), septal wall thickness (SWT) 11.4±2.5 mm, posterior wall thickness (PWT) 10.4±1.8 mm, LV end diastolic diameter (LVEDD) 44.4±6mm. Correlation between GLS and LVEF was 0.31 (p=0.0002).
After a mean follow-up of 7.7±4.0 years, 17 (11%) patients died and the outcome (cardiac arrhythmia, heart failure, stroke or death) concerned 28 (18%) patients. In univariate analysis (Cox model), factors associated with mortality were: GLS (HR: 1.2; 95% CI 1.10–1.32, p=0.0001), LVEF (HR: 0.88; 95% CI 0.85–0.92, p<0.0001), GAA (HR: 1.28; 95% CI 1.11–1.47, p=0.0008), age at onset (HR: 0.84; 95% CI 0.76–0.94, p=0.002), LVMi (HR: 1.02; 95% CI 1.01–1.04, p=0.0078), SWT (HR: 1.18 95% CI 1.01–1.36, p=0.03) and LVEDD (HR: 1.09; 95% CI 1.00–1.19, p=0.04). In multivariate analysis LVEF was the only independent predictor of long-term mortality (HR: 0.93; 95% CI 0.88; 0.99, p=0.02). Similarly GLS was not an independent predictor of the composite outcome in multivariate analysis.

Conclusion
GLS is a predictor of morbimortality but is not superior to LVEF in FRDA patients. Further prospective studies are mandatory to assess the early predictive value of 2D GLS.
P904Heart rhythm and conduction disorders in children with restrictive cardiomyopathy
Authors: Vershinina T L , Yakovleva E V , Gorozhankina E U , Vasichkina E S , Nikitina I L , Pervunina T M , Kostareva A A 
Published: October 2019

Abstract

Introduction
Restrictive cardiomyopathy (RCMP) is characterized by restrictive filling and reduced diastolic volume of either or both ventricles with normal or near-normal systolic function and wall thickness. It may occur idiopathically or as a cardiac manifestation of systemic diseases and various neuromuscular disorders. Often RCMP occurs with severe symptoms of heart failure and has an poor prognosis. Given the presence of structural myocardial abnormalities, atrial dilatation, this group of patients has a high risk of heart rhythm and conduction disturbances.

Objective
To present our clinical experience in RCMP with the heart rhythm and conduction disturbances in children.

Material and methods
The study was approved by the Institute Ethical Review Board. On behalf of the children enrolled in the study, written informed consent was obtained from the next of kin. The study included 18 children with RCMP presented with heart failure class II-IV. The genotyping was performed to all patients. The identified genetic variants were classified according to ACMG guidelines. We analyzed clinical history, data of physical examination, laboratory findings, ECG, echocardiography, Holter monitoring, genetic test, cardiac MRI and CT performed according to clinical indications and physician's.

Results
Mean age of RCMP manifestation was 2,1 y.o. [0–11] with HF as a main clinical feature. Rhythm and conduction disorders were reported in 83% (n=15) of children. The structure of the disorders included: atriventricular block 1–2 degrees in 22% (n=4), supraventricular disorders (extrasystole, tachycardia, atrial fibrillation) in 44% (n=8), ventricular disorders (extrasystole, tachycardia) in 16% of patients (n=3). One patient had a combined rhythm and conduction disorder (sinus sick syndrome, atrial fibrillation, supraventricular and ventricular tachycardia), which required implantation of a pacemaker with a defibrillator function. In one patient, the manifestation of the disease was with hemodynamically significant permanent-recurrent atrial tachycardia. Mortality in this group of patients was 27% (= 5), the cause of death was the progression of heart failure in 3 children and sudden arrhythmial death in 2 patients.

Conclusions
Thus, RCMP is a severe, genetically caused, with early manifestation progressive disease with high risks of rhythm and conduction disturbances, sudden arrhythmial death. According to the testimony, patients should receive antiarrhythmic therapy and, if necessary, pacemaker implantation is indicated.
P917Transcatheter treatment of severe tricuspid regurgitation: first experiences with the edge-to-edge technique using the MitraClip
Authors: Otto S , Velichkov M , Hamadanchi A , Baez L , Franz M , Schulze P C , Moebius-Winkler S 
Published: October 2019

Abstract

Background
Due to increased operative mortality in high-risk patients treated for severe tricuspid regurgitation (TR), there is a growing interest in interventional therapy in these patients that are otherwise solely treated with medication. The edge-to edge technique with implantation of one or more MitraClips is an therapeutic interventional option for these patients. So far, data for transcatheter TR treatment are sparse.

Purpose
The present cohort study investigates safety, feasibility and effectiveness of the edge-to-edge technique treating severe TR after starting a transcatheter TR treatment program at our institution in 2017.

Methods
A total of 17 high-risk patients (79.18±8.76 years, EUROScore II 9.31±8.23%, table) with symptomatic, severe TR were treated using the MitraClip system from 12/2017 until 12/2018. All patients received pre-interventional clinical, echocardiographic and invasive evaluation and were entered into a database. Safety and feasibility of the procedure, reduction of TR grade and clinical outcomes were collected and analyzed at the day of discharge and at 30-day follow-up.

Results
MitraClip device was successfully implanted in 16 of 17 patients (94.1%). In one patient grasping of the leaflets was impossible due to bad echo conditions by abdominal air. 76.5% of the patients had severe or massive and 23.5% had a torrential TR (figure). A total of 25 Clips were used (22 in anteroseptal, 3 in posteroseptal commissure). No intraprocedural deaths, emergency surgery or major vascular complications occurred. Postprocedural TR was significantly reduced (TR reduction ≥1 grade) from a mean TR grade of 3.8±0.8 at baseline to 1.74±0.59 postprocedural (p<0.001, table and figure). One patient had device detachment before discharge. There was one death due to progressive cardiogenic shock 4 days after the procedure. However, the procedure was planned as a last therapeutic option in this terminally ill patient. Echocardiography at discharge showed reduction of TR in 82,4% of patients (mean TR grade at discharge 2.21±0.66, p<0.001). At 30 day f/u symptoms were significantly improved from inital mean NYHA class of 3.06±0.56 to a mean NYHA class of 2.55±0.52 (p=0.002) and patients presented with reduced TR (mean TR grade at 30 day f/u 2.58±0.57, p<0.001).

Conclusion
Interventional treatment of severe TR in high-risk and mostly inoperable patients using the MitraClip technique is safe and effectivly reduces TR grade leading to clinical improvement. However, further investigations are needed to identify clear parameters highly predictive for a favorable acute and midterm procedural success. Also, more data and clinical trials are needed to determine the long-term course in these patients.
P918Tricuspid regurgitation in patients undergoing transcatheter aortic valve implantation
Authors: Shamekhi J , Stundl A , Al-Kassou B , Weber M , Sedaghat A , Grube E , Nickenig G , Werner N , Sinning J M 
Published: October 2019

Abstract

Background
Transcatheter aortic valve implantation (TAVI) has become the treatment of choice in elderly patients with severe aortic stenosis and increased surgical risk. A significant number of these elderly patients have concomitant tricuspid valve regurgitation. The impact on outcome, however, is still matter of debate.

Objectives
In this prospective observational study, we investigated the impact of concomitant tricuspid regurgitation (TR) on outcome in patients undergoing transcatheter aortic valve implantation.

Methods
Between February 2008 and May 2018, 1411 patients with severe symptomatic aortic stenosis and increased operative risk underwent TAVI at the Heart Center Bonn and participated in this study, after written informed consent was obtained.
Before TAVI procedure, all patients underwent a careful cardiac evaluation and interdisciplinary discussion within the local, institutional Heart Team.
The pre-interventional 3D echocardiography was used to determine the degree of tricuspid valve regurgitation. According to the severity of TR, patients were divided into two groups; patients with TR < II and patients with moderate to severe TR ≥ II andcompared regarding rates of mortality after 1 year of follow-up between the two groups.

Results
Out of 1411 TAVI patients, 802 (56.8%) had tricuspid regurgitation < II, 610 (43.2%) patients suffered from tricuspid regurgitation ≥ II.
The mean age of our study population was 81.1 (±6.5). The baseline characteristics did not differ significantly between the two groups, such as extracardiac arteriopathy (TR < II: 44% vs TR ≥ II: 41.6%; p=0.37), diabetes (TR < II: 27.5% vs TR ≥ II: 27.7%; p=0.92) or arterial hypertension (TR < II: 91% vs TR ≥ II: 93.2%; p=0.64). However, patients with concomitant TR ≥ II had significantly more often NYHA class IV (TR < II: 5.0% vs TR ≥ II: 15.4%; p<0.001) and a higher logistic EuroSCORE (TR < II: 12.9 (8.8/21.2) vs TR ≥ II: 20.6 (13.1/33.4); p<0.001). Additionally, patients with a TR ≥ II had significantly more often a concomitant mitral regurgitation ≥ II (TR < II: 43.3% vs TR ≥ II: 60.4%; p<0.001). Comparing rates of mortality, we found a significant association between the degree of tricuspid regurgitation and 1-year mortality in patients undergoing TAVI (TR < II: 85 (10.6%) vs. TR ≥ II: 136 (22.3%); p<0.001), as presented in Figure 1.
Figure 1

Conclusion
Moderate to severe tricuspid valve regurgitation is associated with higher rates of mortality in patients undergoing transcatheter aortic valve implantation. Our results are hypothesis-generating and it has to be elucidated whether the severity of TR is only a surrogate for more advanced stage of aortic stenosis or whether it is causative so that mortality could be reduced by its treatment.

Acknowledgement/Funding
None
P935Effect of hypertension and systolic blood pressure on cardiovascular and limb outcomes in patients with symptomatic peripheral artery disease: the EUCLID trial
Authors: Hiatt W , Hopley C W , Kavanagh S , Patel M R , Baumgartner I , Berger J S , Blomster J I , Fowkes F G R , Jones W S , Katona B G , Mahaffey K W , Norgren L 
Published: October 2019

Abstract

Background
Hypertension is a risk factor for major adverse cardiac events (MACE) in patients with symptomatic peripheral artery disease (PAD).

Purpose
The effects of a history of hypertension and baseline systolic blood pressure (SBP) on MACE and major adverse limb events (MALE), including acute limb ischemia and major amputation, were evaluated in the Examining Use of tiCagreLor In paD (EUCLID) trial.

Methods
EUCLID randomized 13,885 patients with PAD and found no benefit of ticagrelor compared with clopidogrel on risk of MACE or MALE. The median duration of follow up was approximately 30 months. This post hoc, subgroup analysis evaluated the effects of hypertension history at baseline on the hazard for MACE and MALE. An adjusted restricted cubic spline regression analysis evaluated the association of SBP with MACE and MALE.

Results
A clinical history of hypertension was present in 10,857 (78%) patients at baseline and these patients were more likely to be older, female, white or African American, and reside in North America compared with the 3026 without hypertension. Hypertension was associated with a higher prevalence of concomitant cardiovascular diseases, polyvascular disease, diabetes, and prior coronary interventions. MACE occurred at a rate of 4.63 events/100 pt-yrs in participants with hypertension and 3.64 events/100 pt-yrs in participants without hypertension, (adjusted hazard ratio [aHR] 0.94, 95% CI 0.82–1.08; p=0.38). MALE occurred at a rate of 1.11 events/100 pt-yrs in those with hypertension and 1.38 events/100 pt-yrs in those without hypertension (p=0.054) (aHR 0.93 (95% CI 0.73, 1.18) p=0.55. The adjusted spline model for MACE and SBP demonstrated a significantly non-linear relationship with a HR 1.08 (95% CI 1.01, 1.15), p=0.0275 for every 10-unit decrease <135 mmHg SBP and HR 1.11 (1.06, 1.16), p<0.0001 for every 10-unit increase >135 mmHg (figure). There was no association between baseline SBP and MALE events.

Conclusions
A history of hypertension was not associated with a higher adjusted hazard for MACE or MALE in participants with PAD. In contrast, SBP at baseline was associated with increased risk of MACE at values both above and below 135 mmHg.

Acknowledgement/Funding
EUCLID was sponsored by AstraZeneca
P939Cardiovascular outcomes in patients with Acute Coronary Syndrome and previous cardiovascular disease. An analysis from ACHILLES Registry
Authors: Esteve Pastor M A , Orenes-Pinero E , Ruiz-Nodar J M , Rivera-Caravaca J M , Quintana-Giner M , Veliz-Martinez A , Macias-Villanego M J , Pernias-Escrig V , Vicente-Ibarra N , Carrillo-Aleman L , Candela E , Sandin Rollan M , Lozano T , Tello-Montoliu A , Marin F 
Published: October 2019

Abstract

Background
Patients with acute coronary syndrome (ACS) and previous cardiovascular disease (CVD) [stroke, peripheral arterial disease (PAD) or coronary artery disease (CAD)] are at high risk of serious events and mortality. Current clinical guidelines recommend new antiplatelet drugs (NAD) for high cardiovascular risk patients with ACS; however, these drugs are underused in different scenarios.

Purpose
The aim of this study was to analyze the use of NAD and advese events in patients with ACS an previous CVD.

Methods
ACHILLES registry is and observational, multicenter and prospective registry of ACS patients. 1717 ACS patients were consecutively included in this study from 3 tertiary Hospitals. Of them, 641 (37.33%) suffered from previous CVD: 149 patients with stroke, 154 patients with PAD and 541 patients with CAD. Bleeding, mortality and major adverse cardiac events (MACE) at 1 year of follow-up after hospital discharge were analyzed.

Results
NADs administration during hospital stay and at discharge was less frequent in patients with previous CVDs. Cox analysis in this cohort of patients showed that clopidogrel prescription at discharge was independently associated with MACEs [HR: 1.59 (95% CI 1.03–2.45); p=0.036] and with death [HR: 1.99 (95% CI 1.00–3.98); p=0.049] in multivariate analysis. More specifically, when ticagrelor prescription at discharge was compared with clopidogrel prescription, a significant death reduction was found in both, the univariate and the multivariate Cox analysis [HR: 4.54 (95% CI 2.26–9.13); p<0.001 and HR: 2.61 (95% CI 1.16–5.90); p=0.021, respectively].
KM curves according NAD and CVD disease

Conclusion
New antiplatelet drugs, especially ticagrelor, showed lower rates of mortality in patients with CVD without differences for bleeding. Despite the recommendations of current clinical guidelines for high risk patients with ACS, the use of NADs is very low in “real-life” patients with previous CVD.
P943The impact of diabetes on patients with frail after endovascular treatments: from I-PAD registry
Authors: Nagae A , Nishikawa K , Fujimori K , Katoh T , Miura T , Miyashita Y , Kashiwagi D , Senda K , Sakai T , Saigusa T , Ebisawa S , Motoki H , Okada A , Kuwahara K 
Published: October 2019

Abstract

Background
Diabetes mellitus (DM) is known to be one of the risks of arteriosclerosis. However, it is still unknown whether DM is a risk factor also in secondary prevention of frail patients after endovascular treatments (EVT)

Purpose
To investigate impact of diabetes on patients with frail after EVT.

Methods
From July 2015 to July 2016, 371 consecutive PAD patients who performed EVT were enrolled in I-PAD registry. We could conduct follow up survey 361 patients (446 lesions) and divided into 2 groups; with diabetes (185 patients, 226 lesions) or without diabetes (176 patients, 220 lesions) and analyzed. And among them,we selected 96 patients with frail and divided into 2 groups; with diabetes (49 patients, 70 lesions) or without diabetes (46 patients, 58 lesions) and analyzed. We defined frail patients as the patients with Clinical Frailty Scale 5 (mild frail) or higher. The primary end point was all-cause-death and major adverse limb events (MALE: TLR, TVR, major amputations) at 1 year.

Result
At 1 years in the patients group with diabetes, overall survival and freedom from MALE were significantly lower (81.7% vs 95.8% P<0.0001; 80.0% vs 94.6%, P<0.0001) than the group without diabetes.Among the patients with frail, between the patients group with diabetes and the group without, there is no significant differences in overall survival and freedom from MALE (88.2% vs 88.9% P=0.83; 80.7% vs 84.1%, P=0.55) at 5 years.

Conclusion
The prognosis of patients with diabetes after EVT was worse than the patient without. On the other hand, the prognosis of frail patients with diabetes after EVT was no difference with the frail patient without diabetes in this study.
P968Comparison of re-proximal optimizing technique with kissing balloon technique in provisional stenting during primary percutaneous coronary intervention
Authors: Cetinkal G , Kilickesmez K , Balaban Kocas B , Keskin K , Yildiz S S , Kilci H , Sigirci S , Gurdal A , Er A , Dogan G M 
Published: October 2019

Abstract

Background
Re-proximal optimizing technique (rePOT) (POT, side branch inflation and final POT) is a new provisional coronary bifurcation stenting technique which has better results in bench tests in comparison with kissing balloon inflation (KBI) techique. A clinical study showed that rePOT had beneficial effects in terms of strut malapposition, side branch obstruction and stent geometry. But it has not been compared with KBI technique especially in patients with ST segment elevation myocardial infarction (STEMI) who underwent primary percutaneous coronary intervention (p-PCI).

Purpose
The aim of our study is to compare the new rePOT technique with a known and widely used provisional stenting technique in a real-world special patient population in terms of clinical and technical aspects

Methods
51 patients with STEMI who underwent p-PCI and needed provisional side branch stenting were enrolled in a tertiary center. Patients who needed “two stent strategy” at the beginning of procedure were deferred.

Results
Results were shown in Table 1. In-hospital death, contrast induced acute kidney injury, side branch dissection, need for side branch stenting and acute stent thrombosis were lower in rePOT group but there was no statistically significance.
Table 1 rePOT group (n=23) KBI group (n=28) p value Age 51.6±11.7 51.2±9.4 0.87 Male gender 18 (78.3%) 24 (85.7%) 0.16 Diabetes Mellitus 3 (13%) 6 (21.4%) 0.43 Hypertension 5 (21.7%) 5 (17.9%) 0.73 Ejection fraction 46.8±10.6 44.8±8.4 0.43 Killip class>2 1 (4.3%) 4 (14.3%) 0.47 Stent type (DES) 21 (91.3%) 23 (82.1%) 0.34 Side branch dissection 3 (13%) 8 (28.6) 0.18 Side branch stenting 3 (13%) 6 (21.4%) 0.43 In-hospital death 2 (8.7%) 3 (10.7%) 0.81 CI-AKI 3 (13%) 6 (21.4%) 0.43 Acute stent thrombosis 0 2 (7.1%) 0.19 DES: Drug eluting stent; CI-AKI: contrast induced acute kidney injury.

Conclusion
To the best of our knowledge this is the first study which compares the new rePOT technique with KBI in patients with STEMI who underwent p-PCI and needed provisional coronary bifurcation stenting. Although results are similiar in terms of clinical and technical aspects, rePOT may be a useful and user-friendly technique in such a complex and emergent procedure.

Acknowledgement/Funding
None