Association Between Acute Myocardial Infarction Symptoms and Short- and Long-term Mortality After the Event.

BACKGROUND: In this study, we investigated various acute myocardial infarction (AMI) symptoms and their associations with short-term (28 day) and long-term mortality. METHODS: The analysis was based on 5900 patients, aged 25 to 84 years, with first-time AMI recorded by the population-based Myocardial Infarction Registry Augsburg between 2010 and 2017. Median follow-up time was 3.8 years (interquartile range: 1.1-6.3). As part of a face-to-face interview, the presence (yes/no) of 11 most common AMI symptoms at the acute event was assessed. Using multivariable-adjusted logistic regression and Cox regression models, the association between various symptoms and all-cause mortality was investigated. P values of the regression models were false discovery rate adjusted. RESULTS: Pain in various body parts (chest pain, left and right shoulder/arm/hand, between shoulder blades), sweating, nausea/vomiting, dizziness and fear of death/feeling of annihilation were significantly associated with a decreased 28-day mortality after AMI. The pain symptoms and sweating were also significantly associated with a decreased long-term mortality. Shortness of breath was significantly associated with a higher long-term mortality. CONCLUSIONS: The absence of several symptoms, including typical chest discomfort (chest pain or retrosternal pressure/tightness), is associated with unfavourable outcomes after AMI. This finding has implications for patient management and public health measures designed to encourage appropriate and prompt medical consultation of patients with atypical AMI symptoms.

Virtual non-contrast series of photon-counting detector computed tomography angiography for aortic valve calcium scoring.

The aim of our study was to evaluate two different virtual non-contrast (VNC) algorithms applied to photon counting detector (PCD)-CT data in terms of noise, effectiveness of contrast media subtraction and aortic valve calcium (AVC) scoring compared to reference true non-contrast (TNC)-based results. Consecutive patients underwent TAVR planning examination comprising a TNC scan, followed by a CTA of the heart. VNC series were reconstructed using a conventional (VNCconv) and a calcium-preserving (VNCpc) algorithm. Noise was analyzed by means of the standard deviation of CT-values within the left ventricle. To assess the effectiveness of contrast media removal, heart volumes were segmented and the proportion of their histograms > 130HU was taken. AVC was measured by Agatston and volume score. 41 patients were included. Comparable noise levels to TNC were achieved with all VNC reconstructions. Contrast media was effectively virtually removed (proportions > 130HU from 81% to < 1%). Median calcium scores derived from VNCconv underestimated TNC-based scores (up to 74%). Results with smallest absolute difference to TNC were obtained with VNCpc reconstructions (0.4 mm, Br36, QIR 4), but with persistent significant underestimation (median 29%). Both VNC algorithms showed near-perfect (r²>0.9) correlation with TNC. Thin-slice VNC reconstructions provide equivalent noise levels to standard thick-slice TNC series and effective virtual removal of iodinated contrast. AVC scoring was feasible on both VNC series, showing near-perfect correlation, but with significant underestimation. VNCpc with 0.4 mm slices and Br36 kernel at QIR 4 gave the most comparable results and, with further advances, could be a promising replacement for additional TNC.

Unique 40-year survival after heart transplantation with normal graft function and spontaneous operational tolerance.

Unique 40-year survival after heart transplantation with normal graft function and spontaneous operational tolerance.

Guideline adherence in the use of coronary angiography in patients presenting at the emergency department without myocardial infarction - Results from the German ENLIGHT-KHK project.

Background: For patients with acute myocardial infarction (AMI), direct coronary angiography (CA) is recommended, while for non-AMI patients, the diagnostic work-up depends on clinical criteria. This analysis provides initial prospective German data for the degree of guideline-adherence (GL) in the use of CA on non-AMI patients presenting at the emergency department (ED) with suspected acute coronary syndrome (ACS) according to the 2015 ESC-ACS-GL. Furthermore the implications of the application of the 2020 ESC-ACS-GL recommendations were evaluated. Methods: Patient symptoms were identified using a standardized questionnaire; medical history and diagnostic work-up were acquired from health records. In accordance with the 2015 ESC-ACS-GL, CA was considered GL-adherent if intermediate risk criteria (IRC) were present or non-invasive, image-guided testing (NIGT) was pathological. Results: Between January 2019 and August 2021, 229 patients were recruited across seven centers. Patients presented with chest pain, dyspnea, and other symptoms in 66.7%, 16.2% and 17.1%, respectively, were in mean 66.3 ± 10.5 years old, and 36.3% were female. In accordance with the 2015 ESC-ACS-GL, the use of CA was GL-adherent for 64.0% of the patients. GL-adherent compared to non-adherent use of CA resulted in revascularization more often (44.5% vs. 17.1%, p < 0.001). Applying the 2020 ESC-ACS-GL, 20.4% of CA would remain GL-adherent. Conclusions: In the majority of cases, the use of CA was adherent to the 2015 ESC-ACS-GL. With regard to the 2020 and 2023 ESC-ACS-GL, efforts to expand the utilization of NIGT are crucial, especially as GL-adherent use of CA is more likely to result in revascularization.(German Clinical Trials Register DRKS00015638; https://drks.de/search/de/trial/DRKS00015638; (registration date: 19 February 2019)).

Subannular repair in secondary mitral regurgitation with restricted leaflet motion during systole.

OBJECTIVE: Ventricular secondary mitral regurgitation (SMR) (Carpentier type IIIb) results from left ventricular (LV) remodelling, displacement of papillary muscles and tethering of mitral leaflets. The most appropriate treatment approach remains controversial. We aimed to assess the safety and efficacy of standardised relocation of both papillary muscles (subannular repair) at 1-year follow-up (FU). METHODS: REFORM-MR (Reform-Mitral Regurgitation) is a prospective, multicentre registry that enrolled consecutive patients with ventricular SMR (Carpentier type IIIb) undergoing standardised subannular mitral valve (MV) repair in combination with annuloplasty at five sites in Germany. Here, we report survival, freedom from recurrence of MR >2+, freedom from major adverse cardiac and cerebrovascular events (MACCEs), including cardiovascular death, myocardial infarction, stroke, MV reintervention and echocardiographic parameters of residual leaflet tethering at 1-year FU. RESULTS: A total of 94 patients (69.1% male) with a mean age of 65.1±9.7 years met the inclusion criteria. Advanced LV dysfunction (mean left ventricular ejection fraction 36.4±10.5%) and severe LV dilatation (mean left ventricular end-diastolic diameter 61.0±9.3 mm) resulted in severe mitral leaflet tethering (mean tenting height 10.6±3.0 mm) and an elevated mean EURO Score II of 4.8±4.6 prior to surgery. Subannular repair was successfully performed in all patients, without operative mortality or complications. One-year survival was 95.5%. At 12 months, a durable reduction of mitral leaflet tethering resulted in a low rate (4.2%) of recurrent MR >2+. In addition to a significant improvement in New York Heart Association (NYHA) class (22.4% patients in NYHA III/IV vs 64.5% patients at baseline, p<0.001), freedom from MACCE was observed in 91.1% of patients. CONCLUSIONS: Our study demonstrates the safety and feasibility of standardised subannular repair to treat ventricular SMR (Carpentier type IIIb) in a multicentre setting. By addressing mitral leaflet tethering, papillary muscle relocation results in very satisfactory 1-year outcomes and has the potential to durably restore MV geometry; nevertheless, long-term FU is mandatory. TRIAL REGISTRATION NUMBER: NCT03470155.

Long-Term Predictors of Hospitalized Reinfarction after an Incident Acute Myocardial Infarction.

The aim of this study was to compare characteristics of incident acute myocardial infarction (AMI) and first and second time reinfarctions in terms of sociodemographic characteristics, comorbidities, symptoms, treatment, clinical characteristics, medication and outcome. A further aim was to identify predictors for an increased risk of hospitalized reinfarction. Between 2000 and 2017, a total of 13,276 AMI cases were recorded by a population-based registry in the area of Augsburg, Germany, and were included in this study (11,871 incident events, 1217 cases of first-time reinfarction and 202 cases of second-time reinfarction). Median follow-up time was 5.3 years. For differences in baseline characteristics, Chi-square tests and analysis of variance (ANOVA) were calculated. To determine factors that are associated with an increased risk of hospitalized reinfarction COX regression models were fitted. Myocardial reinfarctions differ from incident events in some major characteristics such as the frequency of comorbidities, laboratory values, ECG presentation and therapy, but not regarding 28-day mortality. Moreover, typical comorbidities and risk factors (diabetes, hypertension, hyperlipidemia, smoking, impaired renal function) are associated with an increased risk of hospitalized reinfarction. Conversely, STEMI ECG, being married, German nationality and bypass surgery are predictors for a lower risk of hospitalized reinfarction. Incident AMI and reinfarction are distinctly different in many characteristics, which physicians should have in mind when treating patients with prior AMI. Typical comorbidities are risk factors for hospitalized reinfarction. This underlines the importance of comprehensive treatment of these comorbidities including education of patients and encouragement towards lifestyle adjustments.

Undiagnosed Impaired Glucose Tolerance and Type-2 Diabetes in Acute Myocardial Infarction Patients: Fequency, Characteristics and Long-Term Mortality.

Background: In this study we investigated the prevalence of undiagnosed impaired glucose tolerance and type-2-diabetes (T2D) among patients with acute myocardial infarction (AMI) and prospectively analyzed whether these patients have a higher long-term mortality. Methods: The analysis was based on 2,317 AMI patients aged 25-84 years from the population-based Myocardial Infarction Registry Augsburg, recruited between 2009 and 2014 and followed-up until 2019 (median follow-up time 6.5 years [IQR: 4.9-8.1]). AMI patients with a diagnosis of diabetes were divided into a high (>7.0%) and a low HbA1c group (≤7.0%) according to HbA1c values at admission. The remaining patients (without known diabetes) were grouped into normal (<5.7%), elevated (5.7-6.4%), and high (≥6.5%) HbA1c groups. In a multivariable-adjusted COX regression analysis, the association between HbA1c groups and long-term mortality was investigated. Linear regression models were used to identify AMI patients with elevated HbA1c values by means of personal characteristics. Results: At admission, 29.5% of all patients reported a diagnosis of diabetes. Of all patients without known diabetes, 5.4% had HbA1c values of ≥ 6.5 and 37.9% had HbA1c values between 5.7 and 6.4%. The fully adjusted Cox regression model showed a non-significant trend toward higher long-term mortality for AMI patients with increased HbA1c values (HbA1c 5.7-6.4% HR: 1.05 [0.79-1.38], HbA1c > 6.5% HR: 1.34 [0.77-2.31]). A linear regression model including the variables admission serum glucose, BMI, age, sex and type of infarction (STEMI, NSTEMI) showed only poor prediction of HbA1c values (R 2: 11.08%). Conclusion: A fairly high number of AMI patients without known diabetes have elevated HbA1c values. Though we could not prove a higher risk of premature mortality in these patients, early detection and adequate therapy might lead to reduced diabetes-associated complications and improve long-term outcomes.

Shock index and modified shock index are predictors of long-term mortality not only in STEMI but also in NSTEMI patients.

BACKGROUND: Shock index (SI) and modified shock index (mSI) are useful instruments for early risk stratification in acute myocardial infarction (AMI) patients. They are strong predictors for short-term mortality. Nevertheless, the association between SI or mSI and long-term mortality in AMI patients has not yet been sufficiently examined. MATERIAL AND METHODS: For this study, a total of 10,174 patients with AMI was included. All cases were prospectively recorded by the population-based Augsburg Myocardial Infarction Registry from 2000 until 2017. Endpoint was all-cause mortality with a median observational time of 6.5 years [IQR: 3.5-7.4]. Using ROC analysis and calculating Youden-Index, the sample was dichotomized into a low and a high SI and mSI group, respectively. Moreover, multivariable adjusted COX regression models were calculated. All analyses were performed for the total sample as well as for STEMI and NSTEMI cases separately. RESULTS: Optimal cut-off values were 0.580 for SI and 0.852 for mSI (total sample). AUC values were 0.6382 (95% CI: 0.6223-0.6549) for SI and 0.6552 (95% CI: 0.6397-0.6713) for mSI. Fully adjusted COX regression models revealed significantly higher long-term mortality for patients with high SI and high mSI compared to patients with low indices (high SI HR: 1.42 [1.32-1.52], high mSI HR: 1.46 [1.36-1.57]). Furthermore, the predictive ability was slightly better for mSI compared to SI and more reliable in NSTEMI cases compared to STEMI cases (for SI and mSI). CONCLUSION: High SI and mSI are useful tools for early risk stratification including long-term outcome especially in NSTEMI cases, which can help physicians to make decision on therapy. NSTEMI patients with high SI and mSI might especially benefit from immediate invasive therapy.Key messagesShock index and modified shock index are predictors of long-term mortality after acute myocardial infarction.Both indices predict long-term mortality not only for STEMI cases, but even more so for NSTEMI cases.

Contemporary results of transcatheter mitral valve procedures: bi-centric retrospective analysis.

BACKGROUND: Transcatheter mitral valve-in-valve (TMVIV) or valve-in-ring (TMVIR) replacement offer an alternative therapy for high risk patients. We aimed to highlight the operative and postoperative results of TMVIV and TMVIR procedures. RESULTS: We included all patients underwent TMVIV and TMVIR procedures between 2017 and 2020 at two heart centers in Germany. We included a total of 36 high risk patients in our study where 12 received TMVIV and 24 received TMVIR. All patients underwent TMVIV or TMVIR with Edwards Sapien XT or S3 transcatheter valves (Edwards Lifesciences). The mean age was 79 (75-83 years old). The median (IQR) preoperative STS score was 9 (7-13)% and EuroSCORE II was 14.5% (12-16). The majority of our patients were operated via transapical approach (n = 26) and the minority via transseptal approach (n = 10). Out of our records, none of our patients required reopening for bleeding or any other surgical complications. None of our patients required reintervention during the 6 months follow-up period. One mortality was recorded on fifth postoperative day due to low cardiac output syndrome (obviously because of LVOT obstruction by the anterior mitral leaflet). The average blood loss was 200 ml in the first 24 h in patients underwent transapical approach. Average operative time was 93 min and all patients were immediately extubated after the procedure in the operating room (even the patient with echocardiographically documented LVOT obstruction who died on the fifth postoperative day). Length of Intensive Care Unit stay was 2 ± 1.2 days and length of hospital stay was 4.1 ± 1.2 days. In the follow up period, echocardiograms showed normal prosthetic valve function with low transvalvular gradients, no LVOT obstruction in TMVIR cases and no evidence of valve migration or thrombosis (except in one patient). Concerning 6 months readmission, it was recorded in 2 patients due to right sided heart failure symptoms due to preexisting high degree of tricuspid valve regurge which did not disappear or even decrease after the operation and the other patient due to gastrointestinal bleeding. CONCLUSIONS: TMVIV and TMVIR offer an efficient, safe and less invasive alternative in high surgical risk patients.

A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA Children.

CONTEXT: IGF1 receptor mutations (IGF1RM) are rare; however, patients exhibit pronounced growth retardation without catch-up. Although several case reports exist, a comprehensive statistical analysis investigating growth profile and benefit of recombinant human growth hormone (rhGH) treatment is still missing. OBJECTIVE AND METHODS: Here, we compared IGF1RM carriers (n = 23) retrospectively regarding birth parameters, growth response to rhGH therapy, near final height, and glucose/insulin homeostasis to treated children born small for gestational age (SGA) (n = 34). Additionally, health profiles of adult IGF1RM carriers were surveyed by a questionnaire. RESULTS: IGF1RM carriers were significantly smaller at rhGH initiation and had a diminished first-year response compared to SGA children (Δ height standard deviation score: 0.29 vs. 0.65), resulting in a lower growth response under therapy. Interestingly, the number of poor therapy responders was three times higher for IGF1RM carriers than for SGA patients (53 % vs. 17 %). However, most IGF1RM good responders showed catch-up growth to the levels of SGA patients. Moreover, we observed no differences in homeostasis model assessment of insulin resistance before treatment, but during treatment insulin resistance was significantly increased in IGF1RM carriers compared to SGA children. Analyses in adult mutation carriers indicated no increased occurrence of comorbidities later in life compared to SGA controls. CONCLUSION: In summary, IGF1RM carriers showed a more pronounced growth retardation and lower response to rhGH therapy compared to non-mutation carriers, with high individual variability. Therefore, a critical reevaluation of success should be performed periodically. In adulthood, we could not observe a significant influence of IGF1RM on metabolism and health of carriers.

Standardized Subannular Repair Improves Outcomes in Type IIIb Functional Mitral Regurgitation.

BACKGROUND: The major drawback of isolated annuloplasty in secondary mitral regurgitation (MR) is the reoccurrence of MR. We prospectively compared the results of isolated annuloplasty vs annuloplasty with simultaneous standardized subannular repair. METHODS: The study comprised 101 patients with secondary type IIIb MR. Of these, 51 underwent annuloplasty plus standardized subannular repair with realignment of both papillary muscles (subannular repair) and 50 underwent isolated annuloplasty. The primary study end point was the reoccurrence of MR >2 at the 1-year follow-up. Secondary end points were survival, freedom from major adverse cardiac events, and residual leaflet tethering. RESULTS: Baseline characteristics were comparable in both groups. There was no significant difference in in-hospital mortality (P = .3). Although postrepair MR was comparable between the subannular repair and isolated annuloplasty subgroups, the residual leaflet tethering (tenting area, 127.6 ± 35.8 mm2 vs 166.3 ± 47.3 mm2, P = .02; posterior mitral leaflet angle, 19.2 ± 4.7 degrees vs 24.8 ± 5.2 degrees, P = .001; anterior mitral leaflet angle, 25.4 ± 5.8 degrees vs 34.1 ± 4.0 degrees, P = .001; and tenting height, 5.9 ± 1.4 mm vs 9.2 ± 2.2 mm, P = .001) were significantly increased in the isolated annuloplasty group (P < .001). At the 1-year follow-up, we found a significant difference between the groups in the freedom from MR >2 of 98% (50 of 51) for subannular repair vs 86.7% (39 of 45) for isolated annuloplasty (P = .045) and mortality of 0% (0 of 51) for subannular repair vs 10% (5 of 50) for isolated annuloplasty (P = .025). CONCLUSIONS: In secondary MR with reduced leaflet motion, the combination of annuloplasty and standardized subannular repair is associated with a significantly reduced MR reoccurrence, decreased residual leaflet tenting, and significantly improved 1-year outcome compared with annuloplasty alone.

Minimally invasive mitral valve repair for functional mitral regurgitation.

Systolic heart failure is frequently accompanied by a relevant functional mitral valve regurgitation (FMR) which develops as a direct sequela of the ongoing left ventricular remodelling. The severity of mitral regurgitation is further aggravated by progressive left ventricular enlargement causing leaflet tethering and reduced systolic leaflet movement. The prognosis of such patients is obviously limited by an underlying left ventricular disease, and the correction of secondary FMR has been previously suggested as predominantly 'cosmetic' surgery in the setting of ongoing cardiomyopathy. Inferior results of an isolated annuloplasty in type IIIb FMR supported the philosophy of malignant course of progressive cardiomyopathy and resulted in increasingly restricted indications for mitral valve surgery for FMR in the guidelines. The lack of a standardized pathophysiological approach to correct type IIIb FMR led to the development of valve replacement strategy and edge-to-edge catheter-based mitral valve procedures, which became the most frequent procedures in the FMR setting in Europe. Modern mitral valve surgery combines the advantages of 3-dimensional endoscopic minimally invasive surgical approach with standardized subannular repair to address the pathophysiological background of type IIIb FMR. The perioperative results have been significantly improved, and there is a growing evidence of improved long-term stability of subannular repair procedures as compared to isolated annuloplasty. This review article aims to present the current state-of-the-art of the modern mitral valve surgery in FMR and provides suggestions for future trials analysing the potential advantages in these patients.

Standardized subannular repair for type IIIb functional mitral regurgitation in a minimally invasive mitral valve surgery setting†.

OBJECTIVES: Subannular repair techniques in addition to undersized ring annuloplasty have been developed to address high mitral regurgitation (MR) recurrence rates after mitral valve repair in type IIIb MR. We compared the results of annuloplasty with simultaneous standardized subannular repair versus isolated annuloplasty, focusing on the periprocedural outcomes of minimally invasive procedures. METHODS: A consecutive series of 108 patients with type IIIb functional MR with severe signs of bileaflet tethering underwent an annuloplasty + subannular repair (group A; n = 60) versus isolated annuloplasty (group B; n = 48). The primary end point of this prospective, parallel cohort study was death or recurrent MR >2, 1 year postoperatively. The secondary end points were survival and clinical outcomes, with special regard for the minimally invasively treated subgroups. RESULTS: Duration of surgery, cardiopulmonary bypass time and aortic cross-clamp time were comparable between both study groups. Procedural outcomes as well as echocardiographic outcome parameters were similar and independent of access (fully endoscopic versus full sternotomy). At the 12-month follow-up, death or MR >2 occurred in 3.3% (2/60) of patients in group A vs in 20.8% (10/48) of patients in group B (P = 0.037). The overall mortality rate during the follow-up period was 1.7% (1/60) in group A vs 12.5% (6/48) in group B (P = 0.041). CONCLUSIONS: Standardized realignment of papillary muscles is feasible and reproducible via a minimally invasive approach, resulting in excellent periprocedural outcomes, and has a clear potential to significantly decrease MR recurrence and improve 1-year outcomes compared to isolated annuloplasty.

Subannular reconstruction in secondary mitral regurgitation: a meta-analysis.

OBJECTIVE: Mitral valve repair using an undersized complete annuloplasty ring in secondary mitral regurgitation with restricted leaflet motion during systole (Carpentier's surgical classification of mitral valve pathology: type IIIb) only inadequately addresses the underlying left ventricular disease. This may lead to an ongoing ventricular remodelling and progressive papillary muscle displacement with increasing leaflet tethering. Several subannular techniques have been proposed to counteract the reoccurrence of mitral regurgitation after mitral valve repair. We aimed to evaluate the potential additive effect of such subannular techniques on the late reoccurrence rate of secondary mitral regurgitation. METHODS: Systematic literature review and meta-analysis were performed on PubMed, Embase and Google Scholar for studies published up to March 2016 and reporting late reoccurrence of mitral regurgitation after mitral valve repair using standard annuloplasty (control group) versus annuloplasty with subannular correction (study group) cohorts. Primary endpoint was late reoccurrence of mitral regurgitation ≥2 after surgical mitral valve repair, as defined by follow-up echocardiography. RESULTS: The cumulative number of 1093 patients in 12 included studies served as our study population. A total of 743 patients underwent combined mitral valve repair including annuloplasty and subannular manoeuvre (ie, study group), while the remaining 350 patients underwent an isolated ring annuloplasty (ie, control group). Secondary mitral regurgitation was caused by ischaemic heart disease in 733/743 patients in the study group and 334/350 patients in the control group. Mean echocardiographic follow-up was 42.7±13.9 months. Pooled outcome analysis demonstrated that the combination of subannular repair with ring annuloplasty was associated with a significantly lower reoccurrence rate of mitral regurgitation ≥2 as compared with annuloplasty alone (OR 0.27, 95% CI 0.19 to 0.38, P=0.0001). CONCLUSION: The combination of subannular reconstruction and mitral valve annuloplasty is associated with a lower late reoccurrence of mitral regurgitation after surgical mitral valve repair, as compared with annuloplasty alone.

Minimally Invasive Mitral Valve Annuloplasty With Realignment of Both Papillary Muscles for Correction of Type IIIb Functional Mitral Regurgitation.

OBJECTIVE: Pathophysiological background of type IIIb functional mitral regurgitation (FMR) is a progressively increasing distance between papillary muscle tips and mitral annular plane. Standard surgical treatment of such FMR by means of undersized mitral annuloplasty is associated with a high recurrence rate. METHODS: We propose a modified subannular maneuver to correct type IIIb FMR while combining undersized annuloplasty with a controlled realignment of both papillary muscles, thereby fixing the distance between mitral annular plane and papillary muscle tips. The differences of this subannular maneuver as compared with the previously published techniques are the following: (1) controlled realignment of both papillary muscles, (2) fixation of the papillary muscles to mitral annulus distance on an annuloplasty ring, and (3) application in a three-dimensional endoscopic minithoracotomy setting. RESULTS: We describe a surgical technique of minimally invasive mitral valve repair performed due to severe type IIIb FMR, which includes a modified subannular maneuver to realign both papillary muscles. Preliminary results of the first 10 patients who underwent this procedure at our institution are presented. There was no in-hospital mortality and follow-up echocardiography (mean ± SD echocardiographic follow-up = 10 ± 6 months) demonstrated stable functional results. CONCLUSIONS: Our initial experience indicates that adding of this subannular maneuver to the standard annuloplasty and thereby fixing the distance between papillary muscles and mitral annular plane have a potential to improve results of surgical FMR treatment.

First-in-human implantation of a novel transfemoral selfexpanding transcatheter heart valve to treat pure aortic regurgitation.

Here we will describe the first case of a novel JenaValve design (JenaValve Technology, Irvine, CA, USA) using the transfemoral approach in a 78-year-old female patient with pure aortic regurgitation. The implantation was successfully performed with good haemodynamics and good clinical outcome at six-month follow- up. The technology is especially appealing in non-calcified anatomies due to the clipping mechanism which was previously utilised in the transapical design.

Structural Valve Deterioration of a Subcoronary Implanted Stentless Bioprosthesis: How to Treat?

We present a case of transcatheter valve-in-valve replacement performed because of structural valve deterioration of a subcoronary implanted stentless aortic bioprosthesis. A 23-mm self-expandable transcatheter heart valve (THV) with supraannular seating was chosen. The procedure was performed with the patient under conscious sedation. After anchoring and partial valve deployment, the patient experienced an acute onset of angina. The angiogram showed left main coronary artery obstruction. Prompt resheathing and retrieval of the THV was performed, and the procedure was aborted. Subsequently, an open-heart redo operation was performed by the use of a sutureless aortic bioprosthesis, with satisfactory hemodynamic and clinical results.

First experience with transfemoral transcatheter aortic valve implantation without prior balloon pre-dilatation using a latest generation repositionable and retrievable transcatheter heart valve†.

OBJECTIVES: : The aim of this study was to prove technical feasibility and document haemodynamic and clinical outcomes of transcatheter aortic valve implantation (TAVI) with the latest generation repositionable and retrievable Lotus™ transcatheter heart valve (THV) without prior balloon-aortic valvuloplasty (BAV). It has been demonstrated for self-expandable and balloon-expandable THV that implantation without prior BAV is not only feasible and safe but also results in lower fluoroscopy times and amounts of contrast agent while yielding non-inferior haemodynamic and clinical outcome. To date no reports exist for TAVI without BAV for the Lotus™ THV. METHODS: : A consecutive patient series received direct transfemoral (TF)-TAVI without prior BAV using the Lotus™ valve system. Baseline, intraprocedural and acute follow-up data up to 30 days were retrospectively collected. Clinical endpoints were adjudicated in accordance with the updated standardized Valve Academic Research Consortium (VARC)-2 definitions. RESULTS: : A total of 9 patients received direct TF-TAVI using the Lotus THV (77.7% female, 82.5 ± 5.3 years, logistic European System for Cardiac Operative Risk Evaluation I 14.2 ± 13.7%). Device success according to VARC-2 definitions was achieved in 100% (9/9) of the patients. Peak and mean transvalvular gradients as determined by transthoracic echocardiography prior to discharge decreased from 51.5 ± 17.3 to 24.4 ± 10.4 mmHg and 29.5 ± 9.6 to 13.2 ± 5.2 mmHg (both P < 0.01). Effective orifice area increased from 0.9 ± 0.2 to 1.9 ± 0.3 cm 2 ( P < 0.01). No paravalvular leakage (PVL) ≥ moderate was detected. All-cause 30-day mortality was 11.1% (1/9), with one death due to ischaemic enteritis. CONCLUSIONS: : In our series, TF-TAVI without prior BAV using this particular THV technical feasibility, no increased incidence of significant paravalvular leakage, and good haemodynamic and clinical outcome in selected patients. These results will have to be confirmed in larger patient numbers for further clinical evaluation and before general recommendations regarding patient selection can be made.

Alu-mediated recombination defect in IGF1R: haploinsufficiency in a patient with short stature.

BACKGROUND: The insulin-like growth factor (IGF) receptor (IGF1R) is essential for normal development and growth. IGF1R mutations cause IGF-1 resistance resulting in intrauterine and postnatal growth failure. The phenotypic spectrum related to IGF1R mutations remains to be fully understood. METHODS: Auxological and endocrinological data of a patient identified previously were assessed. The patient's fibroblasts were studied to characterize the IGF1R deletion, mRNA fate, protein expression and signalling capabilities. RESULTS: The boy, who carries a heterozygous IGF1R exon 6 deletion caused by Alu element-mediated recombination and a heterozygous SHOX variant (p.Met240Ile), was born appropriate for gestational age but developed proportionate short stature postnatally. IGF-1 levels were low-normal. None of the stigmata associated with SHOX deficiency or sporadically observed in IGF1R mutation carriers were present. Nonsense-mediated mRNA decay led to a substantial decline of IGF1R dosage and IGF-1-dependent receptor autophosphorylation but not impaired downstream signalling. CONCLUSION: We present the first detailed report of an intragenic IGF1R deletion identified in a patient who, apart from short stature, deviates from all established markers that qualify a growth-retarded child for IGF1R analysis. Although such children will usually escape routine clinical mutation screenings, they can contribute to the understanding of factors and mechanisms that cooperate with the IGF1R.