Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 26
Filter
1.
Int J Cardiol Heart Vasc ; 49: 101312, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38076344

ABSTRACT

Objectives: Data on anesthetic proceedings during cardiac implantable electronic device (CIED) implant procedures are scarce and it remains unclear whether anesthetic care is still required in selected patients. Methods: In this retrospective, single center study we assessed the prevalence of intraoperative anesthetic management comprising anesthetic standby, sedation or general anesthesia as well as anesthetic and procedural complications. We analyzed pre-existing and perioperative risk factors related to procedure-related adverse outcome such as perioperative cardiopulmonary resuscitation (CPR) and 30-day mortality in a uni- and multivariable analysis. Results: In total, PM and ICD insertion were performed in up to 85% and 58% under anesthetic standby, with an increasing tendency over time.Overall, Cardiopulmonary resuscitation (CPR) was required in 59 patients. Acute heart failure (AHF) was the only independent pre-existing risk factor for CPR and for 30-day mortality. Sedation and general anesthesia had a significantly increased odds ratio for CPR compared to anesthetic standby. The risk for CPR significantly decreased during the study period. Conclusions: Over the years anesthetic practice during CIED implant procedures shifted from mixed anesthetic proceedings to mainly standby duties. The prevalence of complications and emergency measures is low, however not uncommon. Accordingly, the presence of an anesthesiologist should be further guaranteed when sedatives were titrated and in AHF patients. However, in patients receiving local anesthetic infiltration only, it seems safe to perform CIED implant procedures without anesthetic standby.

2.
Eur Heart J Case Rep ; 5(5): ytab126, 2021 May.
Article in English | MEDLINE | ID: mdl-34124559

ABSTRACT

BACKGROUND: Twiddler's syndrome is a rare complication after implantation of cardiac pacemakers or cardioverter-defibrillators that usually occurs within the first year after the procedure. However, it has not yet been described following implantation of baroreflex activation therapy (BAT). CASE SUMMARY: A 61-year-old female patient was referred to the cardiology outpatient clinic due to uncontrolled arterial hypertension despite maximal doses of several established drugs. Therefore, right-sided BAT implantation was successfully performed in February 2017 with good clinical response. Because of sustained neck pain at the site of stimulator, surgical revision was performed in November 2019 including a switch of the lead to the contralateral position. Approximately 1 month later, Twiddler's syndrome was identified on the basis of recurrent pain at the generator site necessitating pocket-revision, however, the lead was only untwisted but not replaced. A few weeks afterwards, unfortunately, lead revision was indispensable due to lead fracture. DISCUSSION: This case presents the uncommon phenomenon of Twiddler's syndrome after BAT implantation. In addition, the commonly twisted lead should always be replaced as well during surgical pocket-revision in order to ensure proper long-term function.

3.
Clin Res Cardiol ; 110(6): 884-894, 2021 Jun.
Article in English | MEDLINE | ID: mdl-33566185

ABSTRACT

BACKGROUND: Transcatheter tricuspid valve intervention became an option for pacemaker lead-associated tricuspid regurgitation. This study investigated the progression of tricuspid regurgitation (TR) in patients with or without pre-existing right ventricular dilatation (RVD) undergoing pacemaker implantation. METHODS: Patients were included if they had implantation of transtricuspid pacemaker lead and completed echocardiography before and after implantation. The cohort was divided in patients with and without RVD (cut-off basal RV diameter ≥ 42 mm). TR was graded in none/mild, moderate, and severe. Worsening of one grade was defined as progression. Survival analyses were plotted for 10 years. RESULTS: In total, 990 patients were analyzed (24.5% with RVD). Progression of TR occurred in 46.1% of patients with RVD and in 25.6% of patients without RVD (P < 0.001). Predictors for TR progression were RV dilatation (OR 2.04; 95% CI 1.27-3.29; P = 0.003), pre-existing TR (OR 4.30; 95% CI 2.51-7.38; P < 0.001), female sex (OR 1.68; 95% CI 1.16-2.43; P = 0.006), single RV lead (OR 1.67; 95% CI 1.09-2.56; P = 0.018), mitral regurgitation (OR 2.08; 95% CI 1.42-3.05; P < 0.001), and enlarged left atrium (OR 1.98; 95% CI 1.07-3.67; P = 0.03). Survival-predictors were pacemaker lead-associated TR (HR 1.38; 95% CI 1.04-1.84; P = 0.028), mitral regurgitation (HR 1.34; 95% CI 1.02-1.77; P = 0.034), heart failure (HR 1.75; 95% CI 1.31-2.33; P < 0.001), kidney disease (HR 1.62; 95% CI 1.25-2.11; P < 0.001), and age ≥ 80 years (HR 2.84; 95% CI 2.17-3.71; P < 0.001). CONCLUSIONS: Patients with RVD receiving pacemaker suffered from increased TR progression, leading to decreased survival.


Subject(s)
Cardiomyopathy, Dilated/therapy , Pacemaker, Artificial/adverse effects , Tricuspid Valve Insufficiency/etiology , Tricuspid Valve/diagnostic imaging , Ventricular Dysfunction, Right/therapy , Aged , Cardiomyopathy, Dilated/physiopathology , Echocardiography , Equipment Failure , Female , Follow-Up Studies , Humans , Male , Prognosis , Retrospective Studies , Tricuspid Valve Insufficiency/diagnosis , Ventricular Dysfunction, Right/diagnosis , Ventricular Dysfunction, Right/physiopathology
4.
Front Cardiovasc Med ; 7: 569060, 2020.
Article in English | MEDLINE | ID: mdl-33195457

ABSTRACT

Introduction: Evidence of sex-related differences in patients with pacemakers regarding comorbidities is insufficiently investigated. The aim of this study was to determine the relationship of cardiovascular comorbidities and sex category with properties of pacemaker implantation, pacemaker follow-up, and long-term survival. Methods: This retrospective, single-center cohort study consisted of 6,362 pacemaker-patients (39.7% female) enrolled between May 2000 and April 2015. Functional pacemaker parameters were registered at regular pacemaker controls. Survival status and cause of death were analyzed in relation to comorbidities, implanted pacing devices, and echocardiography. Survival analyses were plotted for a 10-year follow-up. Results: Patients with hypertension or hyperlipidemia had higher rates of implantations due to sick sinus syndrome (28.6 vs. 25.5% without hypertension, P < 0.001; 30.7 vs. 25.7% without hyperlipidemia, P < 0.001), while endocarditis was associated with higher rates of implantations due to AV block (46.7 vs. 33.4%, P < 0.001). Patients with valvular heart disease had higher rates of pacemaker implantation due to bradycardic atrial fibrillation (24.9 vs. 21.0% without valvular heart disease, P < 0.001). Ventricular pacing threshold increased in both sexes during the follow-up and was higher in women in the final follow-up (0.94 vs. 0.91 V in men, P = 0.002). During the 10-years follow-up, 6.1% of women and 8.6% of men underwent lead replacement (P = 0.054). Device and lead replacement rates were increased if the comorbidities coronary artery disease, heart failure, hypertension, hyperlipidemia, valvular heart disease, previous stroke/TIA, atrial arrhythmias, chronic kidney disease, or endocarditis were present. Diabetes and previous CABG increase the rates of device replacement, but not the rate of lead replacement. Severe tricuspid regurgitation after implantation of pacemaker was present in more men than women (14.4 vs. 6.1%, P < 0.001). In a multivariate COX regression, the following variables were associated with independent decrease of 10-year survival: hypertension (HR 1.34, 95% CI 1.09-1.64), chronic kidney disease (HR 1.83, 95% CI 1.53-2.19), tricuspid regurgitation after pacemaker implantation (HR 1.48, 95% CI 1.26-1.74). Survival was independently increased in female sex (HR 0.83, 95% CI 0.70-0.99) and hyperlipidemia (HR 0.81, 95% CI 0.67-0.97). Conclusions: Cardiovascular comorbidities influenced significantly pacemaker implantations and long-term outcome. Trial Registration: ClinicalTrials.gov Unique identifier: NCT03388281.

5.
Clin Cardiol ; 43(10): 1084-1092, 2020 Oct.
Article in English | MEDLINE | ID: mdl-32794309

ABSTRACT

Within the last decade, implantable cardioverter-defibrillator (ICD) systems with non-transvenous leads were developed in order to minimize complications related to the cardiovascular position of transvenous ICD leads. This national expert consensus gives an overview of potential indications for the implantation of non-transvenous ICD systems, and provides specific recommendations for implantation, follow-up, and complication management in patients with subcutaneous ICD. Regarding particular issues like the necessity for shock efficacy testing, or the clinical outcome as compared to transvenous ICD, randomized data are expected in the near future.


Subject(s)
Consensus , Death, Sudden, Cardiac/prevention & control , Defibrillators, Implantable , Humans
6.
Clin Cardiol ; 42(10): 914-918, 2019 Oct.
Article in English | MEDLINE | ID: mdl-31282021

ABSTRACT

BACKGROUND: Electromagnetic interference between left ventricular assist devices (LVAD) and the telemetry wand of implantable cardioverter-defibrillators (ICD) with impairment of ICD interrogation has previously been described in HVAD and HeartMate II devices. This is the first study showing the potential influence of the LVAD model HeartMate 3 (with the unique feature of fully magnetically levitated rotor with consistent wide blood-flow gaps) on functional interrogation of different ICD models. METHODS AND RESULTS: Among 51 patients treated with a HeartMate 3 LVAD, 34 patients (66.7%) already had an ICD implanted prior to LVAD therapy. In this cohort, impairment of ICD interrogation was observed in five patients (14.7%) with five different device models. In patients with Biotronik ICD, stretching of the ipsilateral arm to increase the distance between both devices >10 cm was sufficient in one patients, whereas surgical contralateral repositioning was necessary in two patients; in one further patient no action could be taken, as he died early from embolic stroke. In the only patient with a MicroPort ICD, this issue was resolved by using a wireless telemetry. The distances between both devices showed no statistical significant correlation with an impaired interrogation, neither in the overall collective nor within the groups with the same manufacturer. CONCLUSIONS: In patients with impaired ICD interrogation caused by electromagnetic interference between a HeartMate 3 LVAD and the ICD, the actions mentioned above have to be taken, to resolve this technical issue. Especially, a sufficient distance of at least 10 cm between both devices was crucial for avoiding this problem.


Subject(s)
Defibrillators, Implantable , Heart Failure/therapy , Heart Ventricles/physiopathology , Heart-Assist Devices , Magnets , Telemetry/methods , Ventricular Function, Left/physiology , Equipment Design , Female , Follow-Up Studies , Heart Failure/physiopathology , Humans , Male , Middle Aged , Retrospective Studies
7.
Cardiol J ; 26(5): 543-549, 2019.
Article in English | MEDLINE | ID: mdl-29718532

ABSTRACT

BACKGROUND: The aim of the study was to evaluate subcutaneous implantable cardioverter-defibrillator (S-ICD) patients with regard to underlying etiology, peri-procedural outcome, appropriate/inappropriate shocks, and complications during follow-up. METHODS: All patients who underwent S-ICD implantation from February 2013 to March 2017 at an academic hospital in Vienna were included. Medical records were examined and follow-up interrogations of devices were conducted. RESULTS: A total of 79 S-ICD patients (58.2% males) with a mean age of 44.5 ± 17.2 years were followed for a mean duration of 12.8 ± 13.7 months. A majority of patients (58.2%) had S-ICD for primary prevention of sudden cardiac death. The most common of the 16 underlying etiologies were ischemic cardiomyopathy, non-ischemic cardiomyopathy, and idiopathic ventricular fibrillation. The lead was implanted to the left sternal border in 96.2% of cases, between muscular layers in 72.2%. Mean implant time was 45 min, 3 patients were induced, and all patients except one were programmed to two zones. Six (7.6%) patients experienced at least one appropriate therapy for ventricular arrhythmias and the time to first event ranged from 1 to 52 months. Seven patients experienced inappropriate shocks due to T-wave oversensing, atrial tachycardia with rapid atrioventricular conduction, external electromagnetic interference, and/or baseline oversensing due to lead movement. Four patients underwent revision for lead repositioning (n = 1), loose device suture (n = 1), and infection (n = 2). CONCLUSIONS: While S-ICDs are a feasible and effective treatment, issues remain with inappropriate shock and infection.


Subject(s)
Arrhythmias, Cardiac/therapy , Death, Sudden, Cardiac/prevention & control , Defibrillators, Implantable , Electric Countershock/instrumentation , Primary Prevention , Adolescent , Adult , Aged , Arrhythmias, Cardiac/complications , Arrhythmias, Cardiac/mortality , Austria , Death, Sudden, Cardiac/etiology , Defibrillators, Implantable/adverse effects , Electric Countershock/adverse effects , Female , Humans , Male , Middle Aged , Prosthesis Design , Prosthesis Failure , Prosthesis-Related Infections/etiology , Prosthesis-Related Infections/surgery , Reoperation , Risk Factors , Tertiary Care Centers , Treatment Outcome
8.
ESC Heart Fail ; 5(6): 1176-1183, 2018 12.
Article in English | MEDLINE | ID: mdl-30230713

ABSTRACT

AIMS: Cardiac repair has steered clinical attention and remains an unmet need, because available regenerative therapies lack robust mechanistic evidence. Pressure-controlled intermittent coronary sinus occlusion (PICSO), known to induce angiogenetic and vasoactive molecules as well as to reduce regional ischemia, may activate endogenous regenerative processes in failing myocardium. We aimed to investigate the effects of PICSO in patients with advanced heart failure undergoing cardiac resynchronization therapy. METHODS AND RESULTS: Eight out of 32 patients were treated with PICSO, and the remainder served as controls. After electrode testing including left ventricular leads, PICSO was performed for 20 min. To test immediate molecular responses, in both patient groups, coronary venous blood samples were taken at baseline and after 20 min, the time required for the intervention. Sera were tested for microRNAs and growth factors. To test the ability of up-regulated soluble factors on cell proliferation and expression of transcription factors [e.g. Krüppel-like factor 4 (KLF-4)], sera were co-cultured with human cardiomyocytes and fibroblasts. As compared with controls, significant differential expression (differences between pre-values and post-values in relation to both patient cohorts) of microRNA patterns associated with cardiac development was observed with PICSO. Importantly, miR-143 (P < 0.048) and miR-145 (P < 0,047) increased, both targeting a network of transcription factors (including KLF-4) that promote differentiation and repress proliferation of vascular smooth muscle cells. Additionally, an increase of miR-19b (P < 0.019) known to alleviate endothelial cell apoptosis was found, whereas disadvantageous miR-320b (P < 0.023) suspect to impair expression of c-myc, normally provoking cell cycle re-entry in post-mitotic myocytes and miR-25 (P < 0.023), decreased, a target of anti-miR application to improve contractility in the failing heart. Co-cultured post-PICSO sera significantly increased cellular proliferation both in fibroblasts (P < 0.001) and adult cardiomycytes (P < 0.004) sampled from a transplant recipient as compared with controls. Adult cardiomyocytes showed a seven-fold increase of the transcription factor KLF-4 protein when co-cultured with treated sera as compared with controls. CONCLUSIONS: Here, we show for the first time that PICSO, a trans-coronary sinus catheter intervention, is associated with an increase in morphogens secreted into cardiac veins, normally present during cardiac development, and a significant induction of cell proliferation. Present findings support the notion that epigenetic modifications, that is, haemodynamic stimuli on venous vascular cells, may reverse myocardial deterioration. Further investigations are needed to decipher the maze of complex interacting molecular pathways in failing myocardium and the potential role of PICSO to reinitiate developmental processes to prevent further myocardial decay eventually reaching clinical significance.


Subject(s)
Balloon Occlusion/methods , Cardiac Catheterization/methods , Coronary Circulation/physiology , Coronary Sinus/physiopathology , Coronary Vessels/physiopathology , Heart Failure/therapy , Aged , Biomarkers/blood , Female , Heart Failure/blood , Heart Failure/physiopathology , Humans , Kruppel-Like Factor 4 , Male , Middle Aged , Pressure
9.
Eur J Intern Med ; 48: 64-68, 2018 02.
Article in English | MEDLINE | ID: mdl-28978409

ABSTRACT

BACKGROUND: Subcutaneous implantable cardioverter-defibrillators (S-ICD) are an innovative and less invasive alternative to transvenous ICD (TV-ICD) in selected patients. We aimed to investigate the underlying diseases and the specific indications for implanting S-ICD in clinical practice, as well as the prevalence of shock delivery and complications. METHODS AND RESULTS: From December 2012, data of 236 patients (30,5% female; age 48,6±16,8years) were gathered from 12 centres in Austria. Follow-up data over a period of 1,7±1,1years were available for 231 patients (in total 359,2 patient-years). Predominant underlying diseases were ischemic cardiomyopathy (iCMP; 32,0%), idiopathic ventricular fibrillation (22,6%) and dilated cardiomyopathy (dCMP; 17,3%). The most frequent indications for implantation were sudden cardiac death survival (27,4%), primary prevention for iCMP (23,9%) and for dCMP (12,8%), and previous explantation of TV-ICD (12,4%). Appropriate shocks were documented in 16 patients (6,9%), iCMP being the predominant underlying disease. Arrhythmia conversion was successful in all patients, efficacy of the first shock was 96%. Inappropriate shock rate was 5,2%, predominantly caused by oversensing of T wave or artefacts. A device upgrade to an ICD system with pacing function was necessary in <1%. Clinical complications needing surgical revision occurred in 8 patients (3,5%). CONCLUSIONS: S-ICD were mostly implanted for primary prevention, one fourth of our cases were sudden death survivors. Clinical and functional complication rate was relatively low. In conclusion, S-ICD is a safe and efficient alternative in a larger population of ICD candidates, when no cardiac pacing is needed. EC-number: C-136-17.


Subject(s)
Death, Sudden, Cardiac/epidemiology , Death, Sudden, Cardiac/prevention & control , Defibrillators, Implantable , Equipment Failure/statistics & numerical data , Ventricular Fibrillation/therapy , Adult , Aged , Austria/epidemiology , Female , Humans , Male , Middle Aged , Primary Prevention , Registries , Retrospective Studies , Secondary Prevention , Treatment Outcome , Ventricular Fibrillation/etiology
12.
J Cardiothorac Surg ; 10: 39, 2015 Mar 25.
Article in English | MEDLINE | ID: mdl-25888033

ABSTRACT

INTRODUCTION: We report a rare but severe pacemaker complication of a pacemaker lead perforating the papillary muscle. This induced severe tricuspid regurgitation and right heart failure. Patients suffering from right heart failure have an increased operative risk of open-heart surgery and therefore represent a clinical challenge due to the lack of clear guidelines. CASE PRESENTATION: A 70-year-old male patient presented with severe tricuspid regurgitation and a history of decompensated right heart failure. One pacemaker lead was described as 'whipping'. Four years earlier he had received a VVIR pacemaker with a passive lead. This lead failed after three years and a new ventricular lead had been placed. We performed on-pump beating heart surgery after a multidisciplinary decision process. One lead was perforating the posterior papillary muscle, severely impairing valve movement. The tricuspid valve was replaced with a stented bioprosthesis. Epicardial pacemaker wires were placed on the right and left ventricle to enable cardiac resynchronization therapy in the case of postoperative heart failure. However, the patient recovered quickly without left ventricular pacing and could be discharged home 12 days after surgery. CONCLUSION: This particular case emphasizes the importance of meticulous surgical technique during pacemaker lead implantation and a tight postoperative follow-up including echocardiography in complicated cases. The management of patients with an indication for lead removal having developed secondary severe tricuspid valve dysfunction inducing ventricular impairment represents a clinical challenge and should be approached by a multidisciplinary team.


Subject(s)
Heart Valve Prosthesis Implantation , Pacemaker, Artificial/adverse effects , Papillary Muscles/injuries , Tricuspid Valve Insufficiency/etiology , Aged , Humans , Male , Papillary Muscles/surgery , Tricuspid Valve Insufficiency/diagnosis , Tricuspid Valve Insufficiency/surgery
15.
Foot Ankle Clin ; 17(3): 399-406, 2012 Sep.
Article in English | MEDLINE | ID: mdl-22938638

ABSTRACT

Stage I PTTD was defined by Johnson and Strom as tenosynovitis or tendinitis whereby tendon length remains normal, there is no hindfoot deformity, and diagnosis is basically clinical, characterized by swelling and tenderness posterior to the medial malleolus. The PTT has a hypovascular zone 40 mm proximal to the insertion of the tendon and 14 mm in length. Pain often is localized to this portion of the tendon. Tendon power might be normal, and the patient can perform single heel rise, sometimes with slight discomfort. This condition is often misdiagnosed as ankle sprain, which delays correct diagnosis and early treatment that may improve symptoms, stop the disease process, and prevent the development of adult acquired flatfoot deformity. Ultrasonography is a valuable adjunctive diagnostic tool for stage I PTTD, but the authors always indicate MRI for accurate diagnosis in such patients. Patients with stage I PTTD are first treated nonoperatively with nonsteroidal anti-inflammatory drugs for 5 days, cryotherapy, local ultrasound, and a PTTD airlift brace (Aircast) for 3 to 6 months. If symptoms persist, surgical debridement and synovectomy has been suggested. PTT tendoscopic synovectomy is a minimally invasive and effective surgical procedure to treat patients with stage I PTTD. It has the advantages of less wound pain, and fewer scar and wound problems. If tendon tear is observed during tendoscopy, it must be repaired with nonabsorbable sutures using a 3- or 4-cm incision.


Subject(s)
Posterior Tibial Tendon Dysfunction/surgery , Synovectomy , Arthroscopy , Debridement , Humans , Posterior Tibial Tendon Dysfunction/diagnosis , Tendinopathy/diagnosis , Tendinopathy/surgery , Tenosynovitis/diagnosis , Tenosynovitis/surgery
17.
Eur J Nucl Med Mol Imaging ; 39(3): 408-15, 2012 Mar.
Article in English | MEDLINE | ID: mdl-22083298

ABSTRACT

PURPOSE: Cardiac contractility modulation (CCM) is a device-based therapy that involves delivery of nonexcitatory electrical signals resulting in improved ventricular function and a reversal of maladaptive cardiac fetal gene programmes. Our aim was to evaluate whether acute application of CCM leads to an increase in myocardial oxygen consumption (MVO(2)) in patients with chronic heart failure using (11)C-acetate positron emission tomography (PET). METHODS: We prospectively enrolled 21 patients with severe heart failure. (11)C-acetate PET was performed before and after activation of the CCM device. In 12 patients an additional stress study with dobutamine was performed. RESULTS: Under resting conditions, the values of myocardial blood flow (MBF), MVO(2) and work metabolic index (WMI, reflecting myocardial efficiency) with the CCM device activated did not differ significantly from the values with the device deactivated. MBF was 0.81 ± 0.18 ml min(-1) g(-1) with the device off and 0.80 ± 0.15 ml min(-1) g(-1) with the device on (p = 0.818), MVO(2) was 6.81 ± 1.69 ml/min/100 g with the device off and 7.15 ± 1.62 ml/min/100 g with the device on (p = 0.241) and WMI was 4.94 ± 1.14 mmHg ml/m(2) with the device off and 5.21 ± 1.36 mmHg ml/m(2) with the device on (p = 0.344). Under dobutamine stress, the values of MBF, MVO(2) and WMI with the CCM device activated did not differ from the values with the device deactivated, but were significantly increased compared with the values obtained under resting conditions. CONCLUSION: These results indicate that CCM does not induce increased MVO(2), even under stress conditions.


Subject(s)
Heart Failure/physiopathology , Heart Failure/therapy , Heart-Assist Devices , Myocardial Contraction , Myocardium/metabolism , Acetates , Aged , Carbon Radioisotopes , Energy Metabolism , Female , Heart Failure/diagnostic imaging , Heart Failure/metabolism , Humans , Male , Middle Aged , Oxidation-Reduction , Oxygen/metabolism , Positron-Emission Tomography , Time Factors , Treatment Outcome
18.
Heart Lung ; 41(4): 382-6, 2012.
Article in English | MEDLINE | ID: mdl-22019351

ABSTRACT

OBJECTIVE: The 3-bp deletion in exon 2 of the Lamin A/C (LMNA) gene has not been described in association with dilated cardiomyopathy, which is characterized by progressive heart failure, atrioventricular (AV) block, tachyarrhythmias, and variable skeletal muscle involvement. CASE REPORT: In a 43-year-old woman with a long-term history of palpitations and newly diagnosed AV blocks I and II, ventricular ectopic beats, inducible nonsustained ventricular tachycardias (VTs), cardiac arrest, and successful resuscitation, an implantable cardioverter defibrillator was successfully implanted. Her family history was positive for sudden cardiac death (her father and sister), dyspnea and heart failure (her grandmother and sister), palpitations (her brother), and elevated levels of creatine-kinase (CK) (her sister). Two cousins had died of nonspecific muscular dystrophy at ages 10 years and 11 years. Upon neurological investigations revealing sore neck muscles, reduced tendon reflexes, and detached, spot-like white matter lesions bilaterally, a neuromuscular disorder was suspected. The direct sequencing of all exons and flanking intronic regions of the LMNA gene detected the heterozygote 3-bp deletion (AAG) c.367_369del in exon 2 of the gene. This mutation resulted in the deletion of a lysine at position 123 (p.lys123del) in the lamin A/C protein. CONCLUSIONS: The novel 3-bp deletion in exon 2 of the LMNA gene may phenotypically manifest as dilated cardiomyopathy, heart failure, severe tachyarrhythmias, and muscular dystrophy. Sudden cardiac death from ventricular fibrillation may be prevented in LMNA mutation carriers if the diagnosis is established early enough to implant a cardioverter defibrillator.


Subject(s)
Atrioventricular Block/genetics , Cardiomyopathy, Dilated/genetics , Gene Deletion , Lamin Type A/genetics , Adult , Atrioventricular Block/therapy , Defibrillators, Implantable , Exons/genetics , Female , Humans , Pedigree , Phenotype , Tachycardia, Ventricular/genetics
20.
Rev. venez. cir. ortop. traumatol ; 43(2): 16-20, dic. 2011. ilus
Article in Spanish | LILACS | ID: lil-654076

ABSTRACT

Diversos tipos de fijación han sido utilizados para la artrodesis Tibiotalocalcánea. El propósito de este estudio es analizar retrospectivamente el uso de la placa bloqueada de humero proximal para la fijación de esta artrodesis. Entre Julio 2007 y Julio 2010 se realizaron 12 artrodesis tibiotalocalcánea en 12 pacientes con placa bloqueada de húmero proximal a través de un abordaje lateral extendido previa resección del Peroné distal. Los pacientes presentaban como diagnóstico preoperatorio: artrítis reumatoidea, artropatía de Charcot y osteoartrosis postraumática. Los pacientes fueron seguidos por un periodo de 7 meses y 3 años (media de 19 meses). Todos los pacientes obtuvieron fusión de sus artrodesis en un periodo de 3 a 6 meses. Este estudio demuestra que el uso de placa humeral bloqueada para la fijación de artrodesis tibiotalocalcánea es una excelente opción por la alta incidencia de fusión de la artrodesis y facilidad la lograr correcta alineación del retropié por su forma


There are many options for Tibiotalocalcaneal arthrodesis. The aim of this study is to retrospectively review the role of the inverted proximal humeral locking plate to fix this arthrodesis. Between July 2007 and July 2010, 12 tibiotalocalcaneal arthrodesis were performed in 12 patients with the inverted proximal humeral locking plate thru an extended lateral ankle approach resecting the distal fibula. Patients preoperative diagnosis were : rheumathoid arthritis, Charcot arthropaty and posttraumatic osteoarthrosis. Patients were followed for a period between 7 months and 3 years (19 months). All the patients fused they arthrodesis in a period of 3 to 6 months. This study showed that the inverted proximal humeral locking plate is an excellent option for tibiotalocalcaneal arthrodesis because of the high fusion rate and the facility for correct hindfoot alignment because of the plate shape


Subject(s)
Humans , Male , Adult , Female , Middle Aged , Arthritis, Rheumatoid/pathology , Arthrodesis , Arthrodesis/methods , Arthropathy, Neurogenic/pathology , Humeral Fractures/surgery , Humeral Fractures , Osteoarthritis/pathology , Bone Plates , Rheumatology
SELECTION OF CITATIONS
SEARCH DETAIL
...