Biomedical subjects

C Wolpert

Publications and source records attributed to C Wolpert.

At least 37 records · Page 2Linked to original sources

PubMed2000

[Implantable cardioverter/defibrillator: long-term stability of the defibrillation threshold with a unipolar electrode configuration (active-can")].

The majority of cardioverter/defibrillator (ICD) implantations are currently performed with a non-thoracotomy approach. From November 1993 to January 1995, 46 patients underwent implantation of a PCD 7219C with an "active-can" lead configuration at our institution. While the chronic stability of the defibrillation threshold (DFT) for an epicardial lead system is well established, the results are still inconsistent for non-thoracotomy lead systems. Accordingly, the aim of the present study was to compare the acute and chronic defibrillation thresholds of the ICDs implanted with an "active-can" lead system in order to assess the chronic stability of these systems. The defibrillation energy requirements were measured at implant, prior to hospital discharge, three, six and twelve months after implantation of the defibrillator. The patient group consisted of 8 females and 38 males with a mean age of 57.2 years. The mean left ventricular ejection fraction was 43.8%. The most frequent underlying heart disease was coronary artery disease in 31 of 46 patients. Eight patients had idiopathic dilated cardiomyopathy. In 39 of 46 patients, the defibrillation threshold could be successfully determined at all 4 time points after implantation. The mean defibrillation energy requirement at the time of implantation was 9.2 +/- 5.9 Joules (J). The subsequent mean energy requirements were 7.6 +/- 4.8 J at pre-hospital discharge, 8.6 +/- 5.7 J at the 3 month, 8.1 +/- 6.0 J at the 6 month and 8.6 +/- 5.8 J at the 12 month follow-up visits. The mean defibrillation threshold was lowest at the time of prehospital discharge, significantly lower than at the time of initial implantation (p = 0.021). However, at all later time points up to one year, there was no significant difference in the DFT as compared with the time of initial implantation. Comparing the DFT at the time of implantation and the DFT at all other time points, there were no significant differences (9.23 vs. 8.56 J, p = 0.291). Although there was an initial decrease in the DFT at seven to ten days, the long-term stability of the DFT up to one year remained stable in the devices with the "active-can" lead system.

Adult↗

PubMed2000

Clinical experience with implantable atrial and combined atrioventricular defibrillators.

UNLABELLED: The high prevalence of atrial fibrillation (AF) and its clinical complications, the poor efficacy of medical therapy for preventing recurrences, and dissatisfaction with alternative modes of therapy stimulated interest in implantable atrial and combined atrioventricular defibrillators. In a multicenter study, the safety and efficacy of a stand alone implantable atrial defibrillator, the Metrix system, were evaluated. The device was implanted in 51 patients with highly symptomatic episodes of AF refractory to pharmacological treatment. During a follow-up of 9 months, 96% of 227 spontaneous AF episodes were successfully converted to sinus rhythm in 41 patients. In 62 episodes (27%), several shocks and/or additional drug treatment were required to maintain stable sinus rhythm because of early recurrences of AF. A total of 3719 shocks were delivered and no induction of ventricular proarrhythmia or inaccurately synchronized shocks occurred. The AF detection algorithm exhibited a 100% specificity for the recognition of sinus rhythm and a 92.3% sensitivity for the detection of AF. The combined atrioventricular defibrillator, Jewel AF 7250, was evaluated in a multicenter, randomized, cross-over trial. The primary study objectives included: overall safety as determined by complications-free survival at 6 months, efficacy of tiered atrial pacing and defibrillation therapies for termination of spontaneous atrial tachycardias (AT) and AF, and relative sensitivity of a new dual-chamber detection algorithm. The device was implanted in 211 patients with either a history of ventricular tachyarrhythmias (VT/VF) alone or with a history of both AT/AF and VT/VF. During a mean follow-up of 4.5 months, it has been shown that the Jewel AF is safe and effective in treating atrial and ventricular tachyarrhythmias. Pace termination of 85% of AT episodes were achieved with painless delivery of antitachycardia pacing; additional 35% of AT episodes were terminated by high frequency burst pacing. CONCLUSIONS: The stand alone implantable atrial defibrillator may be safe and clinically useful in selected patients for the treatment of highly symptomatic, drug resistant recurrences of AF. The combined atrioventricular defibrillator may be particularly indicated in patients presenting with both a history of atrial and ventricular tachyarrhythmias.

Aged↗

PubMed2000

Predictors of success in radiofrequency catheter ablation of atrial flutter.

Radiofrequency catheter ablation of typical atrial flutter at the isthmus between the tricuspid annulus and the inferior vena cava is established. However in selected patients, the creation of a continuous linear lesion at the targeted isthmus requires a lengthened procedure or is not feasible at all and atrial flutter recurrences are common. In a retrospective analysis, we found that an intraoperatively determined distance between the tricuspid annulus and the inferior vena cava of <.2.5 cm is an independent predictor of a lengthened or failed ablation procedure. Additional equipment, e.g., long introducer sheaths, adapted ablation catheter design, or irrigated tip ablation, as well as alternative ablation approaches, e.g., linear lesions between the tricuspid annulus and Eustachian ridge, have been invented in order to increase the acute success rate or decrease fluoroscopy and procedure time. In a prospective study on the effects of various conduction properties at the isthmus between tricuspid annulus and inferior vena cava following radiofrequency ablation of atrial flutter, we showed previously that others than a complete bidirectional conduction block predicts a high recurrence rate of atrial flutter. For determination of transisthmal conduction properties following ablation, established mapping approaches are documentation of double potentials at the ablation line and right atrial activation sequence following posteroseptal and low lateral right atrial pacing. Novel threedimensional mapping systems, i.e., Carto(R) and EnSite(R), may further enhance the accuracy of conventional mapping techniques.

Atrial Flutter↗

PubMed2000

Hospital readmission after transvenous cardioverter/defibrillator implantation; a single centre study.

AIMS: Hospital readmission after implantation of cardioverter/defibrillators has a major impact on quality of life and cost-effectiveness in defibrillator patients. Rehospitalization has not been studied in large patient populations with modern transvenous defibrillation systems. METHODS AND RESULTS: We report on incidence, reasons, time in follow-up, duration and predictors of hospital readmission in 180 patients after transvenous implantation of a cardioverter/defibrillator during a follow-up period of 25+/-18 months. There were 156 readmissions in 79 patients with a 0.87 readmission rate per patient during the time followed, a 0.46 readmission rate per patient-year of follow-up and a 0.38 readmission rate per patient-year of follow-up for cardiac reasons. The majority of readmissions was caused by multiple appropriate shock interventions (26%), battery depletion (19%) and lead- and device-related complications (14%). The time to first hospital readmission was 12+/-9 months for arrhythmia-related and 20+/-16 months for other cardiac-related reasons (P<0.05), and could not be predicted by clinical variables, respectively. The duration of rehospitalization was 14+/-15 days for cardiac-related reasons and 12+/-17 days for arrhythmia-related reasons. Age >60 years was an independent predictor of rehospitalization time per patient-year of follow-up for both cardiac-related (P<0.005) and arrhythmia-related reasons (P<0.05). CONCLUSION: The rate of hospital readmission per patient-year of follow-up is as high as 0.46 after implantation of a modern cardioverter/defibrillator. Rehospitalization time in such patients is significantly longer in the patient cohort >60 years. The majority of readmissions is caused by multiple appropriate shock treatments. Further studies are needed to systematically investigate strategies for the prevention of rehospitalization in modern ICD therapy.

Adolescent↗

PubMed2000

Comparison of spontaneous atrial fibrillation electrogram potentials with the P-wave electrogram amplitude in dual chamber pacing with unipolar atrial sensing.

AIMS: Although bipolar sensing is recommended and desirable in patients with dual chamber pacemakers (DDD) and intermittent atrial fibrillation (AF) it is a clinical reality that some patients who are given unipolar atrial leads without a prior history of AF may develop intermittent AF during follow-up. It was therefore the purpose of this prospective study to compare the electrogram amplitudes of AF potentials with sinus rhythm P-wave potentials as a relevant factor for appropriate mode switching in dual chamber pacing with unipolar atrial sensing. METHODS AND RESULTS: Forty-two patients with dual chamber pacemakers, unipolar atrial leads and intermittent AF were studied. Aside from measuring the P-wave potential, it was possible in 14 patients (4 women, 10 men; mean age: 61.8 (+/- 13.3) years) additionally to document spontaneous AF electrogram potentials using pacemaker telemetry. A prospective survey study was performed including a 6 month follow-up period with an outpatient clinic visit every 2-3 weeks. The mean P-wave electrogram amplitude was 3.4 (+/- 1.8) mV (range: 1.4-7.4) compared with the mean amplitude during AF of 2.04 (+/- 1.26) mV (range: 0.8-5.2 mV) indicating a significant attenuation of 40% during AF (P < 0.0001). A linear correlation regression analysis revealed that there was a significant correlation between the P-wave and the AF amplitude (P < 0.0001), with a correlation coefficient of r = 0.867. CONCLUSION: Once it is known that a substantial reduction exists in electrogram amplitude, compared with the P wave electrogram potential, an estimate can be made of whether AF potentials will be sensed, if the programming of atrial sensitivity is congruent with the P-wave characteristics and the presence or absence of myopotential triggering.

Atrial Fibrillation↗

PubMed1999

Hemodynamic and cardiorespiratory function following internal atrial defibrillation for chronic atrial fibrillation.

Internal atrial defibrillation (IAD) is able to restore sinus rhythm in patients with chronic atrial fibrillation (AF) and failed external electrical and/or pharmacologic cardioversion. To assess whether cardiorespiratory and hemodynamic function improve after IAD, 35 patients were prospectively investigated during constant workload exercise by spiroergometry and Doppler echocardiography before IAD, and 1 day and 1 month after IAD. Oxygen uptake kinetics, ventilation, left atrial mechanical function, and pulmonary artery pressure were determined simultaneously at rest and during steady state. During the serial follow-up, 20 patients maintained sinus rhythm. The time interval for achieving the steady state (146 +/- 53 vs 132 +/- 42 seconds; p = 0.5) and the oxygen deficit (645 +/- 190 vs 670 +/- 174 ml; p = 0.7) were not different before and 1 day after IAD, but decreased significantly after 1 month (98 +/- 16 seconds, p = 0.01 and 487 +/- 72 ml, p = 0.02). Exercise pulmonary artery systolic pressures were 38 +/- 13 mm Hg before IAD, increased significantly to 46 +/- 11 mm Hg on day 1 (p = 0.03), and decreased below baseline values at 1 month to 31 +/- 12 mm Hg (p = 0.07). Peak A-wave velocities increased from 0.51 +/- 0.1 m/s after 1 day to 0.67 +/- 0.2 m/s after 1 month (p = 0.03). Restoration of sinus rhythm in patients with AF resistant to external electrical and/or pharmacologic cardioversion improves hemodynamic and cardiorespiratory function at daily activity exercise levels.

Atrial Fibrillation↗

PubMed1999

Radiofrequency ablation of atrial flutter due to administration of class IC antiarrhythmic drugs for atrial fibrillation.

In selected patients, atrial fibrillation (AF) converts to atrial flutter (AFI) due to treatment with class IC antiarrhythmic drugs. In this study, we prospectively investigated the effects of AFI ablation and continuation of drug therapy in patients with AF who developed AFI due to long-term administration of class IC antiarrhythmic drugs. The study population consisted of 187 patients from an AF registry with paroxysmal AF who were orally treated with flecainide (n = 96) or propafenone (n = 91). Twenty-four patients (12.8%) developed AFI during the course of treatment. In 20 of these patients (10.7%), electrophysiologic study revealed typical AFI. These patients underwent radiofrequency ablation of AFI. Ablation failed in 1 patient. All patients continued preexisting drug treatment. Recurrence of AF was assessed by ambulatory Holter monitoring and serial questionnaires. During a mean follow-up of 11 +/- 4 months, the incidence of AF episodes was significantly lower in patients with a combined therapy (2.7 +/- 3.6 per year) than in control subjects with a sole drug treatment (7.8 +/- 9.2 per year, p <0.05) and than before therapy (10.2 +/- 5.4 per year, p <0.001). Subgroup analysis revealed that 7 patients (36.8%) remained symptom free with no evidence of atrial tachyarrhythmia. Eight additional patients (42.1%) had ongoing paroxysmal AF, however, with a significantly lower incidence of AF episodes than before therapy (2.3 +/- 1.6 per year vs 11.5 +/- 5.0 per year, p <0.001). In the remaining 4 patients (14.7%), no beneficial effect of AFI ablation was found. It is concluded that in patients with AF who develop typical AFI due to administration of class IC antiarrhythmic agents, a combined therapy with catheter ablation of AFI and continuation of drug treatment is highly effective in reducing occurrence and duration of atrial tachyarrhythmias.

Administration, Oral↗

PubMed1999

[Clinical experience with the implantable atrial defibrillator (atrioverter) in patients with atrial fibrillation. Metrix Investigators].

Due to the limited efficacy of drug therapy in atrial fibrillation and the high rate of recurrence, strong efforts were made to find non-pharmacological strategies. For three years now, the implantable atrial defibrillator Metrix from InControl has been available as an alternative therapy. From October 1995 to the present the atrial defibrillator was implanted in 179 patients worldwide. The sensitivity of the system and its algorithms to detect atrial fibrillation is 90%; the specificity to detect sinus rhythm is 100%. In 121 of 179 patients, 748 episodes of spontaneous atrial fibrillation were treated with 2.4 shocks per episode. No proarrhythmic event or stroke was seen. A cardioversion to sinus rhythm could be achieved in 95% of patients; the overall clinical success rate was 88%. In 7% of all patients, early recurrence of atrial fibrillation (ERAF) occurred that could not be converted into stable sinus rhythm after further cardioversions and antiarrhythmic therapy. In 4.1% there were lead-related complications, in 4 patients the device had to be explanted because of ineffective therapy, and in 3 patients the device had to be changed because of loss of telemetry or early depletion of battery. In 8 patients, postoperative complications were seen (infections, pneumothorax and thrombosis of the subclavian vein). Overall, the implantable atrial defibrillator Metrix is an effective and safe alternative in treating atrial fibrillation.

Adult↗

PubMed1999

Transverse conduction capabilities of the crista terminalis in patients with atrial flutter and atrial fibrillation.

OBJECTIVES: In this study, the transverse conduction capabilities of the crista terminalis (CT) were determined during pacing in sinus rhythm in patients with atrial flutter and atrial fibrillation. BACKGROUND: It has been demonstrated that the CT is a barrier to transverse conduction during typical atrial flutter. Mapping studies in animal models provide evidence that this is functional. The influence of transverse conduction capabilities of the CT on the development of atrial flutter remains unclear. METHODS: The CT was identified by intracardiac echocardiography. The atrial activation at the CT was determined during programmed stimulation with one extrastimulus at five pacing sites anteriorly to the CT in 10 patients with atrial flutter and 10 patients with atrial fibrillation before and after intravenous administration of 2 mg/kg disopyramide. Subsequently, atrial arrhythmias were reinduced. RESULTS: At baseline, pacing with longer coupling intervals resulted in a transverse pulse propagation across the CT. During shorter coupling intervals, split electrograms and a marked alteration of the activation sequence of its second component were found, indicating a functional conduction block. In patients with atrial flutter, the longest coupling interval that resulted in a complete transverse conduction block at the CT was significantly longer than that in patients with atrial fibrillation (285 +/- 49 ms vs. 221 +/- 28 ms; p < 0.05). After disopyramide administration, a transverse conduction block occurred at longer coupling intervals as compared with baseline (287 +/- 68 ms vs. 250 +/- 52 ms; p < 0.05). Subsequently, a sustained atrial arrhythmia was inducible in 15 of 20 patients. This was atrial flutter in three patients with previously documented atrial fibrillation and in eight patients with history of atrial flutter. Mapping revealed a conduction block at the CT in all of these patients. CONCLUSIONS: It was found that the CT provides transverse conduction capabilities and that the conduction block during atrial flutter is functional. Limited transverse conduction capabilities of the CT seem to contribute to the development of atrial flutter.

Aged↗

PubMed1999

Inappropriate implantable defibrillator discharge caused by a retained pacemaker lead fragment.

INTRODUCTION: Inappropriate discharge is still a major issue of implantable cardioverter defibrillator therapy. The diagnostic options of modern devices facilitate classification of the underlying abnormality. METHODS AND RESULTS: A 65-year-old woman with depressed left ventricular performance received spurious shocks from an ICD, implanted for ventricular tachycardia. A lead fragment of an explanted VVI pacemaker system could be identified as cause of erroneous ventricular fibrillation detection by the ICD. The electrical noise caused by interaction between the lead remnant and the ICD lead was detectable even on the surface ECG. CONCLUSION: Based on our findings, removal of fragmented lead material should be considered prior to ICD implantation, to avoid potentially adverse and harmful interactions with ICD systems.

Aged↗

PubMed1999

Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients.

OBJECTIVE: Chiari malformations are regarded as a pathological continuum of hindbrain maldevelopments characterized by downward herniation of the cerebellar tonsils. The Chiari I malformation (CMI) is defined as tonsillar herniation of at least 3 to 5 mm below the foramen magnum. Increased detection of CMI has emphasized the need for more information regarding the clinical features of the disorder. METHODS: We examined a prospective cohort of 364 symptomatic patients. All patients underwent magnetic resonance imaging of the head and spine, and some were evaluated using CINE-magnetic resonance imaging and other neurodiagnostic tests. For 50 patients and 50 age- and gender-matched control subjects, the volume of the posterior cranial fossa was calculated by the Cavalieri method. The families of 21 patients participated in a study of familial aggregation. RESULTS: There were 275 female and 89 male patients. The age of onset was 24.9+/-15.8 years (mean +/- standard deviation), and 89 patients (24%) cited trauma as the precipitating event. Common associated problems included syringomyelia (65%), scoliosis (42%), and basilar invagination (12%). Forty-three patients (12%) reported positive family histories of CMI or syringomyelia. Pedigrees for 21 families showed patterns consistent with autosomal dominant or recessive inheritance. The clinical syndrome of CMI was found to consist of the following: 1) headaches, 2) pseudotumor-like episodes, 3) a Meniere's disease-like syndrome, 4) lower cranial nerve signs, and 5) spinal cord disturbances in the absence of syringomyelia. The most consistent magnetic resonance imaging findings were obliteration of the retrocerebellar cerebrospinal fluid spaces (364 patients), tonsillar herniation of at least 5 mm (332 patients), and varying degrees of cranial base dysplasia. Volumetric calculations for the posterior cranial fossa revealed a significant reduction of total volume (mean, 13.4 ml) and a 40% reduction of cerebrospinal fluid volume (mean, 10.8 ml), with normal brain volume. CONCLUSION: These data support accumulating evidence that CMI is a disorder of the para-axial mesoderm that is characterized by underdevelopment of the posterior cranial fossa and overcrowding of the normally developed hindbrain. Tonsillar herniation of less than 5 mm does not exclude the diagnosis. Clinical manifestations of CMI seem to be related to cerebrospinal fluid disturbances (which are responsible for headaches, pseudotumor-like episodes, endolymphatic hydrops, syringomyelia, and hydrocephalus) and direct compression of nervous tissue. The demonstration of familial aggregation suggests a genetic component of transmission.

Adolescent↗

PubMed1999

Percutaneous extraction of an abandoned coiled pacing lead.

Abandoning redundant pacing leads has been an accepted practice in most cases. Late migration of a lead is a rare, unpredictable, and potentially lethal complication of this approach and requires immediate removal. We report the case of an atrial pacing lead that had migrated and was found coiled in the right atrium. It was removed by a snare catheter via a femoral approach.

Aged↗

PubMed1999

Verification of linear lesions using a noncontact multielectrode array catheter versus conventional contact mapping techniques.

INTRODUCTION: Creation of linear lesions is an established ablation goal. Verification of complete conduction block at the ablation line is required to determine ablation success. Conventional mapping techniques are sequential endocardial activation mapping and documentation of double potentials. Recently, a noncontact multielectrode array catheter was developed that allows instantaneous three-dimensional mapping by simultaneous reconstruction of > 3,000 electrograms. In this study, we prospectively compared the accuracy of noncontact mapping to identify discontinuities in linear lesions and to verify a conduction block with that of conventional mapping techniques. METHODS AND RESULTS: In 12 patients with atrial flutter, radiofrequency pulses were applied between the tricuspid annulus and either the inferior vena cava or the eustachian ridge. Following each application, pulse propagation at the ablation line was determined during pacing by conventional mapping techniques. The findings were compared to high-density isopotential mapping using the noncontact multielectrode array catheter. It was found that noncontact mapping reliably distinguished conduction delays from a conduction block as defined by contact mapping. In addition, noncontact mapping instantaneously identified the area where a discontinuity in the line of block was present. In these patients, complete conduction block was achieved by radiofrequency pulses guided by the noncontact mapping system. CONCLUSION: Noncontact mapping is highly accurate in distinguishing conduction delays from a complete conduction block. By providing an instantaneous high-density propagation vector at all sites along the ablation line, three-dimensional isopotential mapping is helpful in localizing discontinuities of linear lesions and, thus, may facilitate the creation of a complete conduction block.

Adult↗

PubMed1998

Echocardiographic parameters for predicting maintenance of sinus rhythm after internal atrial defibrillation.

Chronic atrial fibrillation (AF), which is refractory to external electrical direct current shock and/or pharmacologic cardioversion, may be successfully cardioverted using internal atrial defibrillation. To avoid unnecessary procedures, it is important to be able to predict which patients will revert to AF. Thirty-eight patients with chronic AF underwent successful internal atrial defibrillation and were followed for 6 months after restoration of sinus rhythm. Left atrial (LA) diameter, left ventricular ejection fraction, maximum LA appendage area, and peak emptying velocities of the LA appendage were analyzed to determine which of these factors were associated with recurrence of AF. Forty-nine percent of patients had a recurrence of AF within 6 months following internal atrial defibrillation. The preprocedural ejection fraction (mean +/- SD 59 + 14% vs 57 + 13%, p = 0.63), LA diameter (4.2 +/- 0.6 cm vs 4.5 +/- 0.6 cm, p = 0.16), and LA appendage area (5.0 +/- 1.5 cm2 vs 5.8 +/- 1.5 cm2, p = 0.13) did not differ significantly between patients who maintained sinus rhythm and those who had recurrence of AF. Peak emptying velocities of the LA appendage before cardioversion were significantly lower in patients with recurrence of AF compared with patients who maintained sinus rhythm (0.26 +/- 0.1 m/s vs 0.49 +/- 0.17 m/s, p = 0.001). A peak emptying velocity <0.36 had a sensitivity of 82% and a specificity of 83% for predicting recurrence of AF.

Aged↗

PubMed1998

[Catheter ablation of atrial flutter. A dependable therapeutic procedure].

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Atrial Flutter↗

PubMed1998

[Circadian and weekly distribution of malignant ventricular arrhythmias in patients with coronary heart disease or dilatative cardiomyopathy who have an implanted cardioverter-defibrillator].

BACKGROUND AND OBJECTIVE: Epidemiological studies have demonstrated a circadian distribution of sudden cardiac death (SD) and acute myocardial infarction (AMI), with a maximum frequency of events during the morning hours. Recently an analysis of computer recordings of implanted cardioverter/defibrillators has confirmed these findings with respect to SD. The majority of these studies concerned patients with coronary heart disease. In a prospective study we evaluated the circadian and weekly distribution of malignant ventricular tachyarrhythmias (VTA) in patients with a nonischaemic cardiac disease, namely dilated cardiomyopathy (CMP), and those with coronary heart disease (CHD). PATIENTS AND METHODS: Over a mean period of 25 +/- 9 months computer-stored data and cardiac electrograms recorded from the implanted cardioverter/defibrillators (ICD) were analysed in 28 patients with CHD and 11 with DCMP. The circadian and weekly distribution of VTA was obtained, using customary arrhythmia classification and the stored and timed events. RESULTS: Patients with CHD had a maximal frequency of VTA or ventricular fibrillation (VF) during the morning, with a peak between 9 and 10 o/c, while those with DCMP were at a higher risk of VTA or VF in the later afternoon and early evening. Regarding the frequency of events during the week, a significantly higher incidence of VTA was recorded on Saturdays in those with CHD, but on Mondays and Wednesdays in those with DCMP. INTERPRETATION: The circadian and weekly distribution of VTA differs significantly between patients with CHD and those with DCMP. A possible reason for this difference may be different trigger mechanisms in the two types of cardiac disease, since transient ischaemia is unlikely to be the cause in patients with nonischaemic DCMP.

Cardiomyopathy, Dilated↗

PubMed1998

Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.

Tuberous sclerosis complex (TSC) is an autosomal dominant multi-system disorder with two known disease loci on chromosomes 9q34 (TSC1) and 16p13.3 (TSC2). TSC has a prevalence of approximately 1 in 5,000-6,000, exhibits incomplete penetrance, and occurs in all racial groups. Our laboratory has undertaken the complete mutation analysis of the TSC2 gene in 42 TSC families using single-strand conformation polymorphism analysis and reverse transcription-polymerase chain reaction. Of the total of 42 families, 16 show evidence of linkage to the chromosome 16 TSC2 locus and 26 are either sporadic or too small to establish chromosome linkage. The TSC2 gene spans at least 45 kilobases of genomic DNA, has 41 known exons, and codes for a 5,474-base pair transcript. After complete gene analysis, 16 TSC2 mutations have been identified, including DNA insertions, deletions, splice site mutations, and amino acid substitutions. The majority of putative TSC2 mutations were found in sporadic rather than TSC2-linked families. We have also detected 15 polymorphisms which occur in the TSC2 gene.

Amino Acid Substitution↗

PubMed1998

Prospective evaluation of shoulder-related problems in patients with pectoral cardioverter-defibrillator implantation.

BACKGROUND: The pectoral approach to implantation of cardioverter defibrillators (ICDs) has become a standard in defibrillator therapy because of reduced generator size, weight, and volume. But the size of these devices is still comparable to the size of the early conventional antibradycardia pacemakers that were associated with a number of significant pocket- and shoulder-related problems after implantation in the pectoral region. In a prospective, single-center study of 50 patients with subpectoral implantation of a fourth-generation ICD, the ipsilateral shoulder joint was evaluated regarding active shoulder motility, shoulder-related pain, shoulder function, shoulder elevation, insertion tendinitis, and morphologic alterations of the shoulder. METHODS AND RESULTS: The shoulder was evaluated before implantation and at 3, 6, and 12 months after implantation. Shoulder motility was documented by evaluating active abduction, forward flexion, and external rotation. Shoulder-related pain and function were documented by the "Basic Shoulder Evaluation Form," insertion tendinitis was diagnosed by standardized palpation and the impingement test, and morphologic alterations were documented by ultrasound and radiograph of the shoulder. Three months after implantation, 20 (40%) patients had a reduced active abduction, 30 (60%) patients had an impaired active forward flexion, and eight (16%) patients had a reduced external rotation. Thirty-one (62%) patients reported shoulder-related pain or impaired shoulder function according to the "Basic Shoulder Evaluation Form." Twenty-four (48%) patients showed a shoulder elevation and 21 (42%) patients demonstrated clinical signs of insertion tendinitis. After 12 months the number of patients with reduced active abduction, forward flexion, and external rotation dropped to four (8%). Shoulder-related pain and reduced function were documented in seven (13%) patients, four (8%) patients still had shoulder elevation, and five (10%) patients still had signs of insertion tendinitis. None of the postoperatively performed ultrasounds or radiographs showed any pathologic shoulder alterations. No predictors for the occurrence of shoulder-associated problems could be found. CONCLUSIONS: (1) Decreased active shoulder motility, shoulder-related pain, reduced function, shoulder elevation, and insertion tendinitis of the ipsilateral shoulder joint are diagnosed in many patients 3 months after subpectoral ICD implantation. (2) After 12 months the number of patients with impaired shoulder motility, function, shoulder-related pain, shoulder elevation, and insertion tendinitis decreased significantly. (3) Ultrasound and radiographs of the ipsilateral shoulder showed no evidence of pathologic morphologic alterations after subpectoral ICD implantation. (4) No shoulder-associated problems required an operative revision of the subpectoral generator pocket.

Defibrillators, Implantable↗