Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy.

BACKGROUND AND PURPOSE: To describe the long-term follow-up of a cohort of 22 patients with the Miyoshi phenotype of distal muscular dystrophy (MMD). METHODS: A long-term clinical follow-up study was conducted. Patients were genotyped for dysferlin (MMD1) or anoctamin 5 (MMD3) mutations. Patients also underwent cardiological evaluation. RESULTS: There were 10 patients with MMD1, eight patients with MMD3 and four patients with linkage to chromosome 10 (MMD2). All patients deteriorated over 5.7 (range: 4.2-6.6) years of follow-up. Weakness increased significantly (P < 0.035) in all but the neck extensor, serratus anterior, and wrist flexor and extensor muscles. The decrease of strength was most pronounced in the iliopsoas (15%), toe extensors (15%), anterior tibial and peroneal muscles (10%). Patients with MMD1 showed early onset of the disease (mean 22 years) with typically symmetrical distribution of weakness starting in the calf muscles. Patients with MMD1 had a worse clinical course compared with patients with MMD3. Ninety percent of the former had to make use of a wheelchair within 15 years after onset of the disease, whereas patients with MMD3, who have a significantly later onset (mean 35 years) of asymmetrical calf muscle weakness and atrophy, remained ambulant during the first 15 years of their disease. None of the patients with MMD2 became fully confined to the wheelchair. None of the 22 MMD phenotype patients had heart disease. CONCLUSIONS: Patients with MMD1 have a worse clinical course compared with patients with MMD3. There are no cardiological abnormalities in all MMD categories.

Dizzy spells in a patient with hypertrophic obstructive cardiomyopathy and a pacemaker.

Pacemaker syndrome represents the clinical consequences of the haemodynamic adverse effects of atrioventricular asynchrony during pacing. Patients suffering from hypertrophic cardiomyopathy may be particularly sensitive to these effects because of the importance of atrial systolic contribution to left ventricular diastolic filling. In this case report, we describe the symptoms and cause of pacemaker syndrome in a patient with hypertrophic obstructive cardiomyopathy.

Clinical application of pacemakers in atrial tachyarrhythmias.

The diagnostic programmes of modern pacemakers have increased our knowledge of atrial tachyarrhythmias (ATAs) in chronically paced patients. These programmes also support the evaluation of the effects of pharmacological treatment of ATAs. The success of interruption and/or prevention of ATAs with pacemakers depends strongly on the diagnostic accuracy and the properties of the pacing algorithms, their individual programming and the site and configuration of the pacing leads. Atrial septum pacing can be beneficial in patients with paroxysmal atrial fibrillation and prolonged P wave duration. Recent large-scale studies on preventive and interruptive atrial pacing of ATAs show modestly positive or no results. Therefore, atrial pacing therapy for ATAs should be considered cautiously, serving as an adjuvant to pharmacological treatment rather than as a primary intervention. This also applies for pacing interventions for ATAs in cardiac resynchronisation therapy. The pacemaker algorithms for the detection of ATAs and atrial lead configuration are crucial for the success of pacemaker-mediated prevention or interruption of ATAs. The success of these interventions is dependant on future improvements of pacemaker technology. (Neth Heart J 2008;16(Suppl1):S20-S24.).

Diagnostic tools for atrial tachyarrhythmias in implantable pacemakers: a review of technical options and pitfalls.

BACKGROUND: Correct pacemaker (PM) diagnosis of paroxysmal atrial tachyarrhythmias is crucial for their prevention and intervention with specific atrial pacing programmes. The PM mode switch to only ventricular pacing after detection of atrial tachyarrhythmias is often used as the parameter to quantify the 'burden' of atrial tachyarrhythmias. OBJECTIVES: This review addresses potential errors in the detection and diagnosis of atrial tachyarrhythmias, sometimes resulting in incorrect mode switches. The interpretation of PM-stored data of patients with atrial tachyarrhythmias and the results of trials of pace prevention and intervention can be better appreciated with more insight into the technical options and pitfalls. RESULTS: Literature and clinical experience demonstrate that the correctness of PM-derived diagnosis of atrial tachyarrhythmias depends on 1) the sensitivity setting to detect the onset and perpetuation of atrial tachyarrhythmias frequently characterised by variable and low-voltage signals, 2) the rejection of far-field R wave sensing by the atrial sense amplifier, 3) the facility for verification of mode switches by a high-quality intracardiac registration of the nonmodified atrial electrogram. The configuration of the atrial lead also contributes to the diagnostic performance of the PM. CONCLUSION: Not only pacing algorithms and diverse technical PM features but also the atrial lead configuration are currently the limiting factors to the fully reliable, automated detection and diagnosis of atrial tachyarrhythmias. If these technical shortcomings can be improved, better signal processing will result. Then atrial pacing to prevent or suppress atrial tachyarrhythmias will be more justified. (Neth Heart J 2008;16:201-10.).

Occlusion of the proximal subclavian vein complicating pacemaker lead implantation.

A set of images in which a pacemaker lead replacement procedure was complicated by occlusion of the proximal subclavian vein is presented. However, this was not detected on venography performed before the procedure. Physicians should be aware of a more proximal occlusion of the subclavian vein while replacing pacemaker leads, even in cases with seemingly normal venography.

A patient with dizziness, tachycardia and a DDDR pacemaker.

An 84-year-old female patient presented to the coronary care unit with dizziness. A DDD-R minute ventilation sensor pacemaker had been implanted eight years previously. The ECG showed an atrial and ventricular paced rhythm of 140 beats/min. After disconnecting the patient from the cardiac monitor the pacemaker rate dropped gradually to 90 beats/min. The cardiac rhythm monitoring system applies low-amplitude electrical pulses in order to measure respiration rate by transthoracic impedance (TTI) measurement. The minute ventilation pacemaker sensor is driven by the same TTI measurement for rate response. Inappropriate interference between these two systems caused a sensor-driven high pacemaker rate. The dizziness was not related to the sensor-driven high rate.

Pitfalls in cardiology: myocardial ischaemia in carbon monoxide poisoning.

Carbon monoxide poisoning is a major cause of morbidity and mortality worldwide. Immediate and proper treatment is crucial for prognosis and is merely dependent on accurate diagnosis. However, correct diagnosis can be difficult due to the aspecific symptomatology in CO poisoning. In this report a case is discussed in which a patient with accidental CO poisoning presented primarily with syncope, extensive ECG changes and elevated troponin levels. In addition, a limited review of the current literature is provided.

Pacing for conduction disturbances in Steinert's disease: a new indication for biventricular ICD?

Cardiac involvement in classical Steinert muscular dystrophy (dystrophia myotonica, MD1) is characterised by atrial arrhythmias, AV conduction disturbance, ventricular arrhythmias and heart failure. In MD1 patients complaints of fatigue and reduced exercise tolerance are well explained by the muscular weakness, but the same symptoms can be attributed to arrhythmia, atrioventricular block and heart failure. As cardiac pathology is often encountered in MD1 patients, an ECG, echocardiogram and Holter registrations should be performed on a routine basis. We report on two patients with MD1 who developed Mobitz II block as initial presentation of cardiac disease.

Reduction of the pace polarization artefact for capture detection applications by a tri-phasic stimulation pulse.

This study investigated the ability to minimize pace polarization artefacts (PPA) by adjusting the post-stimulus pulse duration of a tri-phasic stimulation pulse. Adjustment of the stimulation pulse was enabled by downloading special study software into an already implanted pacemaker. Tests were performed in a total of 296 atrial leads and 311 ventricular leads. Both chronic and acute leads were included in the study. Statistically significant differences were found in the initial PPA (without any adjustment of the stimulus pulse) between atrial and ventricular leads. In addition, significant differences were observed among various lead models with respect to changes over time in the initial ventricular PPA. Successful PPA reduction was defined as a reduction of the PPA below 0.5 mV for atrial leads and below 1 mV for ventricular leads. Results show a success rate for ventricular and atrial PPA reduction of 97.8% and 98.7%, respectively. Threshold tests showed that after reduction of the PPA loss of ventricular capture can be reliably detected. However, atrial threshold tests showed many false positive evoked response detections. In addition, unexpectedly high evoked response amplitudes were observed in the atrium after reduction of the PPA. Results from additional measurements suggest that these high atrial evoked response amplitudes come from the influence of the input filter of the pacemaker.

Recommendations for pacemaker implantation for the treatment of atrial tachyarrhythmias and resynchronisation therapy for heart failure: A report from the task force on pacemaker indications of the Dutch Working Group on Cardiac Pacing.

Today, new pacing algorithms and stimulation methods for the prevention and interruption of atrial tachyarrhythmias can be applied on patients who need bradycardia pacing for conventional reasons. In addition, biventricular pacing as additive treatment for patients with severe congestive heart failure due to ventricular systolic dysfunction and prolonged intraventricular conduction has shown to improve symptoms and reduce hospital admissions. These new pacing technologies and the optimising of the pacing programmes are complex, expensive and time-consuming. Based on many clinical studies the indications for these devices are beginning to emerge. To support the cardiologist's decision-making and to prevent waste of effort and resources, the 'ad hoc committee' has provided preliminary recommendations for implantable devices to treat atrial tachyarrhythmias and to extend the treatment of congestive heart failure respectively.

Early prediction of improvement in ejection fraction after acute myocardial infarction using low dose dobutamine echocardiography.

OBJECTIVE: To evaluate the relation between changes in ejection fraction during the first three months after acute myocardial infarction and myocardial viability. PATIENTS: Myocardial viability was assessed using low dose dobutamine echocardiography in 107 patients at mean (SD) 3 (1) days after acute myocardial infarction. Cross sectional echocardiography was repeated three months later. Left ventricular volumes and ejection fraction were determined from apical views using the Simpson biplane formula. RESULTS: In patients with viability, ejection fraction increased by 4.4 (4.3)%; in patients without viability it remained unchanged (0.04 (3.6)%; p < 0.001). A > or = 5% increase in ejection fraction was present in 21 of 107 patients (20%). Receiver operating characteristic analysis showed that myocardial viability in > or = 2 segments predicted this increase in ejection fraction with a sensitivity of 81% and a specificity of 65%. Multivariate logistic regression analysis was used to define which clinical and echocardiographic variables were related to > or = 5% improvement in ejection fraction. Myocardial viability, non-Q wave infarction, and anterior infarction all emerged as independent predictors, myocardial viability being the best (chi(2) = 14.5; p = 0.0001). Using the regression equation, the probability of > or = 5% improvement in ejection fraction for patients with a non-Q wave anterior infarct with viability was 73%, and for patients with a Q wave inferior infarct without viability, only 2%. CONCLUSIONS: Myocardial viability after acute myocardial infarction is the single best predictor of improvement in ejection fraction. In combination with infarct location and Q wave presence, the probability of > or = 5% improvement can be estimated in individual patients at the bedside.

Myocardial viability: impact on left ventricular dilatation after acute myocardial infarction.

OBJECTIVE: To evaluate whether the presence of viable myocardium, detected by low dose dobutamine echocardiography, limits the likelihood of left ventricular dilatation in patients with acute myocardial infarction. PATIENTS: 107 patients were studied by low dose dobutamine echocardiography at (mean (SD)) 3 (1) days after acute myocardial infarction. Cross sectional echocardiography was repeated three months later. Patients were divided in two groups based on the presence (n = 47) or absence (n = 60) of myocardial viability. RESULTS: Baseline characteristics were comparable between the two groups, except for infarct location. Left ventricular end diastolic volume index (EDVI) was stable in patients with viability, but end systolic volume index (ESVI) decreased significantly (p = 0.006). Patients without viability had a significant increase in both EDVI (p < 0.0001) and ESVI (p = 0.0007). Subgroup analysis in patients with small and large infarcts (peak creatine kinase < or = 1000 v > 1000 IU/l) showed that ventricular dilatation occurred only in patients with large infarcts without viability. This resulted in larger ESVI values at three months in that group compared with patients with large infarcts plus viability (p < 0.05). Multivariate regression analysis identified myocardial viability as an independent predictor of left ventricular dilatation, along with wall motion score index on low dose dobutamine echocardiography and the number of pathological Q waves. CONCLUSIONS: The presence of viability early after acute myocardial infarction is associated with preservation of left ventricular size, whereas the absence of viability results in ventricular dilatation, particularly in large infarcts.

In-hospital and long-term prognostic value of viable myocardium detected by dobutamine echocardiography early after acute myocardial infarction and its relation to indicators of left ventricular systolic dysfunction.

The prognostic value of myocardial viability early after acute myocardial infarction (AMI) is still controversial, depending on the patient under study and the outcome end point considered. Furthermore, the relative prognostic importance of viability compared with indicators of systolic left ventricular (LV) dysfunction is not known. One hundred thirty-eight patients were studied with low-dose dobutamine echocardiography 3 +/- 1 days after AMI. Patients were divided in 2 groups based on presence (n = 55) or absence (n = 83) of myocardial viability and followed up for in-hospital and late cardiac events. During hospitalization, myocardial viability was the only independent predictor for recurrent ischemic events (chi-square 5.0, p = 0.025). End-systolic volume index and ejection fraction were both independent predictors of the occurrence of heart failure, whereas gender and end-systolic volume index emerged as independent predictors of hard cardiac events (death and sustained ventricular tachycardia). After hospital discharge, patients were followed for 19 +/- 7 months. Again, myocardial viability emerged as the only independent predictor of unstable angina (chi-square 7.7, p = 0.005). Age, hypertension, and ejection fraction were the most important independent predictors of hospitalization for heart failure, whereas ejection fraction was the only independent predictor of hard cardiac events. Presence of myocardial viability early after AMI is the single best predictor of recurrent in-hospital ischemic events and unstable angina after discharge. With respect to hard cardiac events and occurrence of heart failure, indicators of LV systolic dysfunction have a higher prognostic value than presence of myocardial viability.

[The heartache of muscular dystrophy]. / Het hartzeer van een spierdystrofie.

Duchenne and Becker muscular dystrophy are caused by a mutation in the dystrophin gene, located on the short arm of the X chromosome. Three so called dystrophinopathy patients, a women aged 54 and two men aged 23 and 21 years, suffered from a severe dilated cardiomyopathy. Such a cardiomyopathy can develop in both carriers and patients. In addition, it is often more important for prognosis than muscle weakness. For these two reasons it is important to screen both groups for (early) cardiological abnormalities. If these are present, regular follow-up is necessary to start timely therapy. When cardiological investigations yield normal results, it is advised to screen carriers with a five-year interval. Dystrophinopathy patients should be checked every year, because the cardiomyopathy sometimes develops and deteriorates over a short period of time. Patients with dilated cardiomyopathy and with a positive family history for dilated cardiomyopathy, muscle weakness or high serum creatine kinase activity should be screened for a mutation in the dystrophin gene.

Pacemaker leads: performance and progress.

Pacing leads remain the "weaker link" of the permanent pacing system. Lead failure has been an issue since the beginning of implantable pacemaker therapy. Modern electronics have brought about considerable progress in pacing technology, but lead design has been slower to evolve and problems persist. IS-1 standardization must be considered a significant advance, but some issues regarding IS-1 standardization persist and have been the cause of some compatibility problems. With respect to lead insulation, silicone has proved to offer total reliability for > 30 years. In the search for better handling characteristics, polyurethane 80A was employed for bipolar leads, but it failed to demonstrate satisfactory insulating properties. New insulation materials, such as ethylene-fluoro-ethylene (ETFE), and coated wire technology look promising, having shown 99.32% survival at 5-year follow-up. Reliability is the main objective in lead design, but leads should provide low battery consumption as well. Low coil resistance, with high electrode impedance in steroid-eluting leads, is the standard at present. Low polarization is a desirable property for 2 main reasons: (1) in conjunction with low-threshold leads, it decreases battery consumption; and (2) it allows capture detection and, therefore, safer pacing at low battery consumption. Lead tip design as well as pacing pulse configuration can influence polarization.