Misleading terms in Anderson-Fabry disease.

BACKGROUND: Signs and symptoms of classic Fabry disease manifest itself on the skin (angiokeratoma), the nervous system (acroparaesthesia), the heart (restrictive cardiomyopathy) and a variety of other organs. MATERIALS AND METHODS: Diagnosis of Fabry disease was confirmed by genetic tests in a cohort of 100 patients and a standardized examination programme was performed in all patients. We were puzzled when applying well-established and textbook-anchored signs and symptoms to our patients. RESULTS: Among the 47 male and 53 female patients (mean age 41 +/- 16 years) with genetically proven disease, the Fabry-type vascular skin lesions were without hyperkeratotic aspect and keratomas were virtually absent. The peripheral neuropathic pain found in all male patients was not compatible with the wording 'acro' and 'paraesthesia', suggesting a different pathophysiological mechanism. Upon echocardiographic examination, patients mainly revealed diastolic relaxation abnormalities of the heart and only one patient had a restrictive cardiac pattern. CONCLUSIONS: Our findings suggest that some terms used to describe signs and symptoms of Fabry disease are historically derived and do not comply with state-of-the-art examination. We propose to replace the term 'angiokeratoma' with 'angioma', the term 'acroparaesthesia' with 'neuropathic pain' and the term 'restrictive cardiomyopathy' with 'cardiac hypertrophic storage disease'. As most of the physicians are not familiar with Fabry disease, terms used in the past might prevent the correct diagnosis of a potentially treatable disease.

A novel perfusion catheter for hybrid procedures in minimally invasive bypass surgery.

BACKGROUND: Combined off-pump bypass grafting and percutaneous coronary intervention (hybrid procedures) is supposed to be beneficial for high-risk patients. We developed a novel perfusion catheter to facilitate these hybrid interventions. METHODS: First, we tested coagulatory activation in vitro. Afterwards, 6 landrace pigs underwent active coronary perfusion of the LAD. In a second study, 15 pigs underwent off-pump bypass surgery (LIMA to LAD grafting) and the catheter was used to provide myocardial perfusion and prevent bleeding at the site of the coronary anastomosis. RESULTS: In the in vitro perfusion studies, no activation of coagulation or clotting occurred. Active coronary perfusion was feasible without signs of regional myocardial ischemia or coagulation over a 50-minute period. During off-pump bypass surgery, the catheter prevented bleeding in the operation field and facilitated the surgical procedure. CONCLUSION: The new perfusion catheter can optimize the conditions of off-pump bypass surgery by preventing bleeding in the operation field, maintaining myocardial perfusion and allowing direct angiographic control of the anastomosis. Therefore, this new technique could be an important tool to facilitate hybrid interventions.

Doppler myocardial imaging in the assessment of normal and ischemic myocardial function--past, present and future.

Myocardial ischemia is associated with impaired regional myocardial function. Echocardiography is a suitable technique for the assessment of regional myocardial function as it is easily applicable and commonly available. However, most of the currently used echo-techniques are based on 2D images or M-mode traces. Therefore, they are limited either to the assessment of myocardial segments that can be insonated at 90 degrees or are based on visually assessed wall motion scoring which is semiquantitative at best. Doppler myocardial imaging (DMI) is a new ultrasound technique which assesses the velocity of myocardial motion. Different parameters can be derived from this velocity information such as velocity time integrals, intramural velocity gradients and strain/strain-rate information. Moreover, DMI provides information of the timing of regional motion related to myocardial contraction and relaxation. These parameters are all assessed quantitatively, therefore, DMI is a promising technique to quantify myocardial function, avoiding the disadvantages of observer-dependant judgement of myocardial contraction.

Persistence of the eustachian valve in secundum atrial septal defects: possible implications for cerebral embolism and transcatheter closure procedures.

Transcatheter closure of large secundum atrial septal defects is now accepted clinical practice. With the introduction of easily applicable closure devices the indications for this procedure have been expanded to include the closure of patent foramen ovale after cerebral stroke of unknown origin. In some of these patients a persistent eustachian valve is present. The clinical relevance of this finding is still unclear. A 36 year old patient with a brainstem stroke of unknown origin and a secundum atrial septal defect in combination with a persisting prominent eustachian valve is reported. The potential role of the eustachian valve in the genesis of the stroke and the difficulties during transcatheter closure of the defect because of the persisting valve are discussed.

Doppler myocardial imaging in the assessment of regional myocardial function in longitudinal direction pre- and post-PTCA.

AIMS: Doppler myocardial imaging is potentially a sensitive tool to assess regional myocardial velocities pre- and post-percutaneous transluminal coronary angioplasty (PTCA) as a marker of contractility to evaluate short- to medium-term information on functional myocardial recovery following the release of ischaemia. METHODS: Thirty patients with single vessel disease were studied to assess regional myocardial peak systolic velocity, systolic velocity time integral and mitral valve plane excursion in longitudinal direction one day pre-, one day post- and 3 months post-PTCA. The patients were assigned to group A with coronary stenoses >70% and group B with stenoses < 70%. RESULTS: In group A pre-PTCA the ischaemic segments showed a significantly lower peak systolic velocity and velocity time integral compared with the values one day after PTCA (5.8 +/- 1.4 vs 7.7 +/- 1.4cm.s(-1); 1.06 +/- 0.22 vs 1.23 +/-0.28cm;P< 0.03). In contrast, mitral valve plane excursion in this group remained unchanged after PTCA for both the ischaemic and non-ischaemic left ventricular wall. In group B no changes of these parameters and no differences in mitral valve plane excursion of the ischaemic and the non-ischaemic left ventricular wall could be seen. CONCLUSION: With Doppler myocardial imaging it was possible to quantify a number of indices which changed due to the successful release of ischaemia.

A comparison of regional myocardial velocity information derived by pulsed and color Doppler techniques: an in vitro and in vivo study.

The objective was to compare velocity information derived from either a tissue mimicking phantom or normal contracting myocardium by both pulsed wave and color Doppler myocardial imaging (PWDMI and CDMI). Both CDMI and PWDMI allow quantitative assessment of regional myocardial contraction and relaxation velocities, but their potential clinical applications have not yet been investigated. Moreover, no information is available as to whether they can be used interchangeably for regional velocity assessment. For the in vitro study, a rotating, circular-shaped, tissue-mimicking sponge driven by a motor at speeds of 15, 30, 60, 90 rpm was used to derive velocity data from the same eight points of interest by using PWDMI or CDMI techniques. For the in vivo study, 25 normal subjects were examined at rest using parasternal and apical approaches. Velocity profiles were derived from the same 26 areas of interest (18 left ventricular segments, 3 right ventricular segments, and 5 measurement points for the tricuspid and mitral annuli) for each technique. Peak maximal velocities were detected by PWDMI and peak mean velocities were measured using CDMI. The results of the in vitro study phantom showed excellent correlation (r = 0.99, P < 0. 001) and satisfactory agreement (0.04 cm/sec; 3.3 cm/sec) between both Doppler techniques. PWDMI velocities were higher than CDMI velocities by up to 20% and overestimated the real velocity value (0. 37 +/- 0.29 cm/sec) while CDMI underestimated predicted velocity by 1.35 +/- 0.36 cm/sec. Good correlation (r = 0.87, P < 0.001), but poor agreement (-2.1 cm/sec; 5.4 cm/sec) was shown in vivo for all segments with regard to peak systolic and diastolic velocities. Both Doppler techniques cannot be used interchangeably for comparing peak velocities in the clinical situation. However, with adequate temporal resolution, they can be used interchangeably for velocity profile recording and for timing of events.

The effect of pacing-induced heart rate variation on longitudinal and circumferential regional myocardial function after acute beta-blockade--a cardiac ultrasound study.

AIMS: To evaluate the effect of acute beta-blockade in combination with differing heart rates on longitudinal and circumferential regional myocardial function using Doppler myocardial imaging and two-dimensional-echocardiography. METHODS AND RESULTS: In seven pigs the following echocardiographic indices were measured at baseline, after beta-blockade both without and with atrial pacing: wall thickening fraction, fractional shortening, myocardial peak systolic velocity, transmyocardial velocity gradient and systolic velocity time integral of the posterolateral wall in short-axis view; mitral valve plane excursion, myocardial peak systolic velocity and systolic velocity time integral of the posterolateral wall in an apical five-chamber view. Peak systolic velocities and velocity gradients decreased significantly following acute beta-blockade but no further decay occurred at high heart rate due to pacing. The velocity time integrals and mitral valve plane excursion showed a tendency to decrease following beta-blockade but only after pacing were they significantly reduced. The wall thickening fraction and fractional shortening showed a significant reduction after beta-blockade but no further decay after pacing. CONCLUSION: Changes in systolic velocities and velocity gradients were independent of heart rate reduction under high dosage beta-blockade, whereas wall thickening fraction, mitral valve plane excursion and velocity time integrals changed due to pacing.

How accurate is visual assessment of synchronicity in myocardial motion? An In vitro study with computer-simulated regional delay in myocardial motion: clinical implications for rest and stress echocardiography studies.

Asynchronicity in echocardiographic images is normally assessed visually. No prior quantitative studies have determined the limitations of this approach. To quantify visual recognition of myocardial asynchronicity in echocardiographic images, computer-simulated delay phantom loops were generated from a 3.3 MHz digital image data from a normal left ventricular short-axis heart cycle acquired at 55 frames per second. Six expert observers visually assessed 30 abnormal and 3 normal loops with differing computer-induced delay patterns on 3 occasions and in this optimally simulated environment could recognize only single delays of 89 ms or more. This was improved to 71 ms or more by use of side-by-side (normal versus abnormal) comparative review. Thus visual assessment of clinically important regional delay in rest or stress echo images is limited.

Anatomic M-mode echocardiography: A new approach to assess regional myocardial function--A comparative in vivo and in vitro study of both fundamental and second harmonic imaging modes.

OBJECTIVE: To evaluate the accuracy of anatomic M-mode echocardiography (AMM). METHODS: Eight phantoms were rotated on a device at different insonation depths (IDs) in a water beaker. They were insonated with different transducer frequencies in fundamental imaging (FI) and second harmonic imaging (SHI), and the diameters were assessed with conventional M-mode echocardiography (CMM) and AMM with the applied angle correction (AC) after rotation. In addition, left ventricular wall dimensions were measured with CMM and AMM in FI and SHI in 10 volunteers. RESULTS: AC had the greatest effect on the measurement error in AMM followed by ID (AC: R2 = 0. 295, ID: R2 = 0.268; P <.0001). SHI improved the accuracy, and a difference no longer existed between CMM and AMM with an AC up to 60 degrees. In vivo the limit of agreement between AMM and CMM was -1.7 to +1.8 mm in SHI. CONCLUSION: Within its limitations (AC < 60 degrees; ID < 20 cm), AMM could be a robust tool in clinical practice.