Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease.

In patients with late-onset Pompe disease, we explored the role of the Cardiopulmonary Exercise Test (CPET) and the Six-Minute Walking Test (6MWT) in the assessment of exercise capacity and in the evaluation of the effects of enzyme replacement therapy (ERT). Eight patients affected by late-onset Pompe disease, followed up at the Centre for Neuromuscular Diseases and treated with ERT, underwent a baseline evaluation with a spirometry, a CPET and a 6MWT. Four of them were restudied after 36 months of treatment. Three patients showed a reduction in exercise capacity as evaluated by peak oxygen uptake (VO2) measured at the CPET and Distance Walked (DW) measured at the 6MWT (median % predicted: 67.1 [range 54.3-99.6] and 67.3 [56.6-82.6], respectively). Cardiac and respiratory limitations revealed by the CPET were correlated to peak VO2, but not to the DW. Nevertheless, percent of predicted values of peak VO2 and DW were strongly correlated (rho = 0.85, p = 0.006), and close to identity. In the longitudinal evaluation forced vital capacity decreased, while peak VO2 and DW showed a trend to a parallel improvement. We concluded that although only the CPET revealed causes of exercise limitation, which partially differed among patients, CPET and 6MWT showed a similar overall degree of exercise impairment. That held true in the longitudinal assessment during ERT, where both tests demonstrated similar small improvements, occurring despite deterioration in forced vital capacity.

Systolic anterior motion of the mitral valve. An unusual echocardiographic feature of mitral valve endocarditis.

An unusual M-mode echocardiographic feature of mitral valve endocarditis is described: systolic anterior motion of the mitral valve, likely due to mitral valve vegetations, protruding during systole into the left ventricular outflow tract. The presence of mitral valve vegetation was confirmed at operation.

Sinus arrest associated with dipyridamole infusion.

We describe a case of prolonged sinus arrest resolved by external cardiac massage following intravenous infusion of dipyridamole, during a thallium myocardial perfusion test. The arrhythmia, presumably due to an acute drug adverse effect, had not been previously described (to our knowledge) as a complication of dipyridamole stress testing.

Utility of echocardiography in the diagnosis of aortic dissection involving the ascending aorta.

We report our prospective experience with sensitivity, specificity, predictive values and efficiency of echocardiography in diagnosing AD involving the ascending aorta (type A). We studied two groups of patients with both echocardiography and aortography. Group 1 was made up by 46 consecutive patients with clinical suspicion of AD. Type A AD was confirmed in 23 cases. Group 2 was comprised of 509 adult patients who had been studied during the same period with both aortography and echocardiography (including 46 patients from group 1); prevalence of type A AD in this group was 4.9 percent. We conclude that the diagnostic usefulness of echocardiography in patients with suspected type A AD is limited by its moderate sensitivity and predictive positive value. Aortography remains the major step in diagnosis. Within these limitations, echocardiography is useful in confirmation of clinical suspicion if all three main echocardiographic signs are present (predictive positive value: 100 percent).

[Acute mitral obstruction during infectious endocarditis]. / Ostruzione mitralica acuta in corso di endocardite infettiva.

We describe a patient with mitral valve endocarditis and valve obstruction due to a large vegetation on a previously normal mitral orifice. The diagnosis was suggested before surgery by two-dimensional echocardiography. We review the clinical features of 13 previously reported patients. In view of its ominous prognosis, accurate diagnosis of acute mitral obstruction is vital. This condition requires emergency surgery.

Right-sided infective endocarditis with acquired tricuspid valve stenosis associated with transvenous pacemaker: a case report.

Five years prior to presentation, a 29-year-old woman received a transvenous pacemaker (DDD) for sick sinus syndrome and nodo-hisian pathology. After pacemaker insertion, she complained of recurrent febrile episodes. Her pacemaker related endocarditis was quite unusual for the infecting organism (a micrococcus) and for an acquired tricuspid valve stenosis. The suspected cause was confirmed at surgery.

[Diagnostic value of echocardiographic examinations in the evaluation of patients with infectious endocarditis of aortic and/or mitral valve localization]. / Utilità diagnostica dell'esame ecocardiografico nella valutazione dei pazienti con endocardite infettiva a localizzazione valvolare aortica e/o mitralica.

We estimated sensitivity, specificity, predictive value and efficiency of echocardiography in detecting vegetations and ruptured valves in patients with aortic and/or mitral valves infective endocarditis. We studied two groups of patients, in whom both high quality echocardiography examination and surgical inspection of heart valves were available. Group I: 16 patients (32 valves) with aortic and/or mitral valves endocarditis and surgical demonstration of vegetations and/or ruptured valves. In this group the prevalence of vegetations was 65.6%, the prevalence of ruptured valves was 43.7%. Group II was composed of the 16 patients of group I with endocarditis and of 93 other patients without endocarditis. In this group (139 valves) the prevalence of vegetations was 15%, the prevalence of ruptured valves was 13.6%. Echocardiographic detection of valve vegetations. Sensitivity (71.4%) was the same in group I and II. Specificity was 91% in group I and 91.5% in group II. The positive predictive value was 93.7% in group I and 60% in group II. The negative predictive value was 62.5% and 94.7% respectively. Echocardiographic detection of ruptured valves: sensitivity was 50% in I and 42% in group II. Specificity was 94.4% in group I and 99% in group II. The positive predictive value was 87.5% in group I and 89% in group II. The negative predictive value was 70.8% in group I and 91.5% in group II. The echocardiographic efficiency was higher in group II: 88.4% for vegetations and 91.3% for ruptured valves. This reflects the high specificity and the high definition of normal valves in this unselected low-risk group. The efficiency was lower in group I: 78% for vegetations and 75% for ruptured valves. This reflects the poor sensitivity and the failure of the test to identify all the vegetations or the ruptured valves in this selected high-risk group.

[Prognostic value of echocardiographic finding of valvular vegetations in patients with infectious endocarditis]. / II valore prognostico del rilievo ecocardiografico di vegetazioni valvolari in pazienti con endocardite infettiva.

42 consecutive patients with infective endocarditis on native valves, according to Pelletier and Petersdorf's criteria of definite (13 pts), probable (12 pts.) and possible (17 pts) endocarditis, were identified and prospectively followed-up with M-mode and two-dimensional echocardiography, since 1980. We compared: 1) these three groups; 2) survivors not referred for surgery versus surgical patients plus nonsurvivors; 3) patients who suffered embolic events versus those who did not; 4) patients with severe-moderate heart failure versus those with no failure or mild failure; 5) patients with aortic valve echocardiographic vegetations versus those with mitral valve vegetations. Furthermore 11 of these patients who did not undergo surgery (9 with mitral and 2 with mitro-aortic vegetations on echo) were serially followed-up with echocardiography for 6-42 months (average: 32 months). The presence of ultrasound detectable vegetations itself and their size, without considering their site, did not identify a major risk of embolization, heart failure, death or need of surgery. The site of vegetations was the only significant feature in our series. It identified a high-risk group and a relatively low-risk group. Aortic valve involvement, with echocardiographic vegetations, was related to severe or moderate heart failure (P less than 0.01), death or need of surgery (P less than 0.05). Mitral valve involvement carried on a relatively low risk. The 9 patients with mitral valve vegetations only, not referred for surgery and followed-up, did well on medical treatment and returned to work. They did not have relapses or embolization. On serial echocardiographic examinations, mitral vegetations become smaller in the long run. Two years after the acute episode, usually echocardiography did not allow identification of vegetations.