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Biomedical subjects

Mauro Santarone

Publications and source records attributed to Mauro Santarone.

5 recordsLinked to original sources

Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A.

A 50-year-old women with Charcot-Marie-Tooth hereditary neuropathy type 1A due to the PMP22 duplication on chromosome 17p11.2-12 developed a left bundle branch block and progressive dilatation of the left ventricle since age 40 years and recurrent heart failure since age 44 years. At age 50 years left ventricular hypertrabeculation/noncompaction was first recognized on transthoracic echocardiography. A possible causal relation between the cardiac abnormalities and the PMP22 duplication is discussed.

Bundle-Branch Block↗

Echocardiography in atrial fibrillation.

Atrial fibrillation is the most commonly encountered sustained arrhythmia. Echocardiography has augmented the knowledge about etiology and complications of atrial fibrillation. Transthoracic echocardiography allows rapid, safe and comprehensive assessment of cardiac structure and function, and is recommended for all subjects with atrial fibrillation. The use of transesophageal echocardiography has contributed to a better understanding of the thromboembolic risk in patients with atrial fibrillation, especially in the setting of electrical cardioversion. Several investigators have demonstrated the feasibility and safety profile of early cardioversion with short-term anticoagulation in patients with atrial fibrillation and a transesophageal echocardiography negative for atrial thrombi. More recently, transesophageal and intracardiac echocardiography have been employed in patients with atrial fibrillation to monitor percutaneous procedures such as pulmonary veins radiofrequency ablation or left atrial appendage obliteration. In this review the available echocardiographic imaging modalities and their specific role in the evaluation and management in atrial fibrillation are described.

Atrial Fibrillation↗

Efficacy of tilt training in the treatment of neurally mediated syncope. A randomized study.

Recurrent neurally mediated syncope represents a common clinical event and a therapeutic challenge. Recently tilt training has been proposed for the treatment of recurrent neurally mediated syncope. To evaluate the efficacy of tilt training in preventing tilt-induced syncope and its feasibility, this controlled, randomized study was undertaken. Sixty-eight consenting patients (25 males and 43 females, mean age 40 +/- 19) with recurrent neurally mediated syncope and 2 consecutive positive nitroglycerin-potentiated head-up tilt tests were randomized to tilt training (35 patients) or no treatment (controls, 33 patients). The tilt training programme consisted of daily 30-min sessions of upright standing against a vertical wall 6 days a week for at least 3 weeks, until a reevaluation tilt test (3 patients of both groups dropped out). On this third head-up tilt test, 19 (59%) of 32 tilt trained patients and 18 (60%) of 30 controls still had a positive test. Treated patients performed a mean number of 15 +/- 7 sessions (median 16) and only 11 patients (34%) did all the programmed sessions. Only 1 patient (3%) discontinued treatment because of intolerance, while all other patients did not perform tilt training adequately, because of poor compliance. Thus, in our study tilt training was not effective in reducing tilt testing positivity rate in patients with neurally mediated syncope. Because of poor compliance, tilt training appears to be a feasible treatment only for highly motivated patients, but not for the majority of patients with recurrent neurally mediated syncope.

Adult↗

Prognostic value of electrocardiograms, ventricular late potentials, ventricular arrhythmias, and left ventricular systolic dysfunction in patients with Duchenne muscular dystrophy.

Myocardial involvement is a common finding in patients with Duchenne-type muscular dystrophy (DMD). Nevertheless, the prognostic values of standard electrocardiogram (ECG), ventricular arrhythmias, ventricular late potentials (LPs), and left ventricular (LV) systolic dysfunction have not been extensively investigated. Eighty-four patients with DMD (aged 18.6 +/- 4.8 years) underwent standard and signal-averaged electrocardiography, 24-hour Holter monitoring, and echocardiography. The prevalence of electrocardiographic abnormalities, frequent ventricular premature complexes, LPs, and LV systolic dysfunction was 71%, 32%, 28%, and 35%, respectively. Median follow-up was 76 months (range 5 to 106). The mortality rate in the follow-up period was 27%. The typical DMD electrocardiographic alterations, ventricular arrhythmic pattern, and LPs were not predictors of mortality. In contrast, the presence of LV systolic dysfunction detected on echocardiography was a powerful predictor of mortality in the follow-up period (p = 0.013, hazard ratio 3.14, 95% confidence interval 1.27 to 7.79). Thus, echocardiographic assessment of LV systolic dysfunction provides prognostic information in patients with DMD. Electrocardiographic alterations, ventricular arrhythmias, and LPs have no prognostic value in predicting mortality in these patients.

Adolescent↗