Floppy mitral valve/mitral valve prolapse and genetics.

Mitral valve prolapse (MVP) is a defect in the mitral valve where a redundancy of valve tissue is associated with a variety of clinical expressions, ranging from an isolated mild bulging of the mitral valve to a severe prolapse of the mitral valve with extensive mitral regurgitation. As the natural history and complications of MVP are not always benign, it seems essential to strive for the proper management of these patients. The identification of functionally related genes could provide helpful clues and increase the present understanding of the pathogenesis of MVP, with the ultimate goal of developing targeted therapies. The genetics of MVP can be divided into two parts: (i) Genetics in floppy mitral valve/MVP; and (ii) genetics in heritable connective tissue disorders (Marfan syndrome, polycystic kidney, etc.) associated with floppy mitral valve. Herein, the known genetic aspects of MVP are described, according to the above-mentioned scheme.

BiPAP ventilation as assistance for patients presenting with respiratory distress in the department of emergency medicine.

BACKGROUND: Noninvasive ventilatory support (NIVS) is intended to provide ventilatory assistance for a wide range of respiratory disturbances. The use of NIVS for treatment of respiratory distress may be applicable in the emergency department (ED). It may prevent endotracheal intubation and, likewise, may favorably influence the course of the patient's hospitalization, depending on the primary disease or ventilatory disturbance. OBJECTIVE: To evaluate the efficacy of bilevel positive airway pressure (BiPAP) ventilation in patients with acute respiratory distress presenting in the ED. METHODS: A prospective, uncontrolled, nonrandomized, nonblind study enrolled 30 patients. They were cooperative and hemodynamically stable, aged over 18 years, and presented with acute respiratory distress as defined by predetermined criteria. They were connected to a BiPAP machine through a face mask, using an initial pressure of 8/3 cm H(2)O, which was gradually raised to 12/7 cm H(2)O inspiratory positive airway pressure/expiratory positive airway pressure. Standard drugs, inhalation and oxygen therapies were administered as needed. The BiPAP was disconnected either upon relief of respiratory distress or on deterioration of the patient's condition. RESULTS: Of the 30 patients in the study, 19 had cardiogenic pulmonary edema, four had acute asthma, three had exacerbation of COPD, three had pneumonia and one had malignant pleural effusion. BiPAP was instituted subsequent to failure of standard therapies. Twenty-six patients were classified as responders to the BiPAP ventilation and four as nonresponders (three patients were intubated after 1 hour and one patient 24 hours, post BiPAP). The total length of stay (LOS) in the ED was 3-5 hours and the mean LOS in hospital was 4.1 +/- 1.5 days, versus 6.5 +/- 1.2 days in LOS reports of similar patients in the same hospital during 1999, who did not undergo BiPAP ventilation. No other complications were observed. CONCLUSIONS: We found BiPAP ventilation simple, safe, effective and well tolerated by patients in respiratory distress. The rate of endotracheal intubation after successful BiPAP ventilation was low. In carefully selected patients with respiratory distress, BiPAP ventilation may successfully replace endotracheal intubation.