Angel Romero Cárdenas

Transesophageal echocardiography has advantages over transthoracic technique in defining morphology of atrial structures. Even though real time three-dimensional echocardiographic imaging is a reality, the off-line reconstruction technique usually allows to obtain higher spatial resolution images. The purpose of this study was to explore the accuracy of off-line three-dimensional transesophageal echocardiography in a spectrum of atrial septal defects by comparing them with representative anatomic specimens.

Mutations of the PRKAR1A gene are an important cause of Carney complex (CC). The PRKAR1A gene encodes the type 1A regulatory subunit of cAMP-dependent protein kinase A. We have identified one mutation of PRKAR1A (553delG) in three members of the same family affected by CC. This mutation was not identified in six unaffected family members, 12 patients with sporadic cardiac myxoma and 100 non-related healthy individuals. The novel mutation (553delG) is predicted to produce a frameshift leading to a premature stop codon. RNA analysis in the index patient showed normal size transcripts in RT-PCR amplicons of several exons, but an overall tendency to lower amounts of transcripts in relation to GAPDH controls. In Western blot analyses only full-length protein was present without any evidence of truncated product. These data suggest that the mutant allele might be a null allele due to degradation of the mutant mRNA via nonsense-mediated decay.

Echocardiographic findings in six patients with obstructive intermittent dysfunction of mechanical disc prosthetic mitral valve (OIPD) are described. All with a clinical picture of gradual installation and progressive dyspnea of several weeks of evolution. TTE with Bd recordings were performed in all of them with "oriented" M mode from apical 4/C view. The findings were compared with a control group of 14 patients with normal prosthetic valves. In the group of OIDP, all patients displayed a variable delay in the opening of the prosthetic disc, registered as a "protodiastolic step" in M mode. In three patients, the dysfunction was due to a thrombus. In two, due to pannus. Three were operated. One with thrombolysis. In two, the treatment consisted of heparin and increased oral anticoagulation. None die during the acute handling of the intermittent dysfunction. Two patients died: one seven months later due to cardiac failure and the other a year later due to prosthetic rethrombosis. In patients with mechanical prosthetic valve in mitral valve position and progressive dyspnea, the presence of a variable delay in the opening of the prosthesis is diagnostic of OIDP and requires urgent handling with thrombolysis or surgery.

At the present time it is possible to obtain a great amount of hemodynamic information in noninvasive form, by means of the use of the diverse modalities of the Doppler/Echocardiography, in any type of cardiopathy. Some topics related to their clinical utility are analyzed.

Three-dimensional echocardiography (3D) has had a great development in the last few years. Its application has expanded to all groups of heart pathology, from congenital to degenerative. In a very short time it will become an important tool in the daily work of the cardiologist. 3D represents the noninvasive macroscopic pathology anatomy equivalent.

The prognostic value of some coronary risk factors related to Stress/Echocardiography was analyzed. The most important prognostic factors during an abnormal study are: presence and time of beginning, severity and extension of the myocardial ischemic changes.

The potential cardioembolic sources for ischemic stroke in patients younger than 40 years could be asymptomatic. The purpose of this study is to justify routine implementation of transesophageal echocardiography (TEE) in the study of young patients with ischemic stroke. 34 patients younger than 40 years with ischemic stroke were studied with TEE complemented with contrast study, looking for potential cardioembolic sources or intracardiac shunts. 19 patients were male and 15 female with ages between 18-40 years (average 31 years). None had cardiac signs or symptoms. Eleven anomalies were detected in 20 patients (58.8%); of these, only 3 were considered as probably coursing with cardioembolic sources: patent foramen ovale (PFO), mitral valve prolapse, and ventricular enlargement, which were found in 12 patients (35.29%). In patients with cardiovascular anomalies, we found a hypercoagulable state, associated in eight patients with PFO (four patients), two with valvular thickening, and two with valvular nodules. In patients younger than 40 years with ischemic stroke, TEE is useful in detecting direct and indirect cardiac sources of embolism, even in those patients with unsuspected cardiac disease.

Three-dimensional echocardiography represents a new era in the contemporary cardiology, because depicts the cardiac structures in their realistic forms. This information can not be obtained using a two-dimensional perspective. Although two-dimensional (2D) and M-mode echocardiography has greatly enhanced the ability to visualize the functioning heart for more than 30 years, 3D interpretative mental skills are necessary to compile the 2D slices of the complex 3D anatomy, particularly in congenital heart disease. At present, its additional morphological and functional information in surgical decision-making and the increasing number of clinical questions than can be answered justify the clinical use of this technique. In the future it will the study of "virtual" pathologic anatomy.

Pulmonary circulation time (PCT) varies under different clinical conditions. To evaluate the PCT, the persistence of contrast in both ventricles and the digital arterial saturation of oxygen with peripheral intravenous injection of microbubbles, were examined 14 patients. Groups: I normals, II left ventricular hypertrophy (EF > 50%), III with mitral stenosis and IV in congestive heart failure. In seven patients, isosorbide S/L was administered after the first injection. The transpulmonary transit in beats was 7.3 in normals, and larger in the others. The persistence of echo contrast in right chambers was 31 beats in group I, and larger in the other groups. In left chambers it was 20.6 beats in group I, and larger in others. There were no alterations with regards to peripheral arterial saturation of oxygen. AII patients with isosorbide presented shorter PCT and persistence of contrast in right chambers. There are differences in PCT among normals, patients with mitral stenosis and those with congestive heart failure. Prolonged persistence contrast in right chambers indicates abnormally slow transpulmonary transit. Patients with congestive heart failure and ventricular damage, have longer persistence of echo contrast. PCT studied with contrast is an easy means of evaluating some aspects of pulmonary circulation.