Jesus Vargas-Barron

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.

C.A. Vazquez-Antona, J.R. Erdmenger, R. Viesca-Lobaton, F.J. Roldan, J.A. Garcia-Montes, A. Romero, J. Vargas-Barron; 886 Three-dimensional (3D) echocardiograp

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.

This study was performed to determine the safety and efficacy of intravenous dodecafluoropentane emulsion (Echo Gen), to determine the efficacy and duration of contrast agent in left cavities by transthoracic echocardiography and to evaluate the clinical impact of Echogen. Fifteen patients were studied, by transthoracic echocardiography. Duration of contrast intensity of left ventricular cavity opacification and endocardial border definition were studied. The adverse effects were assessed immediately, 24 hours and 7 days after Echogen. Both the vital signs and electrocardiogram did not show any significant changes. Minimal changes in hepatic function in one patient and in renal function in other one were observed. The mean duration of left ventricular opacification was 4 minutes 47 seconds and full or intermediate opacification was more frequently observed after Echogen. Endocardial border delineation was poor in one patient, intermediate in five and excellent in nine. In 86.7% the diagnostic information obtained was sufficiently and allowed other studies. This study demonstrates that Echogen is effective for Left ventricular cavity opacification, endocardial border definition and assessment of left ventricular volume and ejection fraction 2) The obtained information with the use of Echogen allowed other studies. 3) The intravenous administration of Echogen is safe in doses of 0.05 ml/Kg.

Aortic intramural hematoma or atypical aortic dissection is an aortic dissection without intimal tear nor flow communication and it may be the first step of a typical dissection. We describe five cases, in which transesophageal echocardiography detected intramural hematoma of the aorta. Transesophageal echocardiography is a safe, accurate and specific method that allows bedside diagnosis as well as follow-up of patients with hematoma of the aorta.

Echocardiographic studies have demonstrated a high prevalence of valvular disease in patients with primary antiphospholipid syndrome (PAPS). However, there are no studies assessing changes over time in valvular abnormalities. We conducted a study to determine whether there are changes over time in valvular lesions as detected by serial transesophageal echocardiography (TEE). Twelve patients with a first TEE had a second evaluation after a mean period of 13.5 months. There were 10 women and two men with a mean age of 38 years. Two patients had normal TEE on both initial and follow-up studies. Ten patients (83%) had valvular abnormalities, predominantly of the mitral and aortic valves in both studies. Abnormalities consisted of thickening, nodules, regurgitation, regurgitation and stenosis, and calcification. The type and frequency of lesions changed over time. As an example, one mitral valve nodule disappeared on follow up but three new aortic nodules developed even though all patients were receiving anticoagulant therapy. Two patients with mitral and aortic nodules presented cerebral ischemia. Mitral valvuloplasty was performed in one case. These results show that valvular abnormalities in patients with PAPS resolve, appear, or persist irrespective of anticoagulant therapy. Regurgitation is often mild or moderate, but stenosis may appear.