ABSTRACT
OBJECTIVES: Gated radionuclide ventriculography (RNV) may be used for the evaluation of the right ventricular function. However, the accuracy of the method should be clinically validated in patients suffering from diseases with specific pathology of the right ventricle (RV) and with possible left ventricular (LV) interaction. METHODS: Three groups of 15 patients each, diagnosed with arrhythmogenic right ventricular dysplasia (ARVD), pulmonary artery hypertension (PAH) or atrial septal defect (ASD) were compared to a group of normal subjects. The parameters for both ventricles were evaluated separately (ejection fractions: LVEF and RVEF, and intraventricular synchronism quantified as phase standard deviation: LVPSD and RVPSD) as well as the relation or interdependence of the right to left ventricle (RV/LV volume ratio, LV/RV ejection fraction and stroke volume ratios, and interventricular synchronism). All the variables as a whole were analyzed to identify groups of patients according to their functional behaviour. RESULTS: Significant differences were found between the patients and control group for the RV function while the LV function remained mostly within normal limits. When the RV function was considered, the control group and ASD patient group showed differences regarding the ARVD and PAH patients. On evaluating the RV/LV ratios, differences were found between the control group and the ASD group. In the PAH patients, LV function showed differences in relation to the rest of the groups. CONCLUSION: RNV is a reliable clinical tool to evaluate RV function in patients with RV abnormality.
Subject(s)
Arrhythmogenic Right Ventricular Dysplasia/diagnostic imaging , Heart Septal Defects, Atrial/diagnostic imaging , Hypertension, Pulmonary/diagnostic imaging , Radionuclide Ventriculography , Ventricular Dysfunction, Right/diagnostic imaging , Adolescent , Aged , Child , Female , Humans , Male , Middle Aged , Young AdultABSTRACT
Los defectos cardiacos conforman las malformaciones congénitas más frecuentes, con una incidencia que se ha estimado entre 4 y 12 por 1000 en recién nacidos vivos. Estos tienen una etiología multifactorial en la que convergen la predisposición genética y los factores ambientales. A partir de 1990 se ha relacionado este tipo de patologías con microdelección 22q11. Se determinó la frecuencia de la microdeleción 22q11 en pacientes con cardiopatía congénita no sindrómica. Se analizaron 61 pacientes con cardiopatía congénita, a partir de ADN de sangre periférica y posterior amplificación, mediante PCR multiplex del gen TUPLE1 y del STR D10S2198, visualización electroforesis en geles de agarosa y análisis densitométrico para determinar dosis génica. Se encontraron 3 pacientes con microdeleción 22q11, para una frecuencia de 4,9%. Esta microdeleción se asoció en dos de los casos a Tetralogía de Fallot y en el otro a Defecto Septal Atrial (DSA). En conclusión, la frecuencia de microdeleción 22q11 en la población analizada es de 4,9%. Dentro de los casos de Tetralogía de Fallot, la microdeleción estaba presente en el 7,4% y en los DSA corresponde al 11,1%.
Cardiac defects are the most frequent congenital malformations, with an incidence estimated between 4 and 12 per 1000 newborns. Their etiology is multifactorial and might be attributed to genetic predispositions and environmental factors. Since 1990 these types of pathologies have been associated with 22q11 microdeletion. In this study, the frequency of microdeletion 22q11 was determined in 61 patients with non-syndromic congenital heart disease. DNA was extracted from peripheral blood and TUPLE1 and STR D10S2198 genes were amplified by multiplex PCR and visualized in agarose gels. Gene content was quantified by densitometry. Three patients were found with microdeletion 22q11, representing a 4.9% frequency. This microdeletion was associated with two cases of Tetralogy of Fallot and a third case with atrial septal defect (ASD). In conclusion, the frequency for microdeletion 22q11 in the population analyzed was 4.9%. The cases that presented Teratology of Fallot had a frequency for this microdeletion of 7.4% and for ASD of 11.1%.
