A Misclassification of Pulmonary Stenosis Using Conventional Echocardiographic Methods.

BACKGROUND: The classification of pulmonary stenosis (PS) severity based on the transpulmonary pressure gradient, which is affected by flow rate. CASE REPORT: We report the first case of a pregnant patient with atrial septal defect (ASD) and pulmonary stenosis that was misclassified by conventional echocardiographic methods. Most importantly, three-dimensional transoesophageal echocardiographic assessment of pulmonary stenosis changed the entire treatment strategy. CONCLUSION: The planimetric calculation of the pulmonary valve (PV) opening area using three-dimensional transoesophageal echocardiographic may be helpful, especially in encounters with specialized conditions such as ASD and/or pregnancy, which can cause inaccurate recordings of the transvalvular peak gradient.

Surgical Reconstruction of Peripheral Pulmonary Arteries: Strategies, Outcomes, and New Classification.

BACKGROUND: Pulmonary artery stenosis (PAS) is classified as central (types 1 and 2) and peripheral (type 3 affects proximal part of lobar arteries, type 4 affects proximal part of segmental arteries, and type 5 affects distal part of segmental arteries). In this study, we examine the outcomes of surgical reconstruction of peripheral PAS. METHODS: We reviewed 31 patients with peripheral PAS who underwent surgical repair. Median age was 30 months. Patients with intact ventricular septum (24 patients) presented with severe right ventricular dilation and dysfunction and mean right ventricular to left ventricular pressure (RVSP/LVSP) ratio was 0.96 ± 0.25, 1.14 ± 0.23, and 1.43 ± 0.07 for types 3, 4, and 5, respectively (p = 0.03). Pulmonary artery reconstruction was achieved in single stage in 19 patients (61%). RESULTS: Six patients (19%) had type 3, 22 patients (71%) had type 4, and 3 patients (10%) had type 5. mean number of angioplasties per patient was 18 ± 8. There was no early mortality. Mean postoperative RVSP/LVSP ratio decreased to 0.27 ± 0.08, 0.36 ± 0.05, and 0.96 ± 0.06, for types 3, 4, and 5, respectively (p < 0.001). The median follow-up was 48 months. Patients with type 3 and 4 showed marked improvement in functional status after surgery. Patients with type 5 showed clinical evidence of improved cardiac output despite modest decrease in RVSP. No surgical re-intervention was needed, while balloon dilation was performed in 1 patient with type 5 lesions. CONCLUSIONS: Surgical reconstruction of diffuse peripheral PAS is feasible and associated with excellent hemodynamic and functional outcomes in patients where there is no involvement of the distal part of segmental arteries.

Síndrome cardiofaciocutáneo, un trastorno relacionado con el síndrome de Noonan: hallazgos clínicos y moleculares en 11 pacientes / Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: Clinical and molecular findings in 11 patients

Objetivos: Describir los hallazgos clínicos y moleculares de 11 pacientes españoles con síndrome cardiofaciocutáneo (CFC), y compararlos con una serie de 130 pacientes con otros trastornos neurocardiofaciocutáneos (111 pacientes con síndrome de Noonan [SN] y 19 con síndrome LEOPARD). Pacientes y métodos: Se obtuvieron datos clínicos de los pacientes remitidos para estudio genético. Se estudiaron los genesPTPN11, SOS1, RAF1, BRAF y MAP2K1 mediante secuenciación bidireccional de los exones donde se localizan las mutaciones más recurrentes, y todos los exones del gen KRAS. Resultados: Se identificaron 6 mutaciones en BRAF en 9 pacientes, y 2 mutaciones en MAP2K1. La talla baja, el retraso psicomotor, los trastornos del lenguaje y las anomalías ectodérmicas fueron más frecuentes en el CFC que en el resto de los síndromes (p < 0,05). En al menos 2 casos el estudio genético contribuyó a reorientar el diagnóstico. Discusión: Los pacientes con CFC muestran un fenotipo más grave, si bien se describe un paciente sin retraso psicomotor, lo que ilustra la variabilidad del espectro fenotípico asociado a las mutaciones en BRAF. El estudio genético es una herramienta útil en el diagnóstico diferencial del CFC y de los trastornos relacionados con el SN (AU)

Objectives: To describe 11 patients with cardiofaciocutaneous syndrome (CFC) and compare them with 130 patients with other RAS-MAPK syndromes (111 Noonan syndrome patients [NS] and 19 patients with LEOPARD syndrome). Patients and methods: Clinical data from patients submitted for genetic analysis were collected. Bidirectional sequencing analysis of PTPN11, SOS1, RAF1, BRAF, and MAP2K1 focused on exons carrying recurrent mutations, and of all KRAS exons were performed. Results: Six different mutations in BRAF were identified in 9 patients, as well as 2 MAP2K1 mutations. Short stature, developmental delay, language difficulties and ectodermal anomalies were more frequent in CFC patients when compared with other neuro-cardio-faciocutaneous syndromes (P < .05). In at least 2 cases molecular testing helped reconsider the diagnosis. Discussion: CFC patients showed a rather severe phenotype but at least one patient with BRAF mutation showed no developmental delay, which illustrates the variability of the phenotypic spectrum caused by BRAFmutations. Molecular genetic testing is a valuable tool for differential diagnosis of CFC and NS related disorders (AU)

Intraindividual comparison of contrast-enhanced MRI and unenhanced SSFP sequences of stenotic and non-stenotic pulmonary artery diameters.

PURPOSE: To evaluate the agreement of pulmonary artery diameters assessed with 3D contrast-enhanced MR angiography (CE-MRA) and a 2D balanced steady-state-free precession sequence (bSSFP) in non-stenotic and stenotic pulmonary arteries (PA). METHODS AND MATERIALS: 44 right and left PAs (30 non-stenotic and 14 stenotic) were examined in 23 consecutive patients by performing CE-MRA as well as bSSFP. Two independent readers determined the transverse diameters of the PA. RESULTS: No significant difference in diameter measurements was found between CE-MRA and bSSFP (p = 0.8608 for the stenotic and p = 0.6208 for the non-stenotic PA). Bland-Altman analysis revealed good agreement between CE-MRA and bSSFP for both the non-stenotic (mean bias, 0.07 cm; with 95 % limits of agreement, ± 0.34 cm) and the stenotic (mean bias, 0.05 cm; with 95 % limits of agreement, ± 0.30 cm) PA. CONCLUSION: bSSFP allows rapid and accurate determination of PA diameters without the use of ionizing radiation and the risk of contrast media-associated side-effects.

[Balloon dilatation of the pulmonary valve. Short-, middle- and long-term results]. / Die Ballondilatation der Pulmonalklappe. Kurz-, mittel- und langfristige Ergebnisse.

BACKGROUND: Immediate and long-term results after balloon dilatation of pulmonary valve stenosis in our unit. METHODS AND PATIENTS: All 111 patients (1 day-18 years) who have had balloon dilatation of a pulmonary valvar stenosis between 12/1987 and 8/1997 were divided into 4 groups: Typical valvar pulmonary stenosis (group A; n = 78), stenosis with dysplastic pulmonary valve (group B; n = 10), critical pulmonary stenosis (group C; n = 16) and pulmonary atresia after transcatheter or operative opening of the valve (group D; n = 7). Patients with pulmonary stenosis and complex congenital heart disease were excluded. RESULTS: The average systolic transvalvular gradient was reduced from 68.5 to 27.2 mmHg (60%) immediately after balloon dilatation. After a follow up of 48.8 +/- 37 months 101 patients could be reevaluated. In group A (n = 69 at FU) and C (n = 16 at FU) 81% showed a systolic transvalvular gradient < 30 mmHg after one and 83% (A) respective 94% (C) after two balloon dilatations. In group B (n = 9 at FU) 44% exhibited a systolic gradient < 30 mmHg after one and 56% after two balloon dilatations. In group D (n = 7 at FU) 57% showed a systolic gradient < 30 mmHg with no further improvement by a second dilatation. Over all, 80% of our patients could be treated sufficiently by transcatheter means. The rate of major complications was 7.3% with no lasting residuals at follow up and no deaths. CONCLUSION: Balloon dilatation of the pulmonary valve is secure and effective. Best results are obtained in patients with typical pulmonary valve stenosis and in newborns and infants with critical pulmonary valve stenosis.

Pulmonary stenosis: defect-specific diagnostic accuracy of heart murmurs in children.

OBJECTIVE: To determine the accuracy of expert examination for pulmonary stenosis (PS) among children with murmur. STUDY DESIGN: Five hundred twenty-one consecutive, previously unevaluated, pediatric patients were enrolled. The investigators prospectively recorded their diagnosis and level of confidence, categorizing any PS suspected as mild or severe. After echocardiography, PS was categorized by severity with peak systolic flow velocity. Receiver operating characteristic curves described accuracy of clinical examination. RESULTS: Sixty-two patients had PS (mild, 29; moderate, 27; and severe, 6). Receiver operator characteristic curve areas were: total, 0.834 +/- 0.033; mild, 0.862 +/- 0.044; and moderate to severe, 0.809 +/- 0.046 (P =.20). Specific difficulties in discrimination of PS from small ventricular septal defect, aortic valve disease, atrial septal defect, and innocent murmur were identified. All cases of severe PS in which PS was suspected were thought possibly severe. CONCLUSIONS: Although expert clinical examination is highly accurate for distinguishing PS from non-PS cardiac murmurs in pediatric patients, it is imperfect.

Accelerated weight gain by infants with pulmonic stenosis.

Retrospectively we compared the weight gain of infants who had significant valvular pulmonic stenosis with the growth of infants who had mild pulmonic stenosis and small ventricular septal defects. Our results indicate that the infants with significant pulmonic stenosis gained weight exceptionally well in comparison with others.

[Pulmonary artery stenosis with an intact interventricular septum]. / Stenoz legochnoi arterii s intaktnoi mezhzheludochkovoi peregorodkoi.

15 hearts with pulmonary artery stenosis with an intact interventricular septum (PAS with IIVS) were studied morphologically and morphometrically. The results were evaluated separately according to the type of the defect: with a noncomplicated valvular stenosis of pulmonary artery (PA); with a combined valvular and infundibular stenosis of PA. Every of these types of PAS with IIVS has characteristic features of morphological structure and all possess common anatomical signs: constriction at one of the levels of circulation from the right ventricle to the lesser circulation, normal geometric structure of the cone and myocardial hypertrophy of the right ventricle. Leading cause of the obstruction of the right ventricle effluent part, regardless of the PAS with IIVS type, is a hypertrophy of the supraventricular crest and its parietal projection. As distinct from the defects on the conus-truncus, complex of PAS with IIVS is characterized by a normal spatial orientation of the supraventricular crest.

[Phonomechanographic evaluation of the severity of pulmonary stenosis]. / Evaluation phonomécanographique de la sévérité des rétrécissements pulmonaires.

External phonomechanographic methods allow us to obtain a fairly precise estimate of the degree of obstruction to the pulmonary outflow, whether such an obstruction is a single entity or associated with another intracardiac malformation. The greatest precision in this field is obtained with the cases of pure pulmonary stenosis. The findings on phonomechanographic investigation of 54 cases with pulmonary stenosis have been compared with the results of the haemodynamic tests (catheterisation and angiography) as well as with the anatomical findings after a surgical cure had been effected in a certain number of cases. This study has allowed us to pick out five phonomechanographic criteria of severity of pulmonary stenosis: an increased reduplication of the second sound, lenghening of the interval between the Q wave of the electrocardiogram and the maximum portion of the systolic murmur, an increase in Furuta's ratio and also in the amplitude of the jugular venous a-wave as a function of the total height t (the a/t ratio), but most especially the "corrected" Furuta ratio as a function of the length of the ejection phase of the right ventricle, as this has been shown to possess the best correlation with the right ventricular systolic pressures.