SEARCH · PubMed Health

Results for “PULMONARY VALVE STENOSIS”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 649 records · Page 36Linked to original sources

PubMed2004

Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.

We report on PTPN11 (protein-tyrosine phosphatase, nonreceptor type 11) mutation analysis and clinical assessment in 45 patients with Noonan syndrome. Sequence analysis was performed for all of the coding exons 1-15 of PTPN11, revealing a novel 3-bp deletion mutation and 10 recurrent missense mutations in 18 patients. Clinical assessment showed that 1) the growth pattern was similar in mutation-positive and mutation-negative patients, with no significant difference in birth length [-0.6 +/- 2.2 sd (n = 10) vs. -0.6 +/- 1.4 sd (n = 21); P = 0.95], childhood height [-2.6 +/- 1.1 sd (n = 14) vs. -2.1 +/- 1.6 sd (n = 23); P = 0.28], or target height [-0.4 +/- 0.9 sd (n = 14) vs. -0.2 +/- 0.7 sd (n = 17); P = 0.52]; 2) pulmonary valve stenosis was more frequent in mutation-positive patients than in mutation-negative patients (10 of 18 vs. 6 of 27; P = 0.02), as was atrial septal defect (10 of 18 vs. 4 of 27; P = 0.005), whereas hypertrophic cardiomyopathy was present in five mutation-negative patients only; and 3) other features were grossly similar in the prevalence between mutation-positive and mutation-negative patients, but hematological abnormalities, such as bleeding diathesis and juvenile myelomonocytic leukemia, were exclusively present in mutation-positive patients (5 of 18 vs. 0 of 27; P = 0.007). The results suggest that PTPN11 mutations account for approximately 40% of Noonan syndrome patients, as has been reported previously. Furthermore, assessment of clinical features, in conjunction with data reported previously, implies that the type of cardiovascular lesions and the occurrence of hematological abnormalities are different in mutation-positive and mutation-negative patients, whereas the remaining findings are similar in the two groups of patients.

Adolescent↗

PubMed1997

Atrio-ventricular valve dysplasia in 22 newborn infants.

We retrospectively studied the experience of our institution with isolated dysplasia of one or both atrio-ventricular valves in 22 newborn infants. All patients with associated cardiac malformations were excluded. Ten patients exhibited isolated tricuspid valve dysplasia. One patient had tricuspid valve dysplasia and a dysplastic pulmonary valve. In 10 patients, both atrio-ventricular valves were affected. Finally, mitral valve dysplasia was associated with pulmonary valve stenosis in 1 case. Associated syndromes and/or chromosomal anomalies were: Down syndrome (n=2), trisomy 18 (n=1), Noonan syndrome (n=1), Marfan syndrome (n=3), Ehlers-Danlos and Cutis laxa (n=2). Mortality was 27.2% during follow-up (mean 51 months): 3 patients with chromosomal aneuploidies, 2 patients with severe neonatal Marfan syndrome and 1 with Ehlers-Danlos. Complications were: sustained supra-ventricular tachycardia in 3, neonatal staphylococcal tricuspid valve endocarditis in 1, persistent significant valvular disease in 8. In the remaining 9 survivors, the dysplasia of the atrio-ventricular valves persists with absent or mild incompetence. Beside obvious chromosomal anomalies, newborn infants with dysplastic valves should be investigated for manifestations of connective tissue disorders. This may help to identify new pleiotropic syndromes which include valvular dysplasia as one manifestation.

Aneuploidy↗

PubMed1995

[Univentricular heart with left morphology with permeable atrio-ventricular valves. Study of the bulbo-ventricular foramen with color echo-Doppler. Importance for the surgical repair].

INTRODUCTION AND OBJECTIVES: Bidimensional and color-coded Doppler echocardiography were used to study 19 patients with univentricular heart, permeable atrioventricular valves, muscular bulbo-ventricular foramen and an anterior rudimentary chamber. We evaluated the influence of the foramen upon the size of the great vessels, and in consequence the most appropriated surgical techniques. MATERIAL AND METHODS: The foramen was measured in two projections at the end of the systolic period, and its area was calculated, according to the body surface, with the formula S = pi (D1/2 x D2/2). Indexes lower than 2 cm2/m2 were considered as restrictive. We studied 19 patients that presented a mean age of 11 +/- 12 years (range 1 day-39 years). The patients were classified in two groups. Group A: patients who had transposition of the great vessels (13 cases). Group B: patients who had normal connection of the great vessels (6 cases). Each group was classified in two subgroups: subgroup 1, patients who presented a restrictive foramen, and subgroup 2, patients who presented a normal foramen. In this study, we evaluated the associated cardiac anomalies. RESULTS: Group A. Thirteen cases. The index value for the whole group was 2.47 +/- 1.18 cm2/m2. The first subgroup included 6 cases with a restrictive foramen, 2 patients presented pathology of the arch. Four patients had a pressure gradient between the ventricle and the rudimentary chamber beyond 20 mmHg. The index of this subgroup was 1.68 +/- 0.39 cm2/m2, the median was 1.7. Seven cases, with a normal foramen, were included in the second subgroup, six of them had pulmonary valve stenosis, and the other one had undergone a pulmonary artery bandage 2 months before. Only one patient had a gradient pressure at the foramen beyond 20 mmHg. The index for this second subgroup was 3.34 +/- 0.83 cm2/m2. GROUP B: Six patients with normal connection of the great vessels were included. The index was 1.56 +/- 1.17 cm2/m2. The first subgroup included 3 cases with a restrictive foramen. The index was 0.72 +/- 0.29 cm2/m2 (range 0.41-1) and the median was 0.75. Pressure gradient between the ventricle and the rudimentary chamber was greater than 20 mmHg. Three patients with a normal foramen were in the second subgroup and here, the index was under normal limits 2.4 +/- 0.52 cm2/m2 (range 2.1-3), the median was 2.1. One patient underwent a pulmonary artery bandage two months before. CONCLUSIONS: Bulbo-ventricular foramen size/body surface index may exert an influence on the size of the vessel connected to the rudimentary chamber. The index vary in a negative way with the evolution time, or in those cases with transposition of the great vessels after a pulmonary artery bandage. Whenever the foramen is restrictive, the pulmonary artery or the aorta have a smaller diameter and the pressure gradient between the ventricle and the rudimentary chamber rises.

Adolescent↗

PubMed1990

Echocardiographic appearance of pulmonary artery stenosis.

Colour flow Doppler mapping can show abnormalities of flow even when the echocardiographic image is equivocal. Routine echocardiography in two patients who were thought to have pulmonary valve stenosis and a ventricular septal defect initially appeared to be normal. Colour flow Doppler mapping, however, showed multiple flow aliasing within the pulmonary artery, approximately 1.5 cm downstream from the pulmonary valve. More detailed examination by cross sectional echocardiography showed a membrane at this level in both patients. It is possible that more cases of this uncommon anomaly will come to light with increasing use of Doppler techniques.

Adult↗

PubMed1978