Prenatal diagnosis of 20p13 microdeletion syndrome

ObjectiveThe objective of this study was to report the first case of prenatal diagnosis of the fetal 20p13 microdeletion syndrome in the literature.Case reportThe mother was 31 years old and had a first trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound at 23 weeks of gestation showed mild ventriculomegaly (10.2 mm) and absent septum pellucidum. She underwent amniocentesis because of the abnormal imaging results. Karyotype analysis revealed normal results. Chromosome microarray analysis (CMA) was then performed to provide genetic analysis of the fetus and parents. CMA detected 317.902 kb deletion of 20p13 in fetus. Finally, pregnancy was terminated at 32 weeks of gestation.ConclusionThis study is the first to report the prenatal diagnosis of a 20p13 microdeletion syndrome. Our results further confirmed that genes in this region, including SOX12, NRSN2 are essential for normal fetal growth and TBC1D20 for normal brain development.     

Lipid profile of patients with aortic stenosis might be predictive of rate of progression

Background

Aortic stenosis is one of the most commonly encountered valvular pathology requiring surgery in developed countries. There are similarities between risk factors for coronary atherosclerosis and the development of aortic stenosis. We designed a retrospective study, evaluated the lipid profile and previous echocardiographic recordings of patients with aortic stenosis, and searched the association of rate of progression and lipid profile.

Methods and results

The annual rates of progression in the peak and mean aortic gradients were 8.5 ± 3.2 and 6.7 ± 2.2 mm Hg/year, respectively. We classified the annual rate of progression of peak aortic gradient into 2 groups, group 1 with <10 mm Hg (“slow progressors”) and group 2 with ≥10 mm Hg annual rate of progression (“fast progressors”). The annual rate of progression in group 1 was significantly higher than that in group 2, both in peak and mean aortic gradients (12 ± 2 mm Hg and 6.4 ± 1.6 mm Hg; 9 ± 1.3 mm Hg and 5.2 ± 1.1 mmHg; P <.001 for both). There was a highly significant difference between group 1 and group 2 for total cholesterol/high-density lipoprotein (HDL) cholesterol level ratio (7.1 ± 1.4 vs 5.2 ± 1.3, P <.001). There was a significant correlation between annual rate of progression in peak gradient and total cholesterol/HDL cholesterol level ratio (r = 0.399, P = .009). Smoking (P = .024, Beta = 0.26), presence of coronary heart disease (P = .011, Beta = 0.31), and total cholesterol/HDL cholesterol level ratio (P = .004, Beta = 1.98) were independently predictive of fast progression of the peak aortic gradient in the regression analysis.

Conclusion

In a small group of patients from Turkey with aortic stenosis, there seems to be an association between the rate of progression and total cholesterol/HDL cholesterol level ratio, with fast progression occurring in the group with higher ratios.     

Percutaneous transhepatic venoplasty: an alternative treatment for Budd-Chiari syndrome.

BACKGROUND/AIMS: In patients with Budd-Chiari syndrome due to short segment hepatic vein stenosis where percutaenous transluminal venoplasty is not successful, percutaneous transhepatic balloon venoplasty may be a valid treatment option. The aim of this prospective study was to evaluate the effects of this procedure for the treatment of patients with Budd-Chiari syndrome, in whom transluminal cannulation was unsuccessful. METHODS: Ten patients with short segment occlusion of the hepatic veins were treated by percutaneous transhepatic balloon venoplasty between January 1997 and January 2000. The median follow-up period of these patients was 20 months (2-33 months). RESULTS: The procedure was unsuccessful in two patients. Eight patients (five men, three women) with a median age of 28 (range, 15-61) years were treated by percutaneous transhepatic balloon venoplasty and in seven of them, clinical symptoms including abdominal distension and ascites, resolved completely. Long term anticoagulation therapy was not given to the patients. One patient with advanced stage liver disease died of variceal bleeding two months after the procedure. During follow-up, symptomatic reocclusion requiring dilatation occurred in three patients. CONCLUSIONS: Percutaneous transhepatic balloon venoplasty is an alternative treatment option for selected patients with Budd-Chiari syndrome when transluminal cannulation of the hepatic veins is not possible. Long term anticoagulation therapy seems to be necessary in these patients.     

Effects of P-wave dispersion on atrial fibrillation in patients with acute anterior wall myocardial infarction

Backround: P‐wave dispersion (P dispersion), defined as the difference between the maximum and the minimum P‐wave duration (P minimum), and maximum P‐wave duration (P maximum) have been used to evaluate the discontinuous propagation of sinus impulse and the prolongation of atrial conduction time respectively. The aim of this study was to investigate whether early assessment of P dispersion predicts paroxysmal atrial fibrillation (AF) in patients with acute anterior wall myocardial infarction (MI). Methods: We prospectively evaluated 147 consecutive patients (45 women, 102 men; aged 55 ± 9 years) with a first acute anterior wall MI. All patients were evaluated by echocardiography to measure the left atrial diameter and left ventricular ejection fraction (LVEF). Electrocardiography was recorded from all patients on admission and every day during hospitalization. Results: AF occurred in 25 patients. In 122 patients, AF did not occur. P maximum was found to be significantly higher in patients with AF than in patients without AF (115 ± 17.3 ms vs 101 ± 14.7 ms, P = 0.001 ). P dispersion also was significantly higher in patients with AF than in patients without AF (50 ± 12.5 ms vs 43 ± 10.1 ms, P = 0.01 ). There was no significant difference between the two groups in P minimum (64 ± 12.5 ms vs 59 ± 11.7 ms, P = 0.057 ). The echocardiographically left atrial diameters were not significantly higher in the patients with AF than those without (25 ± 3.38 mm and 23 ± 3.36 mm , respectively, P = 0.76 ). LVEF was found to be significantly different in the patients who developed AF and in those who did not (37.96 ± 6.18% vs 47.70 ± 6.01%, P = 0.0001 ). Conclusions: Although P maximum and P dispersion are significant predictive factors of AF in patients with acute anterior wall MI in the univariate analysis, on the basis of multivariate analysis, only age and LVEF were independent predictive parameters for AF.     

Are Reciprocal Changes a Consequence of “Ischemia at a Distance” or Merely a Benign Electrical Phenomenon? A Pulsed‐Wave Tissue Doppler Echocardiographic Study

Objectives: The aim of the present study was to investigate whether ST segment depression in precordial leads at the time of acute inferior myocardial infarction represents a reciprocal change rather than concurrent anterior wall ischemia on the surface electrocardiography. Background: The mechanism of reciprocal ST segment depression during acute myocardial infarction is controversial. “Ischemia at a distance” or a benign electrical phenomenon has been implicated in numerous reports. Pulsed‐wave tissue Doppler (PWTD) echocardiography can be used to examine the regional diastolic motion of the left ventricular myocardial wall and may allow the detection of ischemic segments. Methods: We evaluated regional myocardial ischemia using PWTD echocardiography in 48 patients with a first inferior wall myocardial infarction. The left ventricle was divided into 16 segments. PWTD echocardiographic velocities were obtained from each left ventricular segments. Results: Reciprocal ST segment depression was present in 35 patients (Group 1) but not in the remaining 13 patients (Group 2). There were no significant differences between groups 1 and 2 with respect to systolic (S) (7.4 ± 1.1 vs 6.8 ± 0.9 cm/s; P > 0.05), early (E) (10.5 ± 2 vs 9.4 ± 1.2 cm/s; P > 0.05), and late (A) (9.5 ± 3.2 vs 8.5 ± 2.3 cm/s; P > 0.05) diastolic waves peak velocities, E/A ratio 1.1 ± 0.2 vs 1.1 ± 0.1; P > 0.05), Ewave deceleration time (DT) (92 ± 17 vs 101 ± 16 ms; P > 0.05) and regional relaxation time (RT) (82 ± 19 vs 93 ± 21 ms; P > 0.05) in anterior wall (basal levels), which correspond to reciprocal ST segment depression on electrocardiography. According to E/A ratio detected by PWTD echocardiography in anterior wall and anterior septum, patients with reciprocal ST segment depression were also divided into two groups: Group A, with E/A ratio > 1; Group B, with E/A ratio < 1. Among the 35 patients with reciprocal ST segment depression, anterior wall ischemia was present in 10 patients and absent in 25 patients, whereas anterior septal ischemia was present 12 patients and absent in 23 patients. Conclusions: Reciprocal ST segment depression during the early phases of inferior infarction is an electrical reflection of primary ST segment elevation in the area of infarction.