Mitral valve prolapse associated with celiac artery stenosis: a new ultrasonographic syndrome?

BACKGROUND: Celiac artery stenosis (CAS) may be caused by atherosclerotic degeneration or compression exerted by the arched ligament of the diaphragm. Mitral valve prolapse (MVP) is the most common valvular disorder. There are no reports on an association between CAS and MVP. METHODS: 1560 (41%) out of 3780 consecutive patients undergoing echocardiographic assessment of MVP, had Doppler sonography of the celiac tract to detect CAS. RESULTS: CAS was found in 57 (3.7%) subjects (23 males and 34 females) none of whom complained of symptoms related to visceral ischemia. MVP was observed in 47 (82.4%) subjects with and 118 (7.9%) without CAS (p < 0.001). The agreement between MVP and CAS was 39% (95% CI 32–49%). PSV (Peak Systolic Velocity) was the only predictor of CAS in MPV patients (OR 0.24, 95% CI 0.08–0.69) as selected in a multivariate logistic model. CONCLUSION: CAS and MVP seem to be significantly associated in patients undergoing consecutive ultrasonographic screening

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms

Background: Hyperekplexia mutations have provided much information about glycine receptor structure and function. Results: Weidentified and characterized nine new mutations. Dominant mutations resulted in spontaneous activation, whereas recessive mutations precluded surface expression. Conclusion: These data provide insight into glycine receptor activation mechanisms and surface expression determinants. Significance: The results enhance our understanding of hyperekplexia pathology and glycine receptor structure-function. © 2013 by The American Society for Biochemistry and Molecular Biology, Inc. Published in the U.S.A

Effects of Respiration on Left Ventricular Diastolic Function in Healthy Children

Pulsed Doppler echocardiographic indices of mitral valve filling were measured in 20 healthy children, between 3 and 125 years old, in order to evaluate the effects of spontaneous respiration on left ventricular diastolic filling patterns. There were significant respiratory variations in four parameters of left ventricular diastolic function: The peak early filling velocity, the ratio of early to late peak filling velocity, and the ratio of early to late diastolic velocity-time integral decreased significantly during inspiration (mean decrease 7%, P<0·05; 16%, P<0·01; and 12%, P<0·05, respectively). On the other hand there was a significant increase in late peak filling velocity with inspiration (10% increase, P<0·05). Other variables of left ventricular diastolic filling were unchanged with inspiration. These results suggest that assessment of left ventricular diastolic function in children should be standardized with regard to respiratory phases in any clinical application. (Eur Heart J 1996; 17: 453%456)Scopu

Initial Experience with Dual-Sensor Rate-Responsive Pacemakers in Children

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Subpulmonary and Subaortic Ridges in Doubly Committed Subarterial Ventricular Septal Defect: An Echocardiographic Study

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Posterior deviation of left ventricular outflow tract septal components without ventricular septal defect.

OBJECTIVE: To describe 11 patients with narrowing of the left ventricular outflow tract caused by angular posterior deviation of both the outlet septum and the upper part of trabecular septum, which was diagnosed by cross sectional echocardiography in all and confirmed by angiocardiography in seven. RESULTS: Four patients had a subaortic systolic pressure gradient ranging from 23 to 70 mm Hg by Doppler echocardiography; cardiac catheterisation showed a significant (60 and 104 mm Hg) systolic pressure gradient in two. In four cases aortic regurgitation and two tricuspid pouches were shown by Doppler echocardiography, angiocardiography, or both. Four cases had a ridge at the angulation point on echocardiographic examination. Three patients were operated on for systolic pressure gradients of the left ventricular outflow tract and one for severe aortic regurgitation. There was proliferation of collagen-rich fibrous tissue in the subendocardial region on histopathological examination of the myectomy material. A ventricular septal defect had been diagnosed previously by contrast echocardiography in one patient; thus ventricular septal defects may close spontaneously over a period of time including fetal life. A subaortic ridge was detected in one patient at follow up. CONCLUSIONS: Deviation of the outlet and trabecular septa should be considered as a cause of ventricular outflow tract obstruction even when no ventricular septal defect is present

Aort Koarktasyonu Tedavisinde Endovasküler Stentler

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Calpain-3 deficiency causes a mild muscular dystrophy in childhood

Among our 20 families with LGMD2, 10 were documented to have muscle-specific calcium-activated neutral protease 3 (calpain-3) deficiency. Consanguinity was present in all. The current ages of the index cases were between 12 and 23 years, and there were additional nine members affected. Clinically, the patients showed mild courses; none of the cases below age 30 lost autonomy so far. The dystrophy is mainly proximal and atrophic with calf enlargement and scapular wasting in some. In three cases walking was delayed. Creatine kinase levels were at least 10 times elevated. All obligate carriers had normal creatine kinase levels. Five families shared the same 551 delA frameshift mutation. In four of these families there was the same core haplotype, whereas one was distinct suggesting an independent origin. Calpain-3 deficiency in general is a mild muscular dystrophy during childhood