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PubMed2005

Cardiovascular anomalies in children and young adults with Ullrich-Turner syndrome the Erlangen experience.

BACKGROUND: Females with Ullrich-Turner syndrome (UTS) have typical clinical features such as short stature, ovarian failure, visible dysmorphic stigmata, and abnormalities in different organs such as kidney or heart. HYPOTHESIS: The aim of the present study was to analyze the distribution, prevalence, and relative risk of cardiovascular anomalies (CVA) in females with Ullrich-Turner syndrome (UTS) seen at one single center compared with that of the regional Bavarian population. METHODS: The associations between CVA and karyotype were determined. In all, 117 girls and women with UTS, aged between 3 and 43 years (median 17.4 years) were studied retrospectively. The detailed cardiologic status including echocardiography was available in all patients. The prevalences of each cardiovascular anomaly were determined. On the basis of published epidemiologic data of CVA in Bavarian children, we assessed the relative risks of each CVA. RESULTS: Thirty-five (29.9%) girls with UTS had at least one CVA. In all of these CVAs, coarctation of the aorta and bicuspid aortic valve occurred most often (18.5% each). The aortic malformations represented over two-thirds of all CVA (72.8%), whereas anomalies of the septum (8.6%), mitral valve (6.2%), pulmonary veins (4.9%), and other locations together accounted for the other third. Bicuspid aortic valve and partial anomalous pulmonary venous drainage were associated with the highest relative risk (RR) (3603 and 1293, respectively) compared with the Bavarian population. The overall RR of CVA was 48.7. Of the 117 girls and women examined, 64 (54.7%) had complete monosomy 45 X. CONCLUSIONS: Our data demonstrate that about every third female with UTS is affected with at least one CVA, mainly left sided and associated with aortic structures. Our results underline the necessity of thorough cardiologic evaluation.

Adolescent↗
PubMed1993

Biocompatibility testing of restorative materials influencing dentin and pulp.

A comparative study was carried out using 27 healthy human bicuspids that had been extracted for orthodontic reasons from adolescents 11-14 years old. A microphotometrical analysis of buccal and lingual odontoblast layer thickness was performed using the SAMBA 2000 system and the results were submitted to statistical comparison. The buccal odontoblast layer (BOL) was found to be thicker than the lingual odontoblast layer (LOL). These results were independent of age, sex, and tooth position in the dental arch. Moreover, a strong relationship existed between the layer thicknesses as linear function on a logarithmic scale. Standards for the evaluation of pulp-dentin biocompatibility are based essentially upon qualitative or semiquantitative histological criteria. A method of quantitative evaluation based upon microphotometrical measurements of the thickness of the buccal odontoblast layer, considered variable, and the lingual odontoblast layer, considered stable, was applied to coronal filling materials that had previously been tested by a classic method. Seventy bicuspids extracted from adolescents 11-14 years of age whose class-V cavities had been filled in situ with one of four restorative materials, and whole residual dentin thickness was less than 750 microns, were divided into two groups: an intermediate-term group (A) and a long-term group (B); both groups were subdivided into four experimental series as a function of test materials. A microphotometrical analysis was carried out using an automatic scanning system (SAMBA 2000) for the quantification of buccal and lingual odontoblast layer thicknesses. The results confirmed that due to the stability of the LOL thickness it may legitimately be used as reference in the study of the analogous BOL thickness.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed2006

Morphological variations in a tooth family through ontogeny in Pleurodeles waltl (Lissamphibia, Caudata).

Most nonmammalian species replace their teeth continuously (so-called polyphyodonty), which allows morphological and structural modifications to occur during ontogeny. We have chosen Pleurodeles waltl, a salamander easy to rear in the laboratory, as a model species to establish the morphological foundations necessary for future molecular approaches aiming to understand not only molecular processes involved in tooth development and replacement, but also their changes, notably during metamorphosis, that might usefully inform studies of modifications of tooth morphology during evolution. In order to determine when (in which developmental stage) and how (progressively or suddenly) tooth modifications take place during ontogeny, we concentrated our observations on a single tooth family, located at position I, closest to the symphysis on the left lower jaw. We monitored the development and replacement of the six first teeth in a large growth series ranging from 10-day-old embryos (tooth I1) to adult specimens (tooth I6), using light (LM), scanning (SEM), and transmission electron (TEM) microscopy. A timetable of the developmental and functional period is provided for the six teeth, and tooth development is compared in larvae and young adults. In P. waltl the first functional tooth is not replaced when the second generation tooth forms, in contrast to what occurs for the later generation teeth, leading to the presence of two functional teeth in a single position during the first 2 months of life. Larval tooth I1 shows dramatically different features when compared to adult tooth I6: a dividing zone has appeared between the dentin cone and the pedicel; the pulp cavity has enlarged, allowing accommodation of large blood vessels; the odontoblasts are well organized along the dentin surface; tubules have appeared in the dentin; and teeth have become bicuspidate. Most of these modifications take place progressively from one tooth generation to the next, but the change from monocuspid to bicuspid tooth occurs during the tooth I3 to tooth I4 transition at metamorphosis.

Animals↗
PubMed1990

Aortic valvuloplasty of calcific aortic stenosis with monofoil and trefoil balloon catheters: practical considerations. An evaluation of balloon design and valvular morphology relationship, derived from experimental and clinicopathological observations.

In order to evaluate the relation between balloon design (monofoil, trefoil) and valvular configuration, experimental aortic valvuloplasty was performed in four post-mortem hearts with calcific aortic stenosis of various morphology. The degree of obstruction of the aortic orifice was assessed by computed axial tomography during inflation of monofoil 15 and 19 mm and trefoil 3 x 12 mm balloon catheters. We also evaluated the hemodynamic repercussion of balloon inflation (fall in systolic aortic pressure) in four elderly patients with acquired aortic stenosis who underwent a percutaneous transluminal aortic balloon valvuloplasty, with stepwise increasing balloon sizes of 15 mm, 19 mm and 3 x 12 mm, as during our in vitro experiments, and who underwent aortic valve replacement later on. In these patients, we correlated the anatomy of the excised aortic valves with the retrospective analysis of aortic pressure curves recorded during previous valvuloplasty procedures. Our experimental and clinicopathological observations showed that the degree of obstruction of the aortic orifice in post-mortem specimens and the tolerance to balloon inflation in live patients are dependent of the valvular configuration. Although trefoil balloons have the theoretical advantage to avoid complete obstruction of the aortic orifice during inflation, we observed that in presence of a tricuspid configuration, they could be potentially more occlusive than monofoil balloons since each of the 3 individual components of the trefoil balloon occupied the intercommissural spaces while inflated. However, they offered more residual free space when inflated in aortic valves with a bicuspid configuration (i.e. congenitally bicuspid valves or tricuspid valves with one fused commissure). In our opinion, these observations are relevant, since degenerative disease of the aortic valve (i.e. tricuspid valve without commissural fusion) is now recognized as the most common etiology of aortic stenosis in the elderly.

Aged↗
PubMed1985

Septal aneurysm with associated anomalies.

A 15-year-old boy had a history of a functional systolic murmur with systolic and diastolic murmurs and radiological evidence of left ventricular hypertrophy. The angiocardiogram demonstrated an aneurysm of the membranous septum, bicuspid aortic valve, dilatation of the left subclavian artery and left common carotid artery. Echocardiography showed a holosystolic prolapse of the mitral valve with mitral insufficiency and a bicuspid aortic valve with insignificant incompetence of the aortic valve. Classical TM mode echocardiography did not show an aneurysm of the membranous septum.

Adolescent↗
PubMed2001

Valvuloplasty for aortic valve regurgitation resulting from cusp prolapse.

Three adults, 2 with tricuspid aortic valve and 1 with bicuspid valve, underwent valvuloplasty for aortic valve regurgitation resulting from cusp prolapse. Surgical procedures consisted of combined cusp plication by triangular cusp resection and subcommissural annuloplasty. Doppler echocardiography revealed trivial aortic valve regurgitation intraoperatively and less than I/IV at discharge in all cases. After mean follow-up of 15 months, 2 tricuspid aortic valve patients remain I/IV regurgitation and II/IV in the bicuspid patient. Although long-term results remain unclear, our results show that this procedure is feasible and beneficial in patients with aortic valve regurgitation due to cusp prolapse.

Adult↗
PubMed2002

Rectangular loops in inconsistent force systems: a laboratory investigation.

MATERIAL AND METHOD: [corrected] The force system delivered by the rectangular loop (R-loop) was the subject of this in-vitro investigation. The correction of a first-order irregularity was simulated in an inconsistent force system. Three types of R-loop made of 0.017" x 0.025" TMA wire but differing in length and insertion system were tested in a 3D strain gauge (Hottinger, Darmstadt, Germany). The buccal segment consisted of one molar and two bicuspids, with the first bicuspid as an active unit scheduled to be moved buccally into the dental arch. RESULTS: The first R-loop tested revealed too high a force magnitude to be recommended for clinical use. A loop connecting only two teeth and bypassing the second premolar delivered a favorable initial force of 85 cN with a drop of 20 cN per 1 mm deactivation. In order to achieve a translatory tooth movement, a buccal root torque must be bent in addition into the short horizontal leg of the R-loop. The use of a transpalatal arch is indispensable if adverse side effects are to be avoided.

Biomechanical Phenomena↗
PubMed2006

[Gene polymorphisms leading to calcified and stenotic aortic valves].

In the Caucasian world calcified and stenosed aortic valves are a common disease. Due to increasing life expectancy prevalence of aortic valve disease will increase dramatically. In order to establish alternative therapeutic approaches to valve replacement, we have to get a better understanding of the pathophysiological process and genetic determinations leading to calcified and stenotic valve disease. Exploring these genetic determinations will open new specific fields of therapeutic modulations of the disease process. In the literature, different gene polymorphisms have been characterized to develop calcifications and further stenosis of the aortic valves.Here, congestive polyvalent aortic valve abnormalities without specific genetic determinations (i. e., DiGeorge syndrome or fragile x syndrome), autosomal inherited alterations leading to congestive aortic valve disease (i. e., Williams-Beuren syndrome, Gaucher's disease, tetralogy of Fallot, genetic aberrations of chromosomes 2 and 4 as well as trisomy 18), X- and Y-chromosomal specific alterations (i. e., Turner syndrome), congestive structure-based aortic valve disease (i. e., bicuspid aortic valve with regard to hand-heart syndromes, tetracuspid aortic valve associated with DiGeorge syndrome) and genetic mutations of specific target genes (i. e., epidermal growth factor receptor, NOTCH-1, elastin, angiotensin I conversion enzyme, beta-glucocerebrosidase, interleukin-10, chemokine receptor 5, connective tissue growth factor, transforming growth factor beta1, vitamin D receptor, estrogen receptor-alpha, apolipoproteins A1, B, and E) are summarized. The roles of gene polymorphism in the development of calcified and stenosed aortic valve appear slowly in the understanding of the process leading to the valve disease and are mainly based on studies of supravalvular and bicuspid aortic valve stenoses. New molecular biological methods enabling broad gene expression analyses demonstrate the similarity in the pathophysiology of atherosclerotic vessel inflammation, bone formation/fibrosis, with the processes leading to stenosed and calcified aortic valves. Based on to-date knowledge, further analyses have to be done and will improve understanding of the pathophysiological processes with regard to the development of new therapeutic drug targets.

Aortic Valve↗
PubMed2006

Intensive care outcome of adult patients operated on for congenital heart disease.

OBJECTIVE: To describe the ICU outcome and the most frequent complications observed in adult patients operated on for a congenital heart disease. DESIGN AND SETTING: Retrospective analysis of prospectively collected data and chart review in an adult cardiovascular ICU of a university hospital. PATIENTS: 156 patients older than 15 years with congenital heart disease undergoing cardiac surgery between June 2001 and June 2005. RESULTS: According to the initial cardiac malformation, patients were divided in four groups with different operative risk based on the Euroscore: those diagnosed bicuspid aortic valve (n = 73) had a score of 5, those with tetralogy of Fallot (n = 33) 5.5, those with simple cardiac defect (n = 26) 3, and those with complex malformations (n = 24) 6. Only two patients (one with tetralogy of Fallot and one with complex malformations) died during the hospitalization (1.2%). CONCLUSION: Euroscore clearly overestimates the risk of surgery in this population of adults with congenital heart disease. Mortality and morbidity were low in those diagnosed bicuspid aortic valve, tetralogy of Fallot, or simple cardiac defect, justifying early surgery for incipient complications. Patients with complex congenital defect require prolonged ICU stay, sometimes with mechanical cardiac support, but their overall good outcome justifies these efforts.

Adolescent↗
PubMed1997

[Severe aortic valve diseases and aortic isthmus stenosis in adults. Incidence, clinical aspects and long-term results of surgical treatment].

Severe aortic valve disease is a rare complication of coarctation in adults. Between 1961 and 1990 aortic valve replacement was performed after or combined with the operation of coarctation in 24 adults (4% of entire population operated for coarctation). Bicuspid aortic valves were present in 2/3 of patients. In 10 patients (7/10 with aortic stenosis) coarctation was operated early (mean age 24 years) and aortic valve late (mean age 40 years): in 14 (10/14 with aortic regurgitation, mean age 40 years) aortic valve and coarctation were operated simultaneously (8 patients) or staged within 6 months (6 patients). Additional surgical interventions on the dilated aorta ascendens were performed in 8, mitral valve replacement in 2 and aorto-coronary bypass in 1 patients. Early mortality was 2/24 (8%) and was similar in simultaneously (1/8) and staged (1/14) operated cases: 10 year survival was lower than in an age-matched group of 72 patients with aortic valve disease of similar severity operated during the same period (70% vs 88%, p < 0.01): 6/7 late deaths were cardiac; 5/5 pts with preoperatively severely increased end-diastolic (> 199 ml/m2) and 4/4 with end-systolic (> 90 ml/m2) left ventricular volumes and 2/2 with ejection fraction < 41% died late postoperatively. Severe aortic valve disease arised in 4% of adults with coarctation or after coarctation resection. The results of valve replacement in these patients were less successful due to high late mortality in cases with severe preoperative left ventricular dilatation and/or decrease of ejection fraction. Thus, close surveillance of patients after coarctation surgery, especially those with bicuspid valves, is mandatory for early detection of valvular disease and appropriate timing of valve replacement before left ventricular function begins to deteriorate.

Adolescent↗
PubMed1988

Prevalence and characteristics of the aortic ejection sound in adults.

A survey of 1,950 phonocardiograms recorded over a 6-year period revealed 170 (9%) with a distinct aortic ejection sound. All patients were men with a mean age of 61 years (range 29 to 88). Associated clinical features were: aortic stenosis in 28%, history of systemic hypertension in 10%, history of rheumatic fever in 4% and none of these features in 58% of patients. In 141 (83%) of 170 patients the aortic ejection sound occurred simultaneously with or 0.01 second before or after the onset of the rise of the externally recorded carotid pulse. In 37 (66%) of 56 patients who had simultaneous echocardiograms and phonocardiograms recorded, the aortic ejection sound occurred at 0.01 second before or after the maximal opening point of the aortic valve leaflets. Two-dimensional echocardiography was performed in all patients and a bicuspid aortic valve was identified in 38 patients (22%). In 83 patients (49%) 3 cusps were clearly seen. In 49 patients (29%) an accurate determination was not possible. Anatomic examination of 120 consecutive aortic valves at autopsy was performed to identify possible causes of the aortic ejection sound. In 18 (15%) of autopsies fusion of 2 aortic cusps extending greater than or equal to 5 mm from the attachment to the aorta was observed. This abnormality, aortic commissural fusion, may be congenital or acquired. It is concluded that aortic ejection sounds may occur in patients without bicuspid aortic valves and in a variety of clinical conditions. A moderate degree of cuspal fusion may be the cause of the sound.

Adult↗
PubMed1990

Coronary arteries in truncus arteriosus.

The origin and distribution of the coronary arteries was described in 39 autopsy specimens of truncus arteriosus (TA). The specimens were classified according to the number and the patterns of the truncal cusps. The position of the truncal cusps was defined in relation to intracardiac structures, namely, the atrioventricular orifices. Bicuspid truncal valves were observed in 8 cases (21%), tricuspid in 22 cases (56%) and quadricuspid in 9 cases (23%). All tricuspid valves had 2 anterior and 1 posterior cusp. Great variability in the origin of the coronary arteries was observed, with a tendency for the right coronary artery to arise from the anterior right quadrant and for the left coronary artery to arise from the anterior and left quadrant. Such a tendency was observed in 50% of the bicuspid, in 59% of the tricuspid and in 66% of the quadricuspid valves. The anatomic right ventricle was always observed to be vascularized by a right coronary artery, and the anatomic left ventricle by a left coronary artery, even in cases in which there was a single coronary trunk. The anterior surface of the right ventricle was crossed by a right coronary artery in 5 cases. A single coronary artery was observed in 7 cases (18%). Embryologic considerations are offered, especially regarding the relation between the observed variability in coronary artery patterns in TA and the absence of the truncal septation.

Coronary Vessel Anomalies↗
PubMed1995

Congenital heart disease and sudden death in the young.

Sudden death is a frequent mode of fatal outcome in cardiac disease and does not exclude young people. The aim of this investigation was to establish whether and to what extent sudden death in the young may be ascribable to the substrate of underlying congenital heart disease. Among 182 young people (< or = 35 years) who died of cardiac sudden death and underwent postmortem examination, 58 (32%) had congenital heart disease. Seven showed an intrapericardial rupture of aortic dissection, in the setting of Marfan syndrome in two, isolated bicuspid aortic valve in two, and bicuspid aortic valve and isthmic coarctation in three; all exhibited equally severe degeneration of the aortic wall. Sixteen cases had conduction system anomalies, mostly bypass tracts; 15 coronary artery anomalies (three ostial valve-like stenosis, five origin from the wrong aortic sinus, and seven deep intramyocardial course); 12 hypertrophic cardiomyopathy; five postoperative congenital heart disease including scar following ventriculotomy, conduction system injury, and defects left unrepaired; and three congenital aortic valve stenosis. One third of sudden deaths in the young was ascribable to structural defects present since birth. A large spectrum of congenital heart disease involves the risk of sudden death, but most structural defects are usually not considered to be life threatening. Some of these concealed defects are potentially detectable in life by clinical imaging techniques.

Adolescent↗
PubMed1993

The progression of mild congenital aortic valve stenosis from childhood into adult life.

UNLABELLED: We studied 187 patients who presented with mild congenital aortic valve stenosis or a bicuspid aortic valve without stenosis at presentation; 63% were males. Information on all clinical events was obtained, and patients were traced to assess current clinical status. RESULTS: The median age at presentation was 2 years (range, 0-15). Additional cardiac lesions occurred in 51 patients, more commonly in patients presenting under 1 year of age (P < 0.0001). The median duration of follow-up was 10 years (range, 1-28); seven patients were lost to follow-up. Thirty-two patients progressed to require intervention (28 surgical, five balloon valvuloplasty) at a median age of 10.5 years. No patient who presented with a bicuspid aortic valve required intervention. Two patients developed endocarditis. There were eight deaths; four after surgery for aortic stenosis and four due to other cardiac lesions. There were no sudden deaths. Actuarial and hazard analysis showed that progression beyond mild stenosis was closely related to duration of follow-up. CONCLUSIONS: Congenital aortic valve stenosis is most frequently mild at presentation. Progression is related to duration of follow-up. Fewer than 20% of patients are likely to still have mild stenosis after 30 years. Follow-up into adult life is essential.

Actuarial Analysis↗
PubMed1990

Aortic valve morphology: an important in vitro determinant of proximal regurgitant jet width by Doppler color flow mapping.

In vitro and in vivo studies suggest that proximal aortic regurgitant jet width on Doppler color flow mapping predicts severity of aortic regurgitation. The influence of aortic valve morphology on proximal regurgitant jet width has not been studied. Despite equal cross-sectional area, differences in aortic valve morphology may influence regurgitant jet width and thus estimates of severity of aortic regurgitation. Aortic valve simulations representing degenerative, rheumatic and bicuspid valves as well as a circle in two cross-sectional areas (0.2 cm2 and 0.7 cm2) were placed in a flow model using two gradients (50 and 100 mm Hg) to produce simulated aortic regurgitant jets. Flow maps were obtained from parasternal and apical positions with color gain, frames per second, low velocity reject and depth held constant. The mean of three regurgitant jet widths for each shape, size and gradient were compared by three factor analysis of variance. Aortic valve morphology significantly affected regurgitant jet width in both parasternal and apical views (p = 0.0001 by analysis of variance) with bicuspid shapes producing regurgitant jet widths significantly different from all other shapes. Valve area also consistently significantly influenced proximal regurgitant jet width (p = 0.0001) in both views. Initial pressure gradient was less important. It is concluded that in an in vitro flow model aortic valve morphology introduces significant variability in the measurement of proximal regurgitant jet widths independent of orifice cross-sectional area. Estimates of severity of aortic regurgitation may therefore be influenced considerably by aortic valve morphology.

Analysis of Variance↗
PubMed1990

Surgical pathology of aortic valve disease. A study based on 602 specimens.

A consecutive series of 602 surgically excised aortic valves was evaluated by means of macroscopic and histological study. Pure aortic stenosis was diagnosed in 140 patients, pure incompetence in 254 and combined dysfunction in 208. Of the cases with pure aortic stenosis, 38% were rheumatic, 34% were calcified bicuspid valves and 23% showed dystrophic calcification. Half the patients with pure aortic regurgitation showed aortic root dilatation. Most cases of combined aortic stenosis and regurgitation were the sequelae of rheumatic fever. A male prevalence was detectable in each group (mean male: female ratio = 2.6), and was highest in infective endocarditis and aortic root dilatation. Infective endocarditis was a frequent complication of congenitally bicuspid valves. In conclusion, rheumatic disease is still a frequent cause for surgical replacement of the aortic valve. At least half the explanted aortic valves have degenerative or congenital diseases which are often the site of a superimposed infective endocarditis.

Adolescent↗
PubMed2006

Aortic valve replacement for aortic stenosis in nonagenarians.

We reviewed certain clinical and morphologic findings in 9 patients who had aortic valve replacement (AVR) for aortic stenosis (AS) when >or=90 years of age. All had AVR from February 2000 to April 2006. The aortic valve areas ranged from 0.41 to 1.00 cm2, and the transvalvular peak systolic gradients ranged from 20 to 110 mm Hg. The left ventricular ejection fractions were >or=50% in 6 of the 9 patients. The aortic valve was congenitally bicuspid in 3 patients, and the operatively excised valves in them weighed 4.20, 5.73, and 9.75 g, respectively (mean 6.56). The other 6 patients had 3-cuspid valves without commissural fusion, and the operatively excised valves in them weighed 0.43, 0.94, 1.08, 1.51, 1.98, and 4.43 g, respectively (median 1.30, mean 1.73). Coronary artery bypass grafting (CABG) was performed at the time of AVR in 8 of the patients. One patient died a day postoperatively and 2 others died 874 and 1,011 days, respectively, after operation. Two were in skilled nursing units postoperatively for several weeks. In conclusion, AS can be severe in nonagenarians and may be superimposed on a congenitally bicuspid aortic valve.

Aged, 80 and over↗
PubMed2004

The application of Kvaal's dental age calculation technique on panoramic dental radiographs.

INTRODUCTION: Literature reports on a method for dental age calculation which is based only on radiological measurements on periapical dental radiographs: the relationship between chronological age and the two-dimensional dental pulpal size was analysed by means of multiple regression analyses. The purpose of the present study was to evaluate whether this approach could be feasible and could lead to statistically sound results with adequate repeatability when applied on panoramic radiographs. MATERIALS AND METHODS: One hundred and ninety seven panoramic radiographs were collected at random from patients of whom the age ranged from 19 to 75 years. According to the reported technique, six teeth were selected on the panoramic radiograph: in the maxilla the central and lateral incisor and second bicuspid, and in the mandibula the lateral incisor, cuspid and first bicuspid. The same exclusion criteria as in the original paper were respected. Statistical analysis was carried out in order to spot significant differences between the chronological age and the calculated age. RESULTS: When the age was calculated based on measurements of all six teeth or of all three mandibular teeth, no significant differences were found between the real age and the calculated one. In all other instances using the individual teeth separately or using all three maxillary teeth statistical analysis revealed significant differences. CONCLUSION: There appears to be no significant difference between applying the original technique on standard long-cone periapical radiographs or on orthopantomograms, especially when carrying out measurements on all six selected teeth.

Adult↗