Stargardt's disease and retinitis pigmentosa: different phenotypic presentations in the same family.
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ATP-Binding Cassette Transporters↗
Biomedical subjects
C Acar
Publications and source records attributed to C Acar.
[Widening plasty of the anterior cusp in rheumatic mitral insufficiency].
UNLABELLED: The mechanism of insufficiency in rheumatic valve disease includes 1. annulus dilatation and 2. restricted leaflet motion. Aiming at improving the treatment of restriction, augmentation of the anterior mitral leaflet (AML) was achieved with a piece of autologous pericardium. METHODS: between January 1995 and December 1999, out of 274 patients refered for rheumatic mitral disease, 143 patients underwent a repair (52%), 81% of them had pure regurgitation with no stenosis. Ring annuloplasty was performed in all cases. Two techniques used for treating the restrictive componant of the regurgitation were compared in two consecutive cohort of patients: no AML augmentation (n=62) and AML augmentation (n=81). Mean age was 42 + 3 years and all preoperative variables were comparable except for the incidence of redo patients who all underwent AML extension. RESULTS: in hospital mortality was 0.7% (n=1 with AML extension) and there was one early reoperation for a pericardial patch dehiscence. After a mean follow-up of 3.2 years, there was one sudden death (no AML extension). The reoperation rate was lower with (2.5%) than without (12.9%) AML augmentation (p<0.05). Echographic study showed a lower incidence of recurrency of mitral insufficiency when AML augmentation had been performed (grade 2: 9% and grade 3: 3%) as compared to no AML augmentation (grade 2: 35% and grade 3: 14%) (p<0.05). The mitral orifice area was larger (AML augmentation: 2.2 + 0.3 cm2 vs no AML augmentation: 1.8 + 0.4 cm2). CONCLUSION: ring annuloplasty alone failed to correct rheumatic mitral insufficiency in all cases. AML augmentation improved the quality of the repair and decreased the risk of reoperation.
Adult↗
Homologous transplantation of the mitral valve: a review.
Numerous experimental studies were conducted on homologous transplantation of the mitral valve either for mitral or tricuspid valve replacement in the early '60s. The first mitral homograft in humans was performed in 1965 by Senning. Since that time, there has been a limited number of implants mainly because of technical difficulties related to the insertion of the papillary muscles. Based on principles established for mitral valve repair, a reproducible method of homograft replacement of the mitral valve was described. Following validation in animals, the technique was applied in a series of 104 patients undergoing partial or complete mitral valve replacement. Significant improvements concerned: selection of indications and contraindications, staged approach according to the extent of the lesions leading either to partial or total replacement, systematic use of prosthetic ring annuloplasty, understanding of papillary muscle anatomy allowing a rationale for a reliable attachment method. In hospital mortality was 3.8%. At 8 years, the incidences of patients free from cardiac death and from all death were 90.6% and 82% respectively. Freedom from any cardiac event (death or reoperation) was 72% at 7 years. Similarly to the aortic homograft, mitral homograft durability was decreased in younger patients. Partial homograft replacementoffered satisfactory results particularly in the case of endocarditis and enhanced the possibilities of valve repair. The limitations of the technique are: the technical difficulty which does not permit a completely standardized operation, the risk of early valve dysfunction related to valve mismatch and the risk of late deterioration mainly leading to stenosis. Homologous transplantation of the mitral valve was also applied for tricuspid valve replacement in the case of infective endocarditis or for replacement of a degenerated bioprosthesis. Satisfactory results have been reported. However due to the lack of anatomical landmarks, the implantation procedure has remained technically challenging. Thus until further progress demonstrates a clear superiority of the mitral homograft, bioprosthesis remains the gold standard for replacing the mitral or the tricuspid valve with a biological substitute.
Adult↗
Homograft replacement of the mitral valve in young recipients: mid-term results.
OBJECTIVE: Mitral homograft (MH) can represent an interesting alternative for valve replacement in the young. However, concerns have been expressed about the durability of valve allografts in children. We report our experience with MH replacement in young patients. METHODS: From 1993 to 1997, 13 young patients aged 3-25 years (mean 15+/-6 years) underwent total mitral valve (MV) replacement with a cryopreserved homograft (CH). All but one had previously undergone one or more cardiac operations. The indications were rheumatic disease (6), acute and subacute endocarditis (2), congenital heart disease (4), and systemic lupus endocarditis (1). RESULTS: No in hospital deaths are reported. Discharge echocardiogram showed a well-functioning MH in all but one patient. One patient was lost to follow-up. Follow-up ranged from 0.7 to 6.6 years (4.1+/-2.2). On follow-up two patients were doing well. Two patients died without reoperation and both had MV stenosis. Seven patients (54%) required reoperation: mean delay 4.17 years (0.7-7). In all cases, thickening, shrinking and calcification of the allograft were present. None of these seven had contributive histopathologic changes. One patient presenting recurrent MV insufficiency will require a reoperation. CONCLUSION: MV homograft is a safe and reproducible technique, but does not provide durable results and should not be used in young patients.
Adolescent↗
[The best of valvular heart disease in 2002].
For AS, besides a very thorough update by Carabello on their management, new experimental work confirms that the pathophysiology of the condition is closer to atherosclerotic and inflammatory processes than pure degeneration. Moreover this year brings a batch of long term post-operative results, one of which is an important series relating to 2194 bioprostheses followed up for 15 years. The choice of valvular substitute between 60 and 70 years old is the subject for several studies. A series of 259 re-operations for bioprosthesis deterioration allows quantification of the operative risk to which those with this substitute are subjected in case of degeneration. Finally, the strategy to adopt in a patient with an indication for aortocoronary bypass but also with a not-tight AS is discussed (abstention, decalcification, or "preventive" valvular replacement?). For aortic insufficiency (AI) some new results for the Ross operation have been published and the first publications reporting on the attempts of experimental positioning of bioprostheses via the percutaneous route in animals are appearing. As for mitral valvulopathies, MI has carved a privileged place. Much work this year relates amongst other things to functional MI in dilated cardiomyopathies with dilatation of the ring, to the natural history of mitral valvular prolapse detailed in an important series of 833 patients, and to the evolutive risk of atrial fibrillation (AF) with MI and its treatment during plasty or mitral valvular replacement procedures. Anticoagulant treatment for mechanical prostheses is the subject of much work drawn from a large German prospective study (GELIA) confirming the general tendency for alleviation of intensity in aortic especially but also mitral valvulopathies, stressing the advantages of autocontrol. Finally, the Valvulopathy Working Group of the European Society of Cardiology publishes its recommendations for asymptomatic valvulopathies, recalling the echographic criteria of dilatation and left ventricular function to be retained for operative indications, emphasising furthermore the significance of the stress test in the follow up of asymptomatic AS.
Aged↗
[An exceptional etiology of left ventricular aneurysm: type AA amyloidosis].
Left ventricular aneurysms most often occur in the course of myocardial infarction. In rare cases they can be detected when the coronary network is devoid of any lesions. The aetiology is therefore multiple and dependent on the context. One aetiology seems less exceptional and concerns idiopathic aneurysms encountered in the African population, where the role of a "debilitating condition" such as tuberculosis has been evoked. We report the case history of a young patient from Zaire with a left ventricular aneurysm discovered in association with ganglionic tuberculosis complicated by AA amyloidosis. Histological analysis allowed the aetiological diagnosis to be established. Aneurysmal dilatation of the left ventricle was reported in the presence of amyloid deposits at the intra-myocardial arteriole level, whereas the context suggested a tubercular role. In spite of the difficulty of establishing a precise aetiological diagnosis, there seems to exist a consensus for surgical management.
Adult↗
[Primary pericardial sarcoma].
We present the case of a 50 years old male revealed by a recurrent pericardial effusion. The diagnosis of malignancy was confirmed by direct biopsy. The treatment consisted in surgical excision and chemotherapy. The patient was asymptomatic 17 months after surgery.
Combined Modality Therapy↗
Aortic and pulmonary root: are their dynamics similar?
OBJECTIVES: The long-term behavior of the pulmonary autograft in the aortic position (Ross procedure) remains uncertain. Using three-dimensional (3D) sonomicrometry (200 Hz) we compared the dynamics of the aortic and pulmonary roots. METHODS: Twenty-four crystals were implanted in each aortic (eight sheep) and pulmonary roots (six sheep) at: base (3 x 2), commissures (3 x 2), sinotubular junction (3 x 2), ascending aorta (3) and pulmonary trunk (3). Under stable hemodynamic conditions, geometric changes were time-related to left ventricular pressure (LV) and aortic pressure. RESULTS: The expansion of the aortic root is twice that of the pulmonary root. During the cardiac cycle, the aortic root volume increased by 37.7 +/- 2.7% (mean +/- SEM) versus 20.9 +/- 1.0% for the pulmonary root. Both were cone-shaped at end diastole. Because expansion at commissures was twice that of the base, both roots became more cylindrical during ejection. Although both roots started to expand prior to ejection and reached maximal expansion during the first third of ejection, the commissural and sinotubular junction dynamics were different in each root. While in the aortic root, expansion at commissural and sinotubular junction levels was significantly different (63.7 +/- 3.6% versus 37.0 +/- 2.1%), in the pulmonary root, they were similar (29.0 +/- 1.3% versus 27.7 +/- 1.4%). Expansion of the three sinuses was also different (P<0.001). In the aortic root: the right expanded more than the left and more than the non-coronary sinus. In the pulmonary root: the right sinus expanded more than the anterior more than the left. CONCLUSIONS: Dynamic differences might explain the global pulmonary root dilatation when subjected to systemic pressure, particularly at the level of the sinotubular junction which might result in the autograft failure. Differences in the asymmetrical expansion of the aortic and pulmonary roots should be considered for the implantation of the pulmonary autograft in the most physiological position.
Analysis of Variance↗
A four-dimensional study of the aortic root dynamics.
OBJECTIVE: Although aortic root expansion has been well studied, its deformation and physiologic relevance remain controversial. Three-dimensional (3-D) sonomicrometry (200Hz) has made time-related 4-D study possible. METHODS: Fifteen sonomicrometric crystals were implanted into the aortic root of eight sheep at each base (three), commissures (three), sinuses of Valsalva (three), sinotubular junction (three), and ascending aorta (three). In this acute, open-chest model, the aortic root geometric deformations were time related to left ventricular and aortic pressures. RESULTS: During the cardiac cycle, aortic root volume increased by mean+/-1 standard error of the mean (SEM) 33.7+/-2.7%, with 36.7+/-3.3% occurring prior to ejection. Expansion started during isovolumic contraction at the base and commissures followed (after a delay) by the sinotubular junction. At the same time, ascending aorta area decreased (-2.6+/-0.4%). During the first third of ejection, the aortic root reached maximal expansion followed by a slow, then late rapid decrease in volume until mid-diastole. During end-diastole, the aortic root volume re-expanded by 11.3+/-2.4%, but with different dynamics at each area level. Although the base and commissural areas re-expanded, the sinotubular junction and ascending aorta areas kept decreasing. At end-diastole, the aortic root had a truncated cone shape (base area>commissures area by 51.6+/-2.0%). During systole, the root became more cylindrical (base area>commissures area by 39.2+/-2.5%) because most of the significant changes occurred at commissural level (63.7+/-3.6%). CONCLUSION: Aortic root expansion follows a precise chronology during systole and becomes more cylindrical - probably to maximize ejection. These findings might stimulate a more physiologic approach to aortic valve and aortic root surgical procedures.
Animals↗
[Blunt force rupture of the thoracic aorta and diaphragm: an unusual association].
The aim of this study was to report two cases of rupture of the right hemidiaphragm with intra-thoracic liver hernia, associated with a traumatic aortic disruption. These two lesions followed traffic accidents, and were both treated separately. Both patients had a long-term favourable progression. Association of these two lesions is particularly rare: fewer than 50 cases have been previously described in an extensive review of the literature. CT-scan seems to be particularly efficient in diagnosis, even if less efficient than other more specific explorations. The order of surgical management is guided by the physical examination, and especially by abdominal emergency.
Accidents, Traffic↗
A safer and relatively shorter method for Southern blot hybridization analysis.
The study presented here describes a Southern blot hybridization technique which is performed in a shorter time and safer than the classical one. In this study DNA was isolated from a small amount of blood sample and the probe for hybridization was prepared with (35)S by polymerase chain reaction.
Blotting, Southern↗
The mitral homograft-is it worthwhile?
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Humans↗
Molecular analysis of turkish beta-thalassemia heterozygotes with normal Hb A2 levels.
Four parents of three unrelated families who are obligatory beta-thalassemia heterozygotes and two parents with Hb Knossos are presented. In these subjects, although the red blood cell counts and red cell indices were compatible with beta-thalassemia trait, the Hb A2 values were between 1.9-2.9% of the total hemoglobin. Examination of the delta-globin gene by Southern blot, restriction endonuclease analysis, and by direct sequencing of amplified DNA revealed the presence of the (delta0) -7.2 kb Corfu type deletion, the (delta+) codon 27 (G-->T) and (delta0) IVS-I-2 (T-->C) mutations in trans or in cis with a severe beta-thalassemia allele, and the (delta0) codon 59 (-A) deletion in cis with the betaKnossos allele.
Adult↗
Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Turkey.
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DNA Mutational Analysis↗
[Partial tricuspid homograft: a new technique for tricuspid valve repair. Report of a case].
The authors report the case of a drug abuser treated successfully for fungal tricuspid endocarditis complicated by massive pulmonary embolism. Partial valvular replacement with a segment of a tricuspid homograft associated with disobliteration of a pulmonary artery was performed. Peroperative transoesophageal echocardiography showed satisfactory tricuspid valve function. The postoperative course was uneventful. After 5 months' follow-up, the patient was asymptomatic and in good general condition. Control echocardiography showed a stable operative result.
Adult↗
Regulation of the transient outward K(+) current by Ca(2+)/calmodulin-dependent protein kinases II in human atrial myocytes.
Ca(2+)/calmodulin-dependent protein kinases II (CaMKII) have important functions in regulating cardiac excitability and contractility. In the present study, we examined whether CaMKII regulated the transient outward K(+) current (I(to)) in whole-cell patch-clamped human atrial myocytes. We found that a specific CaMKII inhibitor, KN-93 (20 micromol/L), but not its inactive analog, KN-92, accelerated the inactivation of I(to) (tau(fast): 66.9+/-4.4 versus 43.0+/-4.4 ms, n=35; P<0.0001) and inhibited its maintained component (at +60 mV, 4.9+/-0.4 versus 2.8+/-0.4 pA/pF, n = 35; P<0. 0001), leading to an increase in the extent of its inactivation. Similar effects were observed by dialyzing cells with a peptide corresponding to CaMKII residues 281 to 309 or with autocamtide-2-related inhibitory peptide and by external application of the calmodulin inhibitor calmidazolium, which also suppressed the effects of KN-93. Furthermore, the phosphatase inhibitor okadaic acid (500 nmol/L) slowed I(to) inactivation, increased I(sus), and inhibited the effects of KN-93. Changes in [Ca(2+)](i) by dialyzing cells with approximately 30 nmol/L Ca(2+) or by using the fast Ca(2+) buffer BAPTA had opposite effects on I(to). In BAPTA-loaded myocytes, I(to) was less sensitive to KN-93. In myocytes from patients in chronic atrial fibrillation, characterized by a prominent I(sus), KN-93 still increased the extent of inactivation of I(to). Western blot analysis of atrial samples showed that delta-CaMKII expression was enhanced during chronic atrial fibrillation. In conclusion, CaMKII control the extent of inactivation of I(to) in human atrial myocytes, a process that could contribute to I(to) alterations observed during chronic atrial fibrillation.
Adolescent↗
Mitral valve replacement with homograft.
The technique for replacement of the mitral valve with a mitral valve homograft is described. Principles include side-by-side approximation of the papillary muscles using multiple stitches of fine monofilament suture, direct attachment of the annulus of the mitral homograft to the annulus of the patient, and support of the repair by remodeling annuloplasty ring.
Cardiac Surgical Procedures↗
The radial artery for coronary artery bypass grafting: clinical and angiographic results at five years.
OBJECTIVE: The aim of this study was to assess the long-term results of use of the radial artery as a conduit for coronary artery bypass grafting. METHODS: After revival of the technique in 1989, the radial artery was used as a conduit in 910 patients undergoing coronary artery bypass grafting. A complete follow-up was obtained for the first 102 consecutive patients from 4 to 7 years after the operation (mean 5.27 +/- 1.30 years). Fifty-nine percent of the patients were receiving calcium-channel inhibitors. An electrocardiographic stress test was obtained for 51 patients, with no contraindications found. Routine follow-up angiography was performed in 50 cases, including those of all patients with symptoms. Thus 64 radial artery and 48 left internal thoracic artery grafts were followed up from 4 to 7 years after the operation (mean 5.6 +/- 1.40 years). RESULTS: The actuarial survival was 91.6% at 5 years, and the actuarial rate of freedom from angina was 88.7% at 5 years. Four patients underwent percutaneous transluminal angioplasty during the period of follow-up, and there were no reoperations for revision of the bypass. The electrocardiographic stress test showed negative results in 73% of cases, electrocardiographic changes alone in 21%, and clinically positive results in 6%. Angiography showed that the patency rate of the radial artery grafts was 83%. The patency rate of the left internal thoracic artery grafts (n = 47) was 91%. The difference in patency could be related to the implantation sites of the grafts, mainly the circumflex artery (51%) for the radial artery grafts and almost exclusively the left anterior descending artery (94%) for the left internal thoracic artery. CONCLUSION: The use of the radial artery for coronary bypass grafting provides excellent clinical and angiographic results at 5 years. Routine use of the radial artery in combination with the left internal thoracic artery can be recommended.
Aged↗