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1.
Am J Med Genet A ; 182(2): 397-408, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31825148

RESUMO

The age-dependent penetrance of organ manifestations in Marfan syndrome (MFS) is not known. The aims of this follow-up study were to explore how clinical features change over a 10-year period in the same Norwegian MFS cohort. In 2003-2004, we investigated 105 adults for all manifestations in the 1996 Ghent nosology. Ten years later, we performed follow-up investigations of the survivors (n = 48) who consented. Forty-six fulfilled the revised Ghent criteria. Median age: females 51 years, range 32-80 years; males 45 years, range 30-67 years. New aortic root dilatation was detected in patients up to 70 years. Ascending aortic pathology was diagnosed in 93 versus 72% at baseline. Sixty-five percent had undergone aortic surgery compared to 39% at baseline. Pulmonary trunk mean diameter had increased significantly compared to baseline. From inclusion to follow-up, two patients (three eyes) developed ectopia lentis, four developed dural ectasia, four developed scoliosis, three developed incisional or recurrent herniae, and 14 developed hindfoot deformity. No changes were found regarding protrusio acetabuli, spontaneous pneumothorax, or striae atrophicae. The study confirms that knowledge of incidence and progression of organ manifestations throughout life is important for diagnosis, treatment, and follow-up of patients with verified or suspected MFS.


Assuntos
Aorta/fisiopatologia , Hérnia/diagnóstico , Síndrome de Marfan/epidemiologia , Escoliose/diagnóstico , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Aorta/cirurgia , Dilatação Patológica/diagnóstico , Dilatação Patológica/fisiopatologia , Ectopia do Cristalino/diagnóstico , Ectopia do Cristalino/fisiopatologia , Feminino , Seguimentos , Hérnia/fisiopatologia , Humanos , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/fisiopatologia , Pessoa de Meia-Idade , Escoliose/fisiopatologia
2.
Eur Heart J Cardiovasc Imaging ; 17(8): 835-835af, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27311822

RESUMO

Transcatheter therapies for the treatment of valve heart diseases have expanded dramatically over the last years. The new developments and improvements in devices and techniques, along with the increasing expertise of operators, have turned the catheter-based approaches for valvular disease into an established treatment option. Various imaging techniques are used during these procedures, but echocardiography plays an essential role during patient selection, intra-procedural monitoring, and post-procedure follow-up. The echocardiographic assessment of patients undergoing transcatheter interventions places demands on echocardiographers that differ from those of the routine evaluation of patients with valve disease, and there is a need for specific expertise for those working in the cath lab. In the context of the current rapid developments and growing use of transcatheter valve therapies, this document intends to update the previous recommendations and address new advancements in imaging, particularly for those involved in any stage of the treatment of patients with valvular heart diseases.


Assuntos
Ecocardiografia Tridimensional/métodos , Próteses Valvulares Cardíacas , Tomografia Computadorizada Multidetectores/métodos , Desenho de Prótese , Substituição da Valva Aórtica Transcateter/métodos , Cateterismo Cardíaco/métodos , Cateterismo Cardíaco/tendências , Ecocardiografia , Ecocardiografia Transesofagiana/métodos , Feminino , Previsões , Doenças das Valvas Cardíacas/diagnóstico por imagem , Doenças das Valvas Cardíacas/terapia , Implante de Prótese de Valva Cardíaca/métodos , Implante de Prótese de Valva Cardíaca/tendências , Humanos , Masculino , Segurança do Paciente , Seleção de Pacientes , Risco Ajustado , Sociedades Médicas , Substituição da Valva Aórtica Transcateter/tendências , Resultado do Tratamento
3.
Tidsskr Nor Laegeforen ; 132(19): 2171-4, 2012 Oct 16.
Artigo em Inglês, Norueguês | MEDLINE | ID: mdl-23076485

RESUMO

BACKGROUND: Diagnostic ultrasonography plays an important part in cardiology. New technological advances such as three-dimensional representation of the heart now make an important supplement to today's standard echocardiography. MATERIAL AND METHOD: An overview based on PubMed literature studies and the authors' own experience is provided of the opportunities three-dimensional echocardiography offers for present and future diagnosis of heart disease. RESULTS: Three-dimensional echocardiography is an important supplement to today's standard echocardiography. The best documentation is available for calculating left ventricular volume and ejection fraction and for diagnosing mitral valve disease. Theoretically, the method can also be used to advantage to assist in catheter-directed interventions and in the diagnosis of cardiomyopathies and complex congenital heart defects. INTERPRETATION: With improved technology and hence improved imaging, three-dimensional echocardiography will be an even more important supplement to today's standard echocardiography. More accurate preoperative diagnostics in connection with heart valve defects are particularly important for directing the choice of surgical procedure.


Assuntos
Ecocardiografia Tridimensional/métodos , Doenças das Valvas Cardíacas/diagnóstico por imagem , Ventrículos do Coração/diagnóstico por imagem , Volume Sistólico , Cardiologia , Ecocardiografia Tridimensional/instrumentação , Cardiopatias/diagnóstico por imagem , Humanos , Função Ventricular Esquerda
4.
J Am Soc Echocardiogr ; 25(7): 718-25, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22622107

RESUMO

BACKGROUND: The aim of this study was to investigate whether strain Doppler echocardiography before reperfusion therapy could quantify ischemic dysfunction and predict viable myocardium in acute myocardial infarction as determined by magnetic resonance imaging. METHODS: Twenty-six patients (mean age, 60 ± 12 years; seven women) with acute myocardial infarctions who underwent acute percutaneous coronary intervention were examined using strain Doppler echocardiography immediately before the procedure. Percutaneous coronary intervention was performed 296 ± 122 min after the onset of pain. Peak left ventricular systolic longitudinal strain and the duration of systolic lengthening were analyzed. Magnetic resonance imaging was performed 11 ± 5 months after therapy. Scarring exceeding 50% of the segment area was considered nonviable. RESULTS: Peak systolic strain fell gradually (becoming less negative) from normal segments to segments with transmural infarction (P < .0001), and the duration of systolic lengthening increased (P < .0001). Myocardial scarring was closely correlated with peak systolic strain (R = 0.76, P < .00001) and the duration of systolic lengthening (R = 0.88, P < .00001). There was a significant correlation between the degree of scarring and time to percutaneous coronary intervention (R = 0.40, P = .045). In segments with systolic lengthening, the improvement in strain after remodeling was significantly higher (5.5 ± 5.1%) than in segments with duration of systolic lengthening > 67% of systole (2.2 ± 3.7%) (P < .001). Receiver operating characteristic curve analyses showed that duration of systolic lengthening > 67.3% could identify nonviable myocardium (sensitivity, 90%; specificity, 94%). CONCLUSIONS: In patients with acute myocardial infarctions in the anterior wall, strain measurements can identify myocardium with nontransmural scarring. The duration of systolic lengthening is a novel, easily implemented variable that may identify ischemic but viable myocardium. Myocardial infarctions in other left ventricular regions should be investigated in future studies.


Assuntos
Angioplastia Coronária com Balão , Ecocardiografia Doppler/métodos , Técnicas de Imagem por Elasticidade/métodos , Infarto do Miocárdio/diagnóstico por imagem , Infarto do Miocárdio/cirurgia , Disfunção Ventricular Esquerda/diagnóstico por imagem , Disfunção Ventricular Esquerda/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/complicações , Projetos Piloto , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Sobrevivência de Tecidos , Resultado do Tratamento , Disfunção Ventricular Esquerda/etiologia
5.
J Cardiothorac Surg ; 6: 163, 2011 Dec 19.
Artigo em Inglês | MEDLINE | ID: mdl-22182835

RESUMO

BACKGROUND: 112 patients who received small and medium sized St. Jude Regent heart valves (19-25 mm) at 7 Scandinavian centers were studied between January 2003 and February 2005 to obtain non-invasive data regarding the hemodynamic performance at rest and during Dobutamine stress echocardiography (DSE) testing one year after surgery. MATERIAL AND METHODS: 46 woman and 66 men, aged 61.8 ± 9.7 (18-75) years, were operated on for aortic regurgitation (17), stenosis (65), or mixed dysfunction (30). Valve sizes were 19 mm (6), 21 mm (33), 23 mm (41), 25 mm (30). Two patients receiving size 27 valves were excluded from the hemodynamic evaluation. Pledgets were used in 100 patients, everted mattress in 66 and simple interrupted sutures in 21. Valve orientation varied and was dependent on the surgeons' choice. 34 patients (30.4%) underwent concomitant coronary artery surgery. RESULTS: There were two early deaths (1.8%) and three late deaths, one because of pancreatic cancer. Late events during follow-up were: non structural dysfunction (1), bleeding (2), thromboembolism (2). At one year follow up 93% of the patients were in NYHA classes 1-2 versus 47.8% preoperatively. Dobutamine stress echocardiography (DSE) was performed in a total of 66 and maximal peak stress was reached in 61 patients. During DSE testing, the following statistically significant changes took place: Heart rate increased by 73.0%, cardiac output by 85.5%, left ventriclular ejection fraction by 19.6%, and maximal mean prosthetic transvalvular gradient by 133.8%, whereas the effective orifice area index did not change. Left ventricular mass fell during one year from 215 ± 63 to 197 ± 62 g (p < 0.05). CONCLUSION: The Dobutamine test induces a substantial stress, well suitable for echocardiographic assessment of prosthesis valve function and can be performed in the majority of the patients. The changes in pressure gradients add to the hemodynamic characteristics of the various valve sizes. In our patients the St. Jude Regent valve performed satisfactory at rest and under pharmacological stress situation.


Assuntos
Insuficiência da Valva Aórtica/cirurgia , Estenose da Valva Aórtica/cirurgia , Valva Aórtica/cirurgia , Próteses Valvulares Cardíacas , Hemodinâmica/fisiologia , Adolescente , Adulto , Idoso , Insuficiência da Valva Aórtica/diagnóstico , Insuficiência da Valva Aórtica/fisiopatologia , Estenose da Valva Aórtica/diagnóstico , Estenose da Valva Aórtica/fisiopatologia , Débito Cardíaco , Ecocardiografia Doppler , Ecocardiografia sob Estresse , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Desenho de Prótese , Estudos Retrospectivos , Volume Sistólico , Resultado do Tratamento , Adulto Jovem
6.
J Am Soc Echocardiogr ; 24(11): 1253-9, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21908174

RESUMO

BACKGROUND: The purpose of this study was to investigate whether global longitudinal strain measured by two-dimensional speckle tracking echocardiography could detect incipient myocardial dysfunction in patients with chronic aortic regurgitation (AR). Disclosing left ventricular (LV) dysfunction is of decisive importance for optimal timing of surgery but challenging because of the altered loading conditions. METHODS: Forty-seven patients referred for aortic valve replacement because of chronic AR were studied, along with 31 healthy controls. Myocardial deformation as determined by longitudinal, circumferential, and radial strain was calculated using two-dimensional speckle-tracking echocardiography technique, in addition to LV volumes, dimensions, and ejection fraction. Strain values were normalized to end-diastolic volume to correct for the volume dependency of deformation. RESULTS: Global systolic longitudinal strain was significantly lower in patients with AR before surgery compared with the healthy controls (-17.5 ± 3.1% vs -22.1 ± 1.8%, P < .01), while global circumferential strain and LV ejection fraction did not differ (-21.7 ± 3.4% vs -22.6 ± 2.5%, P = .22 and 59 ± 5% vs 59 ± 6%, P = .59, respectively). However, differences between patients and controls were evident for both longitudinal and circumferential strain when normalized to end-diastolic volume (-0.09 ± 0.04 vs -0.23 ± 0.08, P < .01, and -0.11 ± 0.05 vs -0.24 ± 0.08, P < .01, respectively). In contrast to their absolute values, both normalized variables demonstrated improvement in myocardial shortening after valve replacement (P < .01). CONCLUSIONS: The study demonstrated reduced global longitudinal strain in patients with chronic AR with preserved LV ejection fractions. Global longitudinal strain might therefore disclose incipient myocardial dysfunction with a consequent potential for improved timing of aortic valve surgery.


Assuntos
Insuficiência da Valva Aórtica/diagnóstico por imagem , Insuficiência da Valva Aórtica/fisiopatologia , Ecocardiografia/métodos , Disfunção Ventricular Esquerda/diagnóstico por imagem , Adulto , Insuficiência da Valva Aórtica/cirurgia , Pressão Sanguínea/fisiologia , Procedimentos Cirúrgicos Cardíacos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Contração Miocárdica/fisiologia , Período Pós-Operatório , Volume Sistólico
7.
Am J Cardiol ; 104(4): 583-9, 2009 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-19660616

RESUMO

The study aim was to investigate ventricular function at long-term follow-up in patients operated with arterial switch for transposition of the great arteries (TGAs). Although midterm results for anatomic correction of TGA are promising, there are reported minor alterations in left ventricular (LV) function possibly indicating myocardial dysfunction. Twenty-two patients with TGAs 12.4 +/- 2.3 years old operated with arterial switch were studied by magnetic resonance imaging and echocardiography. Twenty-two age-matched healthy subjects served as controls. Myocardial deformation was described by longitudinal and circumferential shortening (measured as strain and strain rate) and ventricular torsion, measured by speckle-tracking echocardiography. Although standard measurements of global systolic LV function were normal in patients with TGAs, longitudinal shortening was decreased compared with controls. Longitudinal strain was decreased in all ventricular regions except the posterior wall and most pronounced in the apical segments. LV circumferential shortening was similar in the 2 groups. Also, in the right ventricular free wall patients displayed decreased longitudinal shortening in the mid and apical segment. Moreover, LV torsion was decreased in the TGA group. Although rotation was relatively homogenous at the apical and basal levels in controls, there was greater dispersion in rotation in the patient group, with basal rotation being greatest in the inferior wall and apical rotation being greatest in the anterior wall. In conclusion, there was slightly decreased longitudinal shortening in the 2 ventricles and decreased LV torsion in patients with TGAs, although standard measurements of global ventricular function were normal.


Assuntos
Transposição dos Grandes Vasos/fisiopatologia , Transposição dos Grandes Vasos/cirurgia , Função Ventricular Esquerda/fisiologia , Adolescente , Estudos de Casos e Controles , Criança , Estudos de Coortes , Ecocardiografia Doppler , Feminino , Humanos , Masculino , Contração Miocárdica/fisiologia , Volume Sistólico , Fatores de Tempo , Transposição dos Grandes Vasos/diagnóstico por imagem
8.
Eur J Hum Genet ; 17(10): 1222-30, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19293838

RESUMO

The prevalence of each single feature in the Ghent criteria in patients with Marfan syndrome (MFS) is not known. To elucidate this, a cross-sectional study of 105 adults with presumed MFS was carried out. All patients were examined by the same group of investigators with standardized and complete assessment of all features in the Ghent criteria. Eighty-seven (83%) fulfilled the criteria in 56 different variants. The most prevalent major criterion in Ghent-positive persons was dural ectasia (91%), followed by major genetic criterion (89%) and ectopic lenses (62 %). In 14 persons (16%), the diagnosis was dependent on the dural findings. In all, 79% fulfilled both major dural and major genetic (positive family history and/or FBN1 mutation) criteria, suggesting that most patients with MFS might be identified by investigating these criteria. A history or finding of ascending aortic disease was present in 46 patients (53%). This low prevalence might partly reflect a high number of diagnosed patients encompassing the whole spectrum of the syndrome. The study confirms the need to examine for the complete set of features in the Ghent criteria to identify all patients with MFS. The majority of persons with MFS might be identified by the combined assessment of dura mater and family history, supplemented with DNA analysis in family-negative cases. The low prevalence of ascending aortic disease might indicate better future prospects in an adult population than those traditionally considered.


Assuntos
Síndrome de Marfan/genética , Adulto , Doenças da Aorta/epidemiologia , Doenças da Aorta/patologia , Estudos de Coortes , Estudos Transversais , Dura-Máter/patologia , Feminino , Genótipo , Humanos , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/epidemiologia , Pessoa de Meia-Idade , Mutação , Fenótipo , Prevalência
9.
Ann Thorac Surg ; 87(1): 54-60, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19101268

RESUMO

BACKGROUND: The purpose of this study was to evaluate the role of intracoronary shunt during off-pump coronary artery bypass surgery. METHODS: Fifty-six patients undergoing off-pump coronary artery bypass using the left internal mammary artery to bypass the left anterior descending coronary artery were randomly assigned to have the bypass performed with intracoronary shunt or by occlusive snaring. Ischemia during grafting was monitored by tissue Doppler. Hemodynamic status and indicators of ischemia were monitored, and on-table and postoperative angiography were performed. RESULTS: In patients with retrograde filling of the left anterior descending coronary artery, ischemia did not develop, but occlusion of antegradely perfused vessels caused ischemia in 26 of 33 patients. Ischemia was reversed in 14 of 16 shunted patients, and in 3 of 17 nonshunted cases (p = 0.004). Angiography showed a trend toward improved on-table angiographic results in shunted patients. After 3 months, graft patency was 100%, but 1 patient treated without shunt required reintervention and 15 patients had new angiographic lesions, equally distributed between shunted and nonshunted patients. CONCLUSIONS: Intracoronary shunt prevents ischemia during grafting of the left anterior descending coronary artery and provides satisfactory immediate- and short-term graft patency.


Assuntos
Ponte de Artéria Coronária sem Circulação Extracorpórea/métodos , Estenose Coronária/cirurgia , Vasos Coronários/cirurgia , Complicações Intraoperatórias/prevenção & controle , Isquemia Miocárdica/prevenção & controle , Idoso , Anastomose Cirúrgica , Circulação Colateral/fisiologia , Angiografia Coronária , Estenose Coronária/diagnóstico , Ecocardiografia Transesofagiana , Feminino , Seguimentos , Sobrevivência de Enxerto , Hemodinâmica/fisiologia , Humanos , Anastomose de Artéria Torácica Interna-Coronária/efeitos adversos , Anastomose de Artéria Torácica Interna-Coronária/métodos , Masculino , Pessoa de Meia-Idade , Isquemia Miocárdica/epidemiologia , Medição de Risco , Índice de Gravidade de Doença , Resultado do Tratamento , Grau de Desobstrução Vascular/fisiologia
10.
Pediatr Cardiol ; 29(3): 597-603, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18040733

RESUMO

In patients operated with atrial switch for transposition of the great arteries (TGA), the left ventricle (LV) supports the pulmonary circulation and is thus pressure unloaded. Evaluation of LV function in this setting is of importance, as LV functional abnormalities have been documented and might contribute to development of symptoms. The ventricular contraction pattern in 14 Senning-operated TGA patients and 14 healthy controls was studied using tissue Doppler and magnetic resonance imaging. In the subpulmonary LV free wall, longitudinal strain was greater than circumferential strain (-23.6 +/- 3.6% vs. -19.1 +/- 3.2%, p = 0.002) as in the normal right ventricle (RV) (-30.7 +/- 3.3% vs. -15.8 +/- 1.3%, p < 0.001), but opposite to findings in the normal LV (-16.5 +/- 1.7% vs. -25.7 +/- 3.1%, p < 0.001). Subpulmonary strain and strain rate values were intermediate between those in the normal LV and RV. Ventricular free-wall torsion was reduced in the subpulmonary LV compared with both the normal LV (5.7 +/- 3.2 degrees vs. 16.7 +/- 5.6 degrees , p < 0.001) and RV (5.7 +/- 3.2 degrees vs. 11.4 +/- 2.6 degrees , p < 0.05). Furthermore, early diastolic filling of the subpulmonary LV differed from that of the normal LV. The subpulmonary LV displayed predominantly longitudinal shortening, as did its functional counterpart, the normal RV. However, the degree and rate of both longitudinal and circumferential shortening were intermediate between those of the normal LV and RV. This could represent a partial adaptation to the reduced pressure load. Decreased ventricular torsion and diastolic abnormalities might indicate subclinical ventricular dysfunction.


Assuntos
Transposição dos Grandes Vasos/fisiopatologia , Transposição dos Grandes Vasos/cirurgia , Disfunção Ventricular Esquerda/diagnóstico , Adolescente , Adulto , Diástole , Feminino , Átrios do Coração , Humanos , Masculino , Sístole , Função Ventricular Esquerda
11.
Circulation ; 116(14): 1532-9, 2007 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-17875972

RESUMO

BACKGROUND: Patients after repair of tetralogy of Fallot (ToF) frequently have right ventricular (RV) dysfunction and prolonged QRS duration (QRSd) and thus could be candidates for cardiac resynchronization therapy. We aimed to assess the relationship between QRSd and the timing of RV wall motion, including the RV outflow tract (RVOT), in these patients. METHODS AND RESULTS: Sixty-seven repaired ToF patients (median age, 34 years; interquartile range, 24 to 43 years) and 35 age-matched control subjects were studied by echocardiography and cardiovascular magnetic resonance (n=55 of 67 ToF patients). Time intervals of the RV cardiac cycle were measured from Doppler recordings. Long-axis M-mode recordings were acquired from the right ventricular (RV) free wall and RV outflow tract (RVOT), and the delay in onset of long-axis shortening was measured. ToF patients showed minor abnormalities of the RV cardiac cycle unrelated to QRSd. RV ejection time was prolonged and correspondingly filling time was reduced compared with control subjects (22.3+/-2.6 versus 20.0+/-2.9 s/min, P<0.0001; 29.0+/-3.8 versus 32.7+/-3.5 s/min, P<0.0001). Total isovolumic time was normal in ToF patients (8.7+/-4.0 versus 7.4+/-2.9 s/min; P=NS). QRSd correlated with the delay in RV free wall motion (r=0.55, P<0.0001) and more so with the delay in RVOT shortening (r=0.82, P<0.0001). QRSd also correlated with measures of RVOT abnormality such as long-axis RVOT excursion and akinetic area length (r=-0.46, P=0.004; r=0.33, P=0.01). CONCLUSIONS: QRSd in postoperative ToF patients reflects mainly abnormalities of the RVOT rather than the RV body itself. Thus, prevention and treatment of mechanical asynchrony and malignant arrhythmia should focus on the RV infundibulum. Indications for cardiac resynchronization therapy after ToF repair warrant further investigation.


Assuntos
Bloqueio de Ramo/diagnóstico , Bloqueio de Ramo/fisiopatologia , Eletrocardiografia , Tetralogia de Fallot/fisiopatologia , Função Ventricular Direita/fisiologia , Adulto , Bloqueio de Ramo/terapia , Estimulação Cardíaca Artificial , Ecocardiografia/normas , Sistema de Condução Cardíaco/fisiopatologia , Sistema de Condução Cardíaco/cirurgia , Humanos , Imageamento por Ressonância Magnética/normas , Contração Miocárdica , Estudos Prospectivos , Reprodutibilidade dos Testes , Tetralogia de Fallot/diagnóstico por imagem , Tetralogia de Fallot/cirurgia
12.
Am J Med Genet A ; 143A(17): 1968-77, 2007 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-17663468

RESUMO

In monogenic disorders, correlation between genotype and phenotype is a premise for predicting prognosis in affected patients. Predictive genetic testing may enable prophylaxis and promote clinical follow-up. Although Marfan syndrome (MFS) is known as a monogenic disorder, according to the present diagnostic criteria a mutation in the gene FBN1 is not sufficient for the diagnosis, which also depends on the presence of a number of clinical, radiological, and other findings. The fact that MFS patient cohorts only infrequently have been examined for all relevant phenotypic manifestations may have contributed to inconsistent reports of genotype-phenotype correlations. In the Norwegian Study of Marfan syndrome, all participants were examined for all findings contained in the Ghent nosology by the same investigators. Mutation identification was carried out by robot-assisted direct sequencing of the entire FBN1 coding sequence and MLPA analysis. A total of 46 mutations were identified in 44 unrelated patients, all fulfilling Ghent criteria. Although no statistically significant correlation could be obtained, the data indicate associations between missense or splice site mutations and ocular manifestations. While mutations in TGF-domains were associated with the fulfillment of few major criteria, severe affection was indicated in two cases with C-terminal mutations. Intrafamilial phenotypic variation among carriers of the same mutation, suggesting the influence of epigenetic facors, complicates genetic counseling. The usefulness of predictive genetic testing in FBN1 mutations requires further investigation.


Assuntos
Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Proteínas dos Microfilamentos/genética , Fenótipo , Adulto , Idoso , Feminino , Fibrilina-1 , Fibrilinas , Variação Genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Noruega , Valor Preditivo dos Testes
13.
Ann Thorac Surg ; 84(3): 801-7, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17720379

RESUMO

BACKGROUND: Intraoperative quality assessment in coronary artery bypass surgery confirms graft patency and enables revision of failing grafts. The aim of this study was to evaluate graft quality intraoperatively by epicardial ultrasonography and to compare this technique with transit time flow measurements and intraoperative angiography, and to evaluate the ability of these methods to predict long-term patency as described by follow-up angiography. METHODS: Thirty-nine patients with mean age of 66 years (SD 9.5) who underwent off-pump coronary artery bypass surgery with internal mammary artery graft to the left anterior descending coronary artery were included. Epicardial ultrasonography and transit time flow measurement were performed after completion of the anastomoses, and coronary angiography after closure of the chest. Follow-up angiography was carried out after 156 days (SD 50). RESULTS: Diameter measurements obtained by epicardial ultrasonography correlated poorly with the same diameter measurements obtained by angiography. Epicardial ultrasonography revealed 5 abnormal grafts (13%), transit time flow measurements none, and intraoperative angiography 9 (23%). At follow-up angiography, 4 grafts (11%) were pathologic. Epicardial ultrasonography and transit time flow measurements indicated no need for graft revision; intraoperative angiography suggested need for revision in 3 cases. CONCLUSIONS: Epicardial ultrasonography could be a useful method for intraoperative assessment of graft anastomosis quality, but needs to demonstrate its ability to predict grafts in need of revision. Angiography must be considered the gold standard in intraoperative imaging.


Assuntos
Anastomose Cirúrgica , Ponte de Artéria Coronária sem Circulação Extracorpórea/métodos , Monitorização Intraoperatória/métodos , Pericárdio/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Angiografia Coronária , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Ultrassonografia , Grau de Desobstrução Vascular
14.
J Am Coll Cardiol ; 49(25): 2450-6, 2007 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-17599609

RESUMO

OBJECTIVES: The aim of the present study was to characterize the contraction pattern of the systemic right ventricle (RV). BACKGROUND: Reduced longitudinal function of the systemic RV compared with the normal RV has been interpreted as ventricular dysfunction. However, longitudinal shortening represents only one aspect of myocardial deformation, and changes in contraction in other dimensions have not previously been described. METHODS: Fourteen Senning-operated patients age 18.4 +/- 0.9 years (mean +/- SD) with transposition of the great arteries were studied. We compared the contraction pattern of the systemic RV with findings in the RV and left ventricle (LV) of normal subjects (n = 14) using tissue Doppler imaging and magnetic resonance imaging. RESULTS: In the systemic RV free wall, circumferential strain exceeded longitudinal strain (-23.3 +/- 3.4% vs. -15.0 +/- 3.0%, p < 0.001) as was also the case in the normal LV (-25.7 +/- 3.1% vs. -16.5 +/- 1.7%, p < 0.001), opposite from the findings in the normal RV (-15.8 +/- 1.3% vs. -30.7 +/- 3.3%, p < 0.001). Strain in the interventricular septum did not differ from normal. Ventricular torsion was essentially absent in the systemic RV (0.3 +/- 1.8 degrees ), in contrast to a torsion of 16.7 +/- 4.8 degrees in the normal LV (p < 0.001). CONCLUSIONS: In the systemic RV as in the normal LV, there was predominant circumferential over longitudinal free wall shortening, opposite from findings in the normal RV. This may represent an adaptive response to the systemic load. Noticeably, however, the systemic RV did not display torsion as found in the normal LV.


Assuntos
Contração Miocárdica/fisiologia , Transposição dos Grandes Vasos/cirurgia , Disfunção Ventricular Direita/diagnóstico , Função Ventricular Direita/fisiologia , Adolescente , Procedimentos Cirúrgicos Cardíacos/métodos , Estudos de Casos e Controles , Ecocardiografia Doppler , Teste de Esforço , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Probabilidade , Valores de Referência , Índice de Gravidade de Doença , Anormalidade Torcional , Transposição dos Grandes Vasos/fisiopatologia
15.
J Am Coll Cardiol ; 47(8): 1672-82, 2006 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-16631008

RESUMO

OBJECTIVES: The aim of the study was to compare the ability of the tissue Doppler echocardiographic imaging (TDI) modalities velocity, strain, and displacement to quantify systolic myocardial function. BACKGROUND: Several TDI modalities may be used to quantify regional myocardial function, but it is not clear how the different modalities should be applied. METHODS: In 10 anesthetized dogs we measured left ventricular pressure, longitudinal myocardial velocity, strain, and displacement by TDI at baseline and during left anterior descending coronary artery (LAD) stenosis and occlusion. Reference methods were segmental shortening by sonomicrometry and segmental work. In 10 patients with acute anterior wall infarction (LAD occlusion) and 15 control subjects, velocity, strain, and displacement measurements were performed. RESULTS: In the animal study, systolic strain correlated well with segmental shortening (r = 0.96, p < 0.01) and work (r = 0.90, p < 0.01), and differentiated well between non-ischemic (-13.5 +/- 3.2% [mean +/- SD]), moderately ischemic (-6.5 +/- 2.8%), and severely ischemic myocardium (7.1 +/- 13.2%). The ratio post-systolic strain/total strain also differentiated well between levels of ischemia. Displacement and ejection velocity had weaker correlations with segmental shortening (r = 0.92 and r = 0.74, respectively) and regional work (r = 0.85 and r = 0.69), and there was marked overlap between values at baseline and at different levels of ischemia. In the human study, systolic strain differentiated well between infarcted and normal myocardium (1.0 +/- 5.0% vs. -17.8 +/- 3.8%), whereas systolic displacement (-0.3 +/- 1.3 mm vs. -2.3 +/- 0.6 mm) and ejection velocity (0.9 +/- 0.6 cm/s vs. 2.2 +/- 0.6 cm/s) showed overlap. In the infarction group, strain was reduced in segments with infarcted tissue, while systolic velocity and displacement were reduced in all segments and did not reflect the extension of the infarct. CONCLUSIONS: Strain was superior to velocity and displacement for quantification of regional myocardial function. Provided technical limitations can be solved, strain Doppler is the preferred TDI modality for assessing function in ischemic myocardium.


Assuntos
Ecocardiografia Doppler , Coração/fisiopatologia , Isquemia Miocárdica/diagnóstico por imagem , Isquemia Miocárdica/fisiopatologia , Índice de Gravidade de Doença , Doença Aguda , Animais , Estudos de Casos e Controles , Cães , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Contração Miocárdica , Estresse Mecânico , Sístole , Fatores de Tempo
16.
Ann Thorac Surg ; 78(6): 2193-5, 2004 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-15561076

RESUMO

Complete surgical closure of coronary artery fistulas may be difficult because of complex anatomy and often multiple sites of origin. This study therefore assessed whether intraoperative fistula imaging would contribute to and improve the final surgical result. Seven adult patients underwent operation for coronary arteriovenous fistula during a 10-year period. In all 4 patients who had image guidance, the operation was guided by immediate imaging to achieve complete and persistent closure. In contrast, 2 of 3 patients who underwent operation without image guidance had residual left-to-right shunts at follow-up. Image guidance was helpful and increased the success rate of surgical closure of coronary artery fistulas.


Assuntos
Fístula Artério-Arterial/cirurgia , Angiografia Coronária , Doença das Coronárias/cirurgia , Cuidados Intraoperatórios , Adulto , Idoso , Procedimentos Cirúrgicos Cardíacos/métodos , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade
17.
J Am Soc Echocardiogr ; 17(12): 1225-33, 2004 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-15562259

RESUMO

BACKGROUND AND OBJECTIVES: Detection of myocardial ischemia in humans by strain Doppler and tissue velocity imaging was validated in a novel, experimentally designed study model during coronary bypass operation of the beating heart. METHODS: Assessment of ischemia was made with an opened chest and pericardium inherent in the operative procedure. Longitudinal strain and tissue velocity of interventricular septal regions were measured by transesophageal echocardiography during occlusion of the left anterior descending coronary artery (LAD). RESULTS: Unexpectedly, baseline velocities demonstrated that the apical and basal septum moved toward each other during systole. This occurred when the apex was dislodged from the pericardial sac to obtain access to the LAD, without any change in strain. The preceding motion of all septal regions toward the apex was reestablished after the heart was repositioned within the pericardium. In 16 patients with antegrade LAD flow, strain Doppler detected ischemia during LAD occlusion by disclosing systolic lengthening of the apical septum ( P <.01) and reduced shortening of the mid septum ( P <.05). The location and degree of ischemic changes coincided with the concomitant deterioration of wall motion. Tissue velocity changed in the basal and mid septum ( P <.05) but not in the apical region, explained by tethering effects and the distinctive motion pattern at baseline. There was no evidence of ischemia by invasive hemodynamic measures. In 7 patients with retrograde LAD flow, there were no significant changes in strain or tissue velocity measurements during LAD occlusion. CONCLUSIONS: Strain by Doppler is a sensitive means for detecting myocardial ischemia, also capable of correctly localizing the ischemia, as opposed to tissue velocity assessment. However, velocity measurements provided new physiological information by disclosing the normal longitudinal motion of the heart to be dependent on the pericardial sac enveloping the apex, irrespective of the structural integrity of the pericardium.


Assuntos
Débito Cardíaco/fisiologia , Ponte de Artéria Coronária sem Circulação Extracorpórea , Ecocardiografia Doppler em Cores/métodos , Contração Miocárdica/fisiologia , Isquemia Miocárdica/diagnóstico por imagem , Função Ventricular , Idoso , Diástole/fisiologia , Ecocardiografia Transesofagiana , Feminino , Ventrículos do Coração/diagnóstico por imagem , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Pessoa de Meia-Idade , Isquemia Miocárdica/fisiopatologia , Sístole/fisiologia
18.
Tidsskr Nor Laegeforen ; 124(3): 346-9, 2004 Feb 05.
Artigo em Norueguês | MEDLINE | ID: mdl-14963509

RESUMO

New applications and further development of current methods have contributed to the increasing importance of ultrasound diagnostics in cardiology. Quantitative assessment of regional myocardial function has been made possible by tissue Doppler, which is of particular importance in coronary artery disease. Visualisation and functional assessment of the left ventricle can be improved by contrast echocardiography when conventional imaging is unsatisfactory. Intravascular ultrasound has provided important information on coronary atherosclerosis and thus contributed significantly to the development of percutaneous coronary interventions. Percutaneous interventional treatment for arrhythmias, valve stenoses and septal defects can be guided by intracardiac echocardiography. Three-dimensional echocardiography may add important information to two-dimensional findings, with significant potential for clinical use, particularly in congenital heart disease and acquired valve disease.


Assuntos
Ecocardiografia/métodos , Cardiopatias/diagnóstico por imagem , Doença das Coronárias/diagnóstico por imagem , Ecocardiografia Doppler/métodos , Ecocardiografia sob Estresse/métodos , Ecocardiografia Tridimensional/métodos , Humanos , Isquemia Miocárdica/diagnóstico por imagem
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