RESUMO
We performed a secondary analysis of the Pediatric Heart Network (PHN) Marfan Trial public-use database to evaluate associations between extracardiac features and cardiac and aortic phenotypes in study participants. Aortic aneurysm phenotype was defined as aortic root Z-score ≥4.5, aortic root growth rate ≥75th percentile, aortic dissection, and aortic surgery. Severe cardiac phenotype was defined as aortic dissection, aortic Z-score ≥4.5, aortic valve surgery, at least moderate mitral regurgitation, mitral valve surgery, left ventricular dysfunction, or death. Extracardiac manifestations were characterized by specific organ system involvement and by a novel aggregate extracardiac score (AES) that was created for this study based on the original Ghent nosology. Mixed effects logistic regression analysis compared AES and systems involvement to outcomes. Of 608 participants (60% male), the median age at enrollment was 10.8 years (interquartile range: 6, 15.4). Aortic aneurysm phenotype was observed in 71% of participants and 64% had severe cardiac phenotype. On univariable analysis, skeletal (OR: 1.95, 95% CI: 1.01, 3.72; p = 0.05), skin manifestation (OR: 1.62, 95% CI: 1.13, 2.34; p = 0.01) and AES (OR: 1.17, 95% CI: 1.02, 1.34; p = 0.02) were associated with aortic aneurysm phenotype but were not significant in multivariable analysis. There was no association between extracardiac manifestations and severe cardiac phenotype. Thus, the severity of cardiac manifestations in Marfan syndrome (MFS) was independent of extracardiac phenotype and AES. Severity of extracardiac involvement did not appear to be a useful clinical marker for cardiovascular risk-stratification in this cohort of children and young adults with MFS.
RESUMO
We performed a secondary analysis of the Pediatric Heart Network Marfan Trial public-use database to evaluate associations between extracardiac features and cardiac and aortic phenotypes in study participants. Aortic aneurysm phenotype was defined as aortic root Z-score ≥ 4.5, aortic root growth rate ≥ 75th percentile, aortic dissection, and aortic surgery. Severe cardiac phenotype was defined as aortic dissection, aortic Z-score ≥4.5, aortic valve surgery, at least moderate mitral regurgitation, mitral valve surgery, left ventricular dysfunction, or death. Extracardiac manifestations were characterized by specific organ system involvement and by a novel aggregate extracardiac score that was created for this study based on the original Ghent nosology. Logistic regression analysis compared aggregate extracardiac score and systems involvement to outcomes. Of 608 participants (60% male), the median age at enrollment was 10.8 years (interquartile range: 6, 15.4). Aortic aneurysm phenotype was observed in 71% of participants and 64% had severe cardiac phenotype. On univariate analysis, skeletal (OR: 1.95, 95% CI: 1.01, 3.72; p = 0.05), skin manifestation (OR: 1.62, 95% CI: 1.13, 2.34; p = 0.01) and aggregate extracardiac score (OR: 1.17, 95% CI: 1.02, 1.34; p = 0.02) were associated with aortic aneurysm phenotype but were not significant in multivariate analysis. There was no association between extracardiac manifestations and severe cardiac phenotype. Thus, the severity of cardiac manifestations in Marfan syndrome was independent of extracardiac phenotype and aggregate extracardiac score. Severity of extracardiac involvement did not appear to be a useful clinical marker for cardiovascular risk-stratification in this cohort of children and young adults with Marfan syndrome.
RESUMO
The prevalence of obstructive sleep apnea (OSA) is increased in children and adults with Marfan syndrome (MFS) compared to the general population and has been shown to be associated with rapid aortic root dilation and dissection in adults. Early diagnosis and treatment of OSA may decrease long-term cardiac morbidity. We therefore studied the utility of noninvasive OSA screening tools in children with MFS. We hypothesized that youth with MFS would have higher OSA screening scores than the general pediatric population. Subjects with confirmed MFS were recruited from a single pediatric center. Data collected included cardiac history, retrospective polysomnogram (PSG) data, and prospectively collected Pediatric Sleep Questionnaire (SRBD-PSQ) and Epworth Sleepiness Scale (ESS-CHAD) scores. Fifty-one individuals aged 2-21 years old were identified. Nineteen subjects completed the surveys, 53% female, median age 16 years. Of those that completed the survey, mean SRBD-PSQ score was 0.24 ± 0.21 and mean ESS-CHAD was 6.4 ± 3.7. Comparatively, published normative data for pediatric control subjects were 0.24 ± 0.21 for SRBD-PSQ and 5.4 ± 3.7 for ESS-CHAD. In conclusions, youth with MFS had similar OSA screening scores compared to published pediatric controls. Given these findings and high prevalence of OSA in MFS youth, standard questionnaires may not be an appropriate tool for identifying children at risk for OSA in this population. In the absence of evidence-based guidelines, physicians caring for children with MFS should consider referral for PSG, even in the absence of classic symptoms.
Assuntos
Síndrome de Marfan/epidemiologia , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/epidemiologia , Adolescente , Adulto , Doenças da Aorta/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Programas de Rastreamento , Polissonografia/métodos , Prevalência , Estudos Retrospectivos , Fatores de Risco , Inquéritos e Questionários , Adulto JovemRESUMO
Patients with the Marfan syndrome (MFS) are at risk for sudden death. The contribution of arrhythmias is unclear. This study examines the prevalence of arrhythmias in children with the MFS and their relation to clinical and/or echocardiographic factors. Data from the Pediatric Heart Network randomized trial of atenolol versus losartan in MFS were analyzed (6 months to 25 years old, aortic root diameter z-score > 3.0, no previous aortic surgery and/or dissection). Baseline 24-hour ambulatory electrocardiographic monitoring was performed. Significant ventricular ectopy (VE) and supraventricular ectopy (SVE) were defined as ≥10 VE or SVE/hour, or the presence of high-grade ectopy. Three-year composite clinical outcome of death, aortic dissection, or aortic root replacement was analyzed. There were 274 analyzable monitors on unique patients from 11 centers. Twenty subjects (7%) had significant VE, 13 (5%) significant SVE; of these, 2 (1%) had both. None had sustained ventricular or supraventricular tachycardia. VE was independently associated with increasing number of major Ghent criteria (odds ratio [OR]â¯=â¯2.13/each additional criterion, pâ¯=â¯0.03) and greater left ventricular end-diastolic dimension z-score (ORâ¯=â¯1.47/each 1 unit increase in z-score, pâ¯=â¯0.01). SVE was independently associated with greater aortic sinotubular junction diameter z-score (ORâ¯=â¯1.56/each 1 unit increase in z-score, pâ¯=â¯0.03). The composite clinical outcome (14 events) was not related to VE or SVE (p ≥ 0.3), but was independently related to heart rate variability (higher triangular index). In conclusion, in this cohort, VE and SVE were rare. VE was related to larger BSA-adjusted left ventricular size. Routine ambulatory electrocardiographic monitoring may be useful for risk stratification in select MFS patients.
Assuntos
Arritmias Cardíacas/etiologia , Arritmias Cardíacas/fisiopatologia , Síndrome de Marfan/complicações , Síndrome de Marfan/fisiopatologia , Adolescente , Antagonistas Adrenérgicos beta/uso terapêutico , Adulto , Bloqueadores do Receptor Tipo 1 de Angiotensina II/uso terapêutico , Arritmias Cardíacas/diagnóstico por imagem , Arritmias Cardíacas/tratamento farmacológico , Atenolol/uso terapêutico , Criança , Pré-Escolar , Ecocardiografia , Eletrocardiografia Ambulatorial , Feminino , Humanos , Lactente , Losartan/uso terapêutico , Masculino , Estudos RetrospectivosRESUMO
Few data exist regarding predictors of rapid aortic root dilation and referral for aortic surgery in Marfan syndrome (MFS). To identify independent predictors of the rate of aortic root (AoR) dilation and referral for aortic surgery, we investigated the data from the Pediatric Heart Network randomized trial of atenolol versus losartan in young patients with MFS. Data were analyzed from the echocardiograms at 0, 12, 24, and 36 months read in the core laboratory of 608 trial subjects, aged 6 months to 25 years, who met original Ghent criteria and had an AoR z-score (AoRz) > 3. Repeated measures linear and logistic regressions were used to determine multivariable predictors of AoR dilation. Receiver operator characteristic curves were used to determine cut-points in AoR dilation predicting referral for aortic surgery. Multivariable analysis showed rapid AoR dilation as defined by change in AoRz/year > 90th percentile was associated with older age, higher sinotubular junction z-score, and atenolol use (R2 = 0.01) or by change in AoR diameter (AoRd)/year > 90th percentile with higher sinotubular junction z-score and non-white race (R2 = 0.02). Referral for aortic root surgery was associated with higher AoRd, higher ascending aorta z-score, and higher sinotubular junction diameter:ascending aorta diameter ratio (R2 = 0.17). Change in AoRz of 0.72 SD units/year had 42% sensitivity and 92% specificity and change in AoRd of 0.34 cm/year had 38% sensitivity and 95% specificity for predicting referral for aortic surgery. In this cohort of young patients with MFS, no new robust predictors of rapid AoR dilation or referral for aortic root surgery were identified. Further investigation may determine whether generalized proximal aortic dilation and effacement of the sinotubular junction will allow for better risk stratification. Rate of AoR dilation cut-points had high specificity, but low sensitivity for predicting referral for aortic surgery, limiting their clinical use. Clinical Trial Number ClinicalTrials.gov number, NCT00429364.
Assuntos
Aorta/patologia , Doenças da Aorta/etiologia , Síndrome de Marfan/complicações , Procedimentos Cirúrgicos Vasculares/estatística & dados numéricos , Adolescente , Adulto , Bloqueadores do Receptor Tipo 1 de Angiotensina II , Anti-Hipertensivos/uso terapêutico , Aorta/cirurgia , Doenças da Aorta/epidemiologia , Doenças da Aorta/cirurgia , Atenolol/uso terapêutico , Criança , Pré-Escolar , Dilatação , Ecocardiografia/métodos , Feminino , Humanos , Lactente , Losartan/uso terapêutico , Masculino , Síndrome de Marfan/tratamento farmacológico , Síndrome de Marfan/cirurgia , Curva ROC , Encaminhamento e Consulta/estatística & dados numéricos , Medição de Risco/métodos , Fatores de Risco , Adulto JovemRESUMO
The Pediatric Heart Network randomized trial of atenolol versus losartan in the Marfan syndrome showed no treatment differences in the rates of aortic-root growth or clinical outcomes. In this report we present treatment effects on aortic stiffness and determine whether baseline aortic stiffness predicts aortic-root growth and clinical outcomes. Echocardiograms at 0, 6, 12, 24, and 36 months from 608 subjects (6 months to 25 years) who met original Ghent criteria and had a maximum aortic-root z-score (ARz) >3 were centrally reviewed. Stiffness index (SI) and elastic modulus (EM) were calculated for aortic root and ascending aorta. Data were analyzed using multivariable mixed effects modeling and Cox regression. Heart rate-corrected aortic-root SI over 3 years decreased with atenolol but did not change with losartan (-0.298 ± 0.139 vs 0.141 ± 0.139/year, p = 0.01). In the entire cohort, above-median aortic-root SI (>9.1) and EM (>618 mm Hg) predicted a smaller annual decrease in ARz (p ≤0.001). Upper-quartile aortic-root EM (>914 mm Hg) predicted the composite outcome of aortic-root surgery, dissection, or death (hazard ratio 2.17, 95% confidence interval 1.02 to 4.63, p = 0.04). Crude 3-year event rates were 10.4% versus 3.2% for higher versus lower EM groups. In conclusion, atenolol was associated with a decrease in aortic-root SI, whereas losartan was not. Higher baseline aortic-root SI and EM were associated with a smaller decrease in ARz and increased risk for clinical outcomes. These data suggest that noninvasive aortic stiffness measures may identify patients at higher risk of progressive aortic enlargement and adverse clinical outcomes, potentially allowing for closer monitoring and more aggressive therapy.
Assuntos
Doenças da Aorta/tratamento farmacológico , Atenolol/administração & dosagem , Losartan/administração & dosagem , Síndrome de Marfan/diagnóstico por imagem , Síndrome de Marfan/tratamento farmacológico , Rigidez Vascular/efeitos dos fármacos , Adolescente , Aorta/diagnóstico por imagem , Aorta/efeitos dos fármacos , Doenças da Aorta/diagnóstico por imagem , Doenças da Aorta/etiologia , Técnicas de Imagem Cardíaca/métodos , Criança , Pré-Escolar , Relação Dose-Resposta a Droga , Esquema de Medicação , Humanos , Estimativa de Kaplan-Meier , Modelos Lineares , Síndrome de Marfan/complicações , Prognóstico , Modelos de Riscos Proporcionais , Medição de Risco , Índice de Gravidade de Doença , Taxa de Sobrevida , Resultado do TratamentoRESUMO
PURPOSE: Thoracic aortic aneurysm and dissection (TAAD) is typically inherited in an autosomal dominant manner, but rare X-linked families have been described. So far, the only known X-linked gene is FLNA, which is associated with the periventricular nodular heterotopia type of Ehlers-Danlos syndrome. However, mutations in this gene explain only a small number of X-linked TAAD families. METHODS: We performed targeted resequencing of 368 candidate genes in a cohort of 11 molecularly unexplained Marfan probands. Subsequently, Sanger sequencing of BGN in 360 male and 155 female molecularly unexplained TAAD probands was performed. RESULTS: We found five individuals with loss-of-function mutations in BGN encoding the small leucine-rich proteoglycan biglycan. The clinical phenotype is characterized by early-onset aortic aneurysm and dissection. Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures, and mild skeletal dysplasia. Fluorescent staining revealed an increase in TGF-ß signaling, evidenced by an increase in nuclear pSMAD2 in the aortic wall. Our results are in line with those of prior reports demonstrating that Bgn-deficient male BALB/cA mice die from aortic rupture. CONCLUSION: In conclusion, BGN gene defects in humans cause an X-linked syndromic form of severe TAAD that is associated with preservation of elastic fibers and increased TGF-ß signaling.Genet Med 19 4, 386-395.
Assuntos
Aneurisma da Aorta Torácica/genética , Dissecção Aórtica/genética , Biglicano/genética , Mutação , Dissecção Aórtica/metabolismo , Aneurisma da Aorta Torácica/metabolismo , Biglicano/metabolismo , Células Cultivadas , Feminino , Genes Ligados ao Cromossomo X , Predisposição Genética para Doença , Humanos , Masculino , Linhagem , Análise de Sequência de DNA/métodos , Transdução de Sinais , Fator de Crescimento Transformador beta/metabolismoRESUMO
BACKGROUND: Aortic-root dissection is the leading cause of death in Marfan's syndrome. Studies suggest that with regard to slowing aortic-root enlargement, losartan may be more effective than beta-blockers, the current standard therapy in most centers. METHODS: We conducted a randomized trial comparing losartan with atenolol in children and young adults with Marfan's syndrome. The primary outcome was the rate of aortic-root enlargement, expressed as the change in the maximum aortic-root-diameter z score indexed to body-surface area (hereafter, aortic-root z score) over a 3-year period. Secondary outcomes included the rate of change in the absolute diameter of the aortic root; the rate of change in aortic regurgitation; the time to aortic dissection, aortic-root surgery, or death; somatic growth; and the incidence of adverse events. RESULTS: From January 2007 through February 2011, a total of 21 clinical centers enrolled 608 participants, 6 months to 25 years of age (mean [±SD] age, 11.5±6.5 years in the atenolol group and 11.0±6.2 years in the losartan group), who had an aortic-root z score greater than 3.0. The baseline-adjusted rate of change in the mean (±SE) aortic-root z score did not differ significantly between the atenolol group and the losartan group (-0.139±0.013 and -0.107±0.013 standard-deviation units per year, respectively; P=0.08). Both slopes were significantly less than zero, indicating a decrease in the aortic-root diameter relative to body-surface area with either treatment. The 3-year rates of aortic-root surgery, aortic dissection, death, and a composite of these events did not differ significantly between the two treatment groups. CONCLUSIONS: Among children and young adults with Marfan's syndrome who were randomly assigned to losartan or atenolol, we found no significant difference in the rate of aortic-root dilatation between the two treatment groups over a 3-year period. (Funded by the National Heart, Lung, and Blood Institute and others; ClinicalTrials.gov number, NCT00429364.).
Assuntos
Antagonistas Adrenérgicos beta/uso terapêutico , Bloqueadores do Receptor Tipo 1 de Angiotensina II/uso terapêutico , Aorta/efeitos dos fármacos , Aneurisma Aórtico/prevenção & controle , Atenolol/uso terapêutico , Losartan/uso terapêutico , Síndrome de Marfan/tratamento farmacológico , Antagonistas Adrenérgicos beta/efeitos adversos , Adulto , Bloqueadores do Receptor Tipo 1 de Angiotensina II/efeitos adversos , Aorta/crescimento & desenvolvimento , Aorta/cirurgia , Insuficiência da Valva Aórtica , Atenolol/efeitos adversos , Criança , Pré-Escolar , Intervalo Livre de Doença , Feminino , Humanos , Lactente , Modelos Lineares , Losartan/efeitos adversos , Masculino , Síndrome de Marfan/mortalidade , Síndrome de Marfan/fisiopatologia , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND: Perinatally HIV-infected adolescents may be susceptible to aggregate atherosclerotic cardiovascular disease risk, as measured by the Pathobiological Determinants of Atherosclerosis in Youth (PDAY) coronary arteries and abdominal aorta risk scores, as a result of prolonged exposure to HIV and antiretroviral therapy. METHODS AND RESULTS: Coronary arteries and abdominal aorta PDAY scores were calculated for 165 perinatally HIV-infected adolescents, using a weighted combination of modifiable risk factors: dyslipidemia, cigarette smoking, hypertension, obesity, and hyperglycemia. Demographic and HIV-specific predictors of scores ≥1 were identified, and trends in scores over time were assessed. Forty-eight percent and 24% of the perinatally HIV-infected adolescents had coronary arteries and abdominal aorta scores ≥1, representing increased cardiovascular disease risk factor burden. Significant predictors of coronary arteries scores ≥1 included male sex, history of an AIDS-defining condition, longer duration of use of a ritonavir-boosted protease inhibitor, and no prior use of tenofovir. Significant predictors of abdominal aorta scores ≥1 included suppressed viral load, history of an AIDS-defining condition, and longer duration of boosted protease inhibitor use. No significant changes in coronary arteries and abdominal aorta risk scores were observed over the 4-year study period. CONCLUSIONS: A substantial proportion of perinatally HIV-infected youth have high PDAY scores, reflecting increased aggregate atherosclerotic cardiovascular disease risk factor burden. High scores were predicted by HIV disease severity and boosted protease inhibitor use. PDAY scores may be useful in identifying high-risk youth who may benefit from early lifestyle or clinical interventions.
Assuntos
Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Infecções por HIV/diagnóstico , Infecções por HIV/epidemiologia , Efeitos Tardios da Exposição Pré-Natal/diagnóstico , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Adolescente , Criança , Estudos de Coortes , Feminino , Seguimentos , Humanos , Masculino , Gravidez , Fatores de RiscoRESUMO
BACKGROUND: Prolongation of the QTc interval may be more common than previously believed among individuals with sickle cell disease (SCD). The clinical associations and natural history of QTc prolongation remain unclear in this population. Our objectives were to determine the prevalence of prolonged QTc and evaluate its relationship to clinical factors in children and young adults with SCD. PROCEDURES: We analyzed data from subjects 10 to 25 years old with SCD enrolled in our pulmonary hypertension screening protocol. Screening included echocardiography (ECHO), 12-lead electrocardiogram (ECG) and laboratory testing at steady state. QTc interval >440 msec was considered prolonged. RESULTS: ECG data from 76 subjects (57% male, mean age 14.2 +/- 3 years old, range 10-24) were analyzed. We observed prolonged QTc in 29/76 (38%) subjects. Despite evidence of left ventricular hypertrophy (LVH) in 50/76 (66%) subjects, the frequency of LVH was not significantly different in subjects with and without QTc prolongation. When compared to subjects with normal QTc, subjects with prolonged QTc had higher mean tricuspid regurgitant jet velocity (2.51 +/- 0.27 m/sec vs. 2.33 +/- 0.26 m/sec, P = 0.010) as well as higher mean lactate dehydrogenase (433 +/- 142 IU/L vs. 343 +/- 142 IU/L, P = 0.000) and aspartate aminotransferase (48 +/- 20 IU/L vs. 39 +/- 15 IU/L, P = 0.026). A larger proportion of subjects with prolonged QTc also had a history of recurrent acute chest syndrome (66% vs. 38%, P = 0.038). CONCLUSIONS: We conclude that QTc prolongation is a frequent finding in SCD not associated with LVH. Elevated pulmonary pressures, hemolysis and acute chest syndrome may represent risk factors for prolonged QTc in this population.
Assuntos
Anemia Falciforme/fisiopatologia , Síndrome do QT Longo/fisiopatologia , Adolescente , Adulto , Anemia Falciforme/diagnóstico , Aspartato Aminotransferases/metabolismo , Dor no Peito/diagnóstico , Dor no Peito/fisiopatologia , Criança , Estudos de Coortes , Estudos Transversais , Eletrocardiografia , Feminino , Humanos , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/fisiopatologia , Hipertrofia Ventricular Esquerda/diagnóstico , Hipertrofia Ventricular Esquerda/fisiopatologia , L-Lactato Desidrogenase/metabolismo , Síndrome do QT Longo/diagnóstico , Masculino , Prevalência , Prognóstico , Estudos Prospectivos , Fatores de Risco , Adulto JovemRESUMO
A 10-day-old infant presented with tachypnea, harsh murmur, and cardiomegaly. Echocardiography revealed a multicystic mass invading the entire interventricular septum and protruding into the left ventricular cavity without left ventricular tract outflow tract obstruction and aortic stenosis. The mass was subsequently resected and biopsy revealed it to be a cardiac teratoma. We present an unusually rare case of an intramyocardial teratoma with associated congenital aortic stenosis.
Assuntos
Estenose da Valva Aórtica/congênito , Neoplasias Cardíacas/congênito , Teratoma/congênito , Septo Interventricular/patologia , Estenose da Valva Aórtica/diagnóstico , Estenose da Valva Aórtica/cirurgia , Diagnóstico Diferencial , Ecocardiografia , Feminino , Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/cirurgia , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Teratoma/diagnóstico , Teratoma/cirurgia , Tomografia Computadorizada por Raios X , Septo Interventricular/cirurgiaRESUMO
BACKGROUND: Our surgical strategy for repair of sinus venosus atrial septal defect has evolved chiefly to avoid sinus node dysfunction. We reviewed our experience with the single-patch, two-patch, and Warden repairs. METHODS: We identified 54 patients with repair of sinus venosus atrial septal defect from 1990 to 2006. Mean age was 9.5 +/- 12.6 years; median age was 4.2 years. Partial anomalous pulmonary venous connection was found in 52 patients (96%); drainage was to the right atrium in 8, right atrial-superior vena cava (SVC) junction in 17, and directly to the SVC in 27. Techniques were single-patch repair (24), two-patch repair (25), and Warden repair (5). Autologous pericardium was used in all patients. Echocardiogram and electrocardiogram follow-up were available for 48 patients (89%). RESULTS: There were no early or late deaths and no reoperations. No patient had pulmonary vein stenosis. Five patients had SVC stenosis: 2 mild after two-patch repair; 1 moderate and 1 mild after single-patch repair; and 1 severe stenosis after Warden procedure (p = 0.3). The incidence of rhythm change from sinus to low atrial or junctional rhythm was 35% and was significantly greater among patients with two-patch repair (12 of 22, 55%) compared with single-patch repair (5 of 21, 24%), or the Warden repair (0 of 5, p = 0.02). CONCLUSIONS: Repair of sinus venosus atrial septal defect with autologous pericardium is associated with a low incidence of late SVC or pulmonary vein stenosis with all techniques. Use of the two-patch technique, however, is associated with a significantly greater incidence of sinus node dysfunction. For the patients with partial anomalous pulmonary venous connection entering the SVC, the Warden procedure avoids interfering with the sinus node and should be used preferentially. The single-patch technique remains the procedure of choice for sinus venosus atrial septal defect with partial anomalous pulmonary venous connection entering the right atrium or right atrium-SVC junction.
Assuntos
Procedimentos Cirúrgicos Cardíacos/métodos , Comunicação Interatrial/cirurgia , Veias Pulmonares/anormalidades , Nó Sinoatrial/fisiopatologia , Veia Cava Superior/anormalidades , Adolescente , Adulto , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Veias Pulmonares/cirurgia , Pneumopatia Veno-Oclusiva/etiologia , Veia Cava Superior/cirurgiaRESUMO
OBJECTIVES: The Utah Birth Defect Network (UBDN) uses a population-based birth defect surveillance system that has evolved from identifying only neural tube defects in 1994 to monitoring all structural malformations since 1999. All pregnancy outcomes are monitored statewide through intensive identification of potential cases using multiple reporting sources. METHODS: The UBDN is a well-established statewide surveillance system that uses a combined approach, active and passive, in case ascertainment. Utah has the distinct advantage of having relatively few points of entry into the health care system both pre- and postnatally. A description of the UBDN methodology is presented and the completeness, validity and timing of reporting sources and diagnoses are illustrated using the example of congenital heart defects (CHD). RESULTS: The UBDN identified a total of 2,115 potential CHD cases, of which 1,082 (51.2%) were determined to be true cases and 1,033 (48.8%) were classified as not a case (NAC). A single source was responsible for reporting 1,038 (49.1%) potential cases:241 (23.2%) were true cases, and the remaining 797 (76.8%) were classified as NAC and considered to be false positives. DISCUSSION: This descriptive analysis of CHD cases collected through the UBDN's surveillance system illustrates the necessity--and benefit--of using multiple sources of ascertainment to ensure completeness of reporting.
Assuntos
Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/prevenção & controle , Cardiopatias Congênitas/epidemiologia , Declaração de Nascimento , Anormalidades Congênitas/classificação , Feminino , Cardiopatias Congênitas/diagnóstico , Humanos , Defeitos do Tubo Neural , Vigilância da População , Gravidez , Resultado da Gravidez , Prevalência , Sistema de Registros , UtahRESUMO
BACKGROUND: Our surgical strategy for repair of tetralogy of Fallot has focused on preserving the pulmonary valve. The purpose of this review was to identify pulmonary valve characteristics that mark the limits of this strategy. METHODS: From 1997 through 2004, 102 consecutive patients underwent repair of tetralogy of Fallot at a median age of 5.9 months. Twenty-five patients had a prior shunt. Eighty-two patients (80%) had pulmonary valve-sparing procedures, predominantly through a transatrial and transpulmonary approach (n = 52). Twenty patients had a transannular patch (20%). Intraoperative measurements included the pulmonary valve annulus size and the postoperative pressure ratio between the right and left ventricles. RESULTS: Eighty of 85 (94%) patients with z-score greater than -4 had a pulmonary valve-sparing procedure compared with 2 of 17 patients (12%) with pulmonary valve annulus z-scores less than -4 (p < 0.0001). All patients with a tricuspid pulmonary valve (n = 26) had a pulmonary valve-sparing procedure compared with 56 of 76 (74%) patients with a bicuspid pulmonary valve (p = 0.0016). Five patients with initial pulmonary valve-sparing operations required reoperation for residual stenoses; 4 pulmonary valve-sparing right ventricular outflow tract resections and 1 transannular patch. The only death occurred after reoperation elsewhere. Three of 9 patients (33%) who had a postoperative pressure ratio between the right and left ventricles greater than 0.7 after their initial pulmonary valve-sparing procedure required reoperation compared with 2 of 73 with postoperative pressure ratio between the right and left ventricles less than 0.7 (3%; p = 0.008). Fifteen of 25 patients (60%) with prior shunts had pulmonary valve-sparing procedures. CONCLUSIONS: A pulmonary valve-sparing approach to the repair of tetralogy of Fallot was applied successfully in 80% of patients. Significant markers for success were a measured pulmonary annulus z-score of -4 or larger, a tricuspid pulmonary valve, and a postoperative pressure ratio between the right and left ventricles less than 0.7.
Assuntos
Valva Pulmonar/cirurgia , Tetralogia de Fallot/cirurgia , Feminino , Hemodinâmica , Humanos , Lactente , Masculino , Estenose da Valva Pulmonar/etiologia , Estenose da Valva Pulmonar/fisiopatologia , Estenose da Valva Pulmonar/cirurgia , Reoperação/estatística & dados numéricos , Análise de Sobrevida , Tetralogia de Fallot/complicações , Resultado do TratamentoRESUMO
BACKGROUND: The purpose of this study is to analyze atrioventricular valve procedures when performed in association with repeat Fontan operations and to determine the influence of atrioventricular valvar pathology, ventricular function, and arrhythmias on outcome. METHODS: Between December 1994 and August 2004, 80 patients had repeat Fontan operations that included arrhythmia surgery (78 of 80), venous pathway revision (78 of 80), atrioventricular valve repair-replacement (15 of 80), and other associated procedures. Mean ages were the following: at operation, 20.3 +/- 8.4 years; at prior Fontan, 7.1 +/- 5.8 years. Atrioventricular valve procedures were performed on 8 functionally mitral and 7 functionally tricuspid valves. The average cross-clamp and cardiopulmonary bypass times were 61.9 +/- 42.8 minutes and 218 +/- 82 minutes, respectively. RESULTS: Ventricular dysfunction (8% vs 54%, p < 0.0001), valvar dysfunction (13% vs 25%, p < 0.05), and atrial arrhythmias (18% vs 86%, p < 0.0001) increased during the preceding 12.0 +/- 4.7 years before the most recent Fontan operation. Multivariate analysis for death, orthotopic cardiac transplantation (OCT), or renal dialysis showed severe ventricular dysfunction, age greater than 25 years, right or ambiguous functional ventricle, and ischemic time greater than 100 minutes to be highly significant. Notably, cardiac index, elevated end diastolic pressure, and atrial fibrillation were not predictors of outcome. Mitral valve repairs were inconsistent due to probable technical misjudgments; most tricuspid valves could not be repaired. Operative and late mortality were 1.2% and 5.0%, respectively. Emergent and late OCT were 1.2% and 3.7%, respectively. CONCLUSIONS: Risk factors for poor outcome are severe ventricular dysfunction, right or ambiguous single ventricle, age greater than 25 years, and ischemic time greater than 100 minutes. Mitral valves are potentially more amenable to repair than are tricuspid valves. Prosthetic valve replacement should be considered when valve repair is questionable.