RESUMO
Williams syndrome is a genetic disorder caused by multiple contiguous gene deletions in chromosome 7. Presentation in early life is most often a result of luminal stenosis of right- and left-sided arterial vasculature. We report the case of a newborn infant who had a rapidly progressing diffuse form of arteriopathy that required two surgeries and one percutaneous balloon dilation within the first 2 months of her life.
Assuntos
Angioplastia com Balão , Coartação Aórtica/terapia , Doenças da Aorta/terapia , Arteriopatias Oclusivas/terapia , Procedimentos Cirúrgicos Vasculares , Síndrome de Williams/complicações , Coartação Aórtica/diagnóstico , Coartação Aórtica/genética , Coartação Aórtica/cirurgia , Doenças da Aorta/diagnóstico , Doenças da Aorta/genética , Doenças da Aorta/cirurgia , Arteriopatias Oclusivas/diagnóstico , Arteriopatias Oclusivas/genética , Arteriopatias Oclusivas/cirurgia , Constrição Patológica , Progressão da Doença , Feminino , Humanos , Recém-Nascido , Índice de Gravidade de Doença , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Síndrome de Williams/diagnóstico , Síndrome de Williams/genética , Síndrome de Williams/terapiaRESUMO
We describe a case of congenitally corrected transposition with a double aortic arch. This unique combination of lesions highlights the importance of a complete anatomic assessment prior to referral for surgery.
Assuntos
Aorta Torácica/diagnóstico por imagem , Transposição dos Grandes Vasos/diagnóstico por imagem , Aorta Torácica/cirurgia , Procedimentos Cirúrgicos Cardíacos , Pré-Escolar , Angiografia Coronária , Ecocardiografia , Humanos , Recém-Nascido , Masculino , Transposição dos Grandes Vasos/cirurgiaRESUMO
BACKGROUND: Aortic atresia has been implicated as a risk factor for decreased survival after stage 1 palliation. Prior studies evaluating the association of anatomic subtypes and mortality report conflicting results. Our objective was to determine if mitral valve patency with aortic atresia is associated with increased mortality in hypoplastic left heart syndrome (HLHS). METHODS: All patients (n = 72) with classic HLHS born between August 1996 and May 2002, who underwent stage I Norwood palliation, had presenting echocardiograms reviewed for patency of the mitral and aortic valves. The cohort was divided into three groups: aortic atresia-mitral atresia (AA-MA), aortic stenosis-mitral stenosis (AS-MS), and aortic atresia-mitral stenosis (AA-MS). Analysis included analysis of variance techniques for continuous variables and the 2-tailed Fisher exact test for categoric variables. Survival analysis was performed using the Kaplan-Meier method with log-rank testing. RESULTS: Of the 72 patients, 36 had AA-MA, 17 had AS-MS, and 19 had AA-MS. The stage 1 hospital survival was 92% for the entire cohort, 97% for AA-MA, 94% for AS-MS, and 79% for AA-MS (p = 0.05). Interstage mortality was 8% (6 of 72) overall, but was 21% (4 of 19) for AA-MS versus 6% (2 of 36) for AA-MA and 0% for AS/MS. Overall survival to date was 79% for the entire cohort but was 58% for AA-MS, 86% for AA/MA, and 88% for AA-MS (p = 0.015). Aortic atresia alone was not associated with increased mortality (p = 0.2). CONCLUSIONS: In patients with HLHS, aortic atresia was associated with increased mortality only in the presence of a patent mitral valve. The highest incidence of death was observed primarily during the interstage period.
Assuntos
Valva Aórtica/anormalidades , Síndrome do Coração Esquerdo Hipoplásico/mortalidade , Estenose da Valva Mitral/mortalidade , Complicações Pós-Operatórias/mortalidade , Valva Aórtica/diagnóstico por imagem , Valva Aórtica/cirurgia , Criança , Pré-Escolar , Estudos de Coortes , Ecocardiografia Doppler em Cores , Feminino , Seguimentos , Mortalidade Hospitalar , Humanos , Síndrome do Coração Esquerdo Hipoplásico/diagnóstico por imagem , Síndrome do Coração Esquerdo Hipoplásico/cirurgia , Lactente , Recém-Nascido , Masculino , Estenose da Valva Mitral/diagnóstico por imagem , Estenose da Valva Mitral/cirurgia , Cuidados Paliativos , Complicações Pós-Operatórias/diagnóstico por imagem , Estudos Retrospectivos , Risco , Análise de Sobrevida , Função Ventricular Direita/fisiologiaRESUMO
BACKGROUND: Despite recent improvements in survival of patients with hypoplastic left heart syndrome, those with severe atrial level restriction continue to face higher rates of mortality. We sought to assess the impact of prenatal diagnosis and immediate intervention on the outcome of this high-risk population. METHODS: We performed a retrospective review of patients with hypoplastic left heart syndrome and restriction at the atrial level born between 1997 and 2006. Patients with an intact atrial septum or an interatrial communication less than 2 mm by color Doppler flow mapping on initial postnatal study, or evidence of obstruction to left atrial egress on fetal echocardiogram, were included. Patients were subdivided into two groups based on severity of obstruction. RESULTS: Thirty-eight patients met inclusion criteria; 16 had the most severe form of anatomic obstruction (group 1), and 22 had a lesser degree of obstruction (group 2). Thirty-day cumulative survival for all was 68%: 38% for group 1 and 94% for group 2 (p = 0.001). Twenty-six of the 38 patients (68%) were prenatally diagnosed. Prenatal diagnosis did not improve initial hospital survival or cumulative survival for either group. Eight patients had progression of atrial level restriction from the first fetal study to the first postnatal study. Seven patients prenatally diagnosed with severe restriction underwent planned cesarean section followed by immediate surgical or catheter-based intervention, with only 2 survivors (28%). CONCLUSIONS: Hypoplastic left heart syndrome with an intact atrial septum is a highly lethal condition despite prenatal diagnosis and immediate intervention at birth. Fetal intervention should be considered for these high-risk fetuses.