Persistência do canal arterial - válvula aórtica bicúspide - síndrome de anomalias da mão é uma síndrome coração-mão muito rara que se caracteriza por uma variedade de anomalias cardiovasculares, incluindo ducto arterial patente, válvula aórtica bicúspide e pseudocoarctação da aorta em conjunto com anomalias da mão, como braquidactilia e derivado do raio ulnar, ou seja, hipoplasia do quinto metacarpo. A transmissão é provavelmente autossômica dominante.
Introdução
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Persistência do canal arterial - válvula aórtica bicúspide - síndrome de anomalias da mão é uma síndrome coração-mão muito rara que se caracteriza por uma variedade de anomalias cardiovasculares, incluindo ducto arterial patente, válvula aórtica bicúspide e pseudocoarctação da aorta em conjunto com anomalias da mão, como braquidactilia e derivado do raio ulnar, ou seja, hipoplasia do quinto metacarpo. A transmissão é provavelmente autossômica dominante.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 4 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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🇧🇷 Atendimento SUS — Síndrome de ductus arteriosus patente-válvula aórtica bicúspide-anomalias das mãos
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24 centros habilitados pelo SUS para Síndrome de ductus arteriosus patente-válvula aórtica bicúspide-anomalias das mãos
Centros para Síndrome de ductus arteriosus patente-válvula aórtica bicúspide-anomalias das mãos
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Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
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Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
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Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
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Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
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Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
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Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
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Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
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Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
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Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
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Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
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Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
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Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
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Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
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Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
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Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
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Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
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Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
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Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
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Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
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Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
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Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Right Aortic Arch With Bilateral Ductus Arteriosus, Aberrant Left Subclavian Artery, Interrupted Left Carotid Artery.
We show an exceptional case of a right aortic arch (RAA) in a patient with DiGeorge syndrome, breaking the rule that the first epiaortic vessel courses to the contralateral side of the aortic arch. This is a RAA with an aberrant left subclavian artery (ALSA) and an isolated left carotid artery (ILCA) arising from the left pulmonary artery (LPA) via a left anterior ductus arteriosus (LADA), along with bilateral ductus arteriosus. This unique case highlights educational pitfalls in using a simple rule to define arch sidedness. Although challenging, echocardiographic diagnosis of such vascular anomalies is feasible in expert hands. The color-flow and Doppler pattern of the epiaortic vessels provide important information about their arrangement and connection to the aortic arch. Bilateral ductus arteriosus is often a marker of complex vascular anomalies, which are frequently associated with genetic syndromes.
A Rare Case of Posterior Malalignment VSD with Interrupted Right Arch and Isolated Left Common Carotid Artery.
We present a rare and yet unreported constellation of cardiovascular anomalies in a girl with DiGeorge Syndrome (DGS) and congenital athymia due to 22q11.2 deletion and describe her clinical course leading to corrective surgery. Cardiac findings included a large posterior malalignment ventricular septal defect (VSD), a severely hypoplastic aortic valve, and a proximal ascending aorta that continued as the right common carotid artery (RCCA). The aortic arch was right-sided and interrupted. From the main pulmonary artery (MPA), a right-sided patent ductus arteriosus (right PDA) continued as a right-sided descending aorta, which gave rise to the right subclavian artery (RSCA) and an aberrant left subclavian artery (LSCA). A left-sided PDA continued as the isolated left common carotid artery (LCCA). Only 18 cases of Isolated LCCA have been previously reported, none of which were associated with an interrupted right aortic arch. In this case, palliative cardiac catheterization was followed by corrective cardiac surgery and later successful thymic transplantation.
Heart failure caused by Opitz syndrome: a case report and literature review.
Opitz G/BBB syndrome (OS) is a disorder characterized by hypertelorism, hypospadias, and other midline anomalies, first described in 1969 by Opitz et al. The most common heart anomalies include ventricular septal defect, atrial septal defect, coarctation of the aorta, persistent left superior vena cava, patent ductus arteriosus, and patent foramen ovale. A 33-year-old man presented with a history of activity-related shortness of breath, thoracic discomfort, and palpitations after mild activity over the past 20 years. The patient had a distinctive facial appearance, including telecanthus and cranial deformity. This patient with OS presented with typical congenital heart disease and severe heart failure that cannot be explained solely by congenital heart disease or other heart diseases not previously reported in this disorder. This case highlights that OS can directly lead to decreased cardiac function. OS is a raredisorder characterized by midline congenital malformation. Patients with OS should be followed up for longer periods to better characterize long-term outcomes.
Esophageal Atresia and Intrathoracic Stomach in a Complex Case of Congenital Anomalies.
Background/Objectives: Complex cases in pediatric surgery involving multiple congenital anomalies pose significant diagnostic and therapeutic challenges. These conditions require coordinated interdisciplinary care tailored to the individual patient. We present a case of syndromic congenital anomalies in a neonate, later diagnosed with CHARGE syndrome, to illustrate the importance of staged, multidisciplinary management. Methods: A 34-year-old woman in her third pregnancy developed significant polyhydramnios at 31 weeks of gestation, followed by preterm labor. The neonate presented with esophageal atresia with tracheoesophageal fistula (EA/TEF), intrathoracic stomach, aortic coarctation, patent ductus arteriosus, atrial septal defect, and bilateral choanal atresia. A structured treatment protocol was developed and implemented at Klinikum Stuttgart by an interdisciplinary team comprising gynecology, pediatric surgery, cardiology, ENT, neonatology, and genetics. Results: Initial pediatric surgical procedures included ligation of the tracheoesophageal fistula, repositioning of the intrathoracic stomach, and primary esophageal anastomosis. Cardiovascular anomalies were managed through staged interventions. Bilateral choanal atresia was surgically corrected. Genetic testing confirmed CHARGE syndrome. Postoperative care included respiratory support, enteral nutrition, and regular esophageal dilations. Due to persistent reflux esophagitis, antireflux surgery is planned. Conclusions: This case underscores the importance of a highly individualized and interdisciplinary approach in the management of syndromic congenital anomalies. The presence of CHARGE syndrome with multiple system involvement required careful staging of surgical interventions and long-term coordination of follow-up care. Early genetic diagnosis and integrated team planning were critical in optimizing outcomes in this complex neonatal case.
Cardiovascular Anomalies Associated With Esophageal Atresia: A 23-Year Single-Center Experience.
Esophageal atresia (EA) is a rare congenital anomaly frequently associated with congenital heart disease (CHD). This study aimed to evaluate the incidence and characteristics of cardiac anomalies in EA patients treated at a tertiary center in Saudi Arabia. A retrospective review was conducted at National Guard Health Affairs-Riyadh. Medical records of 87 patients diagnosed with EA between 2000 and 2023 were analyzed for EA type, syndromic associations, cardiac anomalies, and the need for cardiac interventions. Statistical analysis was performed using IBM SPSS Statistics for Windows, Version 26 (Released 2019; IBM Corp., Armonk, New York). Of the 87 patients, 75.9% had cardiac anomalies, which decreased to 42.5% when excluding patent ductus arteriosus (PDA) and patent foramen ovale (PFO). The most common EA type was Type C (80.5%). Syndromic diagnoses were identified in 17.3% of patients, with trisomy 21 being the most common. Cardiac anomalies were significantly associated with female gender (p = 0.013) and syndromic status (p = 0.007). Ventricular septal defect (VSD) and coarctation of the aorta were significantly more frequent in syndromic patients. Nine patients required cardiac intervention during the same admission. The need for cardiac intervention was significantly associated with syndromic status, suggesting that these patients may have more severe cardiac anomalies. Cardiac anomalies excluding PDA and PFO occurred in 42.5% of EA patients. ASD and VSD were the most common findings. Syndromic and female patients had higher rates of cardiac anomalies and cardiac interventions. These results emphasize the need for thorough preoperative cardiac evaluation and multidisciplinary management in EA patients.
Publicações recentes
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BMC cardiovascular disordersEsophageal Atresia and Intrathoracic Stomach in a Complex Case of Congenital Anomalies.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Right Aortic Arch With Bilateral Ductus Arteriosus, Aberrant Left Subclavian Artery, Interrupted Left Carotid Artery.
- A Rare Case of Posterior Malalignment VSD with Interrupted Right Arch and Isolated Left Common Carotid Artery.
- Heart failure caused by Opitz syndrome: a case report and literature review.
- Esophageal Atresia and Intrathoracic Stomach in a Complex Case of Congenital Anomalies.
- Cardiovascular Anomalies Associated With Esophageal Atresia: A 23-Year Single-Center Experience.
- Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:228190(Orphanet)
- OMIM OMIM:604381(OMIM)
- MONDO:0011454(MONDO)
- GARD:17148(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55783373(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
