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Síndrome de ductus arteriosus patente-válvula aórtica bicúspide-anomalias das mãos
ORPHA:228190CID-10 · Q87.2CID-11 · LA8YOMIM 604381DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

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

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
7
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PE, BA, CE, PB +10CID-10: Q87.2
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
5 sintomas
❤️
Coração
2 sintomas
😀
Face
1 sintomas

+ 4 sintomas em outras categorias

Características mais comuns

100%prev.
Valva aórtica bicúspide
100%prev.
Persistência do canal arterial
100%prev.
Pseudocoartação da aorta
100%prev.
Morfologia anormal da mão
90%prev.
Clinodactilia do quinto dedo
Muito frequente (99-80%)
90%prev.
Quinto metacarpo curto
Muito frequente (99-80%)
12sintomas
Muito frequente (7)
Muito raro (1)
Sem dados (4)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 características clínicas mais associadas, ordenadas por frequência.

Valva aórtica bicúspideBicuspid aortic valve
Muito frequente100%
Persistência do canal arterialPatent ductus arteriosus
Muito frequente100%
Pseudocoartação da aortaPseudocoarctation of the aorta
Muito frequente100%
Morfologia anormal da mãoAbnormal hand morphology
Muito frequente100%
Clinodactilia do quinto dedoClinodactyly of the 5th finger
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos82publicações
Pico201814 papers
Linha do tempo
2026Hoje · 2026📈 2018Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de ductus arteriosus patente-válvula aórtica bicúspide-anomalias das mãos

Centros de Referência SUS

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

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

Timeline de publicações
0 papers (10 anos)
#1

Right Aortic Arch With Bilateral Ductus Arteriosus, Aberrant Left Subclavian Artery, Interrupted Left Carotid Artery.

Echocardiography (Mount Kisco, N.Y.)2026 Jan

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.

#2

A Rare Case of Posterior Malalignment VSD with Interrupted Right Arch and Isolated Left Common Carotid Artery.

Pediatric cardiology2026 Apr

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.

#3

Heart failure caused by Opitz syndrome: a case report and literature review.

BMC cardiovascular disorders2025 Dec 02

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.

#4

Esophageal Atresia and Intrathoracic Stomach in a Complex Case of Congenital Anomalies.

Children (Basel, Switzerland)2025 Sep 16

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.

#5

Cardiovascular Anomalies Associated With Esophageal Atresia: A 23-Year Single-Center Experience.

Cureus2025 Aug

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

Ver todas no PubMed

📚 EuropePMCmostrando 82

2026

Right Aortic Arch With Bilateral Ductus Arteriosus, Aberrant Left Subclavian Artery, Interrupted Left Carotid Artery.

Echocardiography (Mount Kisco, N.Y.)
2025

Heart failure caused by Opitz syndrome: a case report and literature review.

BMC cardiovascular disorders
2025

Esophageal Atresia and Intrathoracic Stomach in a Complex Case of Congenital Anomalies.

Children (Basel, Switzerland)
2025

Cardiovascular Anomalies Associated With Esophageal Atresia: A 23-Year Single-Center Experience.

Cureus
2026

A Rare Case of Posterior Malalignment VSD with Interrupted Right Arch and Isolated Left Common Carotid Artery.

Pediatric cardiology
2025

Surgical Management of a Patient With Non-Fallot-Type Absent Pulmonary Valve Syndrome.

World journal for pediatric &amp; congenital heart surgery
2025

Berry syndrome, a rare congenital cardiac structural abnormality with 1-stage surgical repair: A case report.

Medicine
2025

Unusual presentation of anomalous origin of the right pulmonary artery from the ascending aorta: case report.

The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology
2025

Double Outlet Right Ventricle: A Rare Finding in a 15-Month-Old Female With Failure to Thrive.

Clinical case reports
2024

Surgical treatment experience of seven cases of Berry syndrome.

Journal of cardiothoracic surgery
2024

A Case of Antenatal Diagnosis of Absent Pulmonary Valve Syndrome with Intact Ventricular Septum, Large Patent Ductus Arteriosus, and Ascending Aorta Dilatation.

The journal of Tehran Heart Center
2024

Special considerations for the stabilization and resuscitation of patients with cardiac disease in the Neonatal Intensive Care Unit.

Seminars in perinatology
2024

[Incidental discovery of a patent ductus arteriosus in adults].

Revue medicale de Liege
2024

Aberrant left coronary artery from the pulmonary artery with patent ductus arteriosus - a case report and review of the literature.

Journal of cardiothoracic surgery
2024

Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.

Diagnostics (Basel, Switzerland)
2024

Operative Repair of Aortopulmonary Window: A 25-Year Experience.

World journal for pediatric &amp; congenital heart surgery
2024

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.

Diagnostics (Basel, Switzerland)
2023

CHARGE syndrome and congenital heart diseases: systematic review of literature.

Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace
2023

[Rare case of incomplete Shone syndrome in adult man with marfanoid morphotype].

Annales de cardiologie et d'angeiologie
2023

Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder.

Journal of clinical medicine
2024

Genetic Problems, Diagnosis, and Cardiovascular Manifestations of Loeys-Dietz Syndrome.

Cardiology in review
2022

Proximal Interruption of Pulmonary Artery: Spectrum of Radiological Findings With Emphasis on Chest Radiograph and Contrast-Enhanced Computed Tomography (CECT).

Cureus
2022

Surgical treatment of Shone's syndrome and patent ductus arteriosus in an adult.

BMC cardiovascular disorders
2022

Treatment-refractory heart failure as a manifestation of aortic arch atresia.

Boletin medico del Hospital Infantil de Mexico
2022

Successful Management in an Infant Patient of PHACE Syndrome with a Complicated Aortic Arch Anomaly.

Case reports in pediatrics
2022

Concomitant cardiovascular malformations in isolated bicuspid aortic valve disease: a retrospective cross-sectional study and meta-analysis.

Cardiovascular diagnosis and therapy
2022

Prenatal Diagnosis, Associations and Outcome for Fetuses with Congenital Absence of the Pulmonary Valve Syndrome.

Anatolian journal of cardiology
2022

A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report.

BMC pediatrics
2022

Mowat-Wilson syndrome presenting with Shone's complex cardiac anomaly.

BMJ case reports
2021

Stridor as a Harbinger of Congenital Cardiovascular Anomaly.

Acta Cardiologica Sinica
2021

Holt-Oram syndrome, bicuspid aortic valve, and patent ductus arteriosus.

Kardiologia polska
2021

Berry syndrome-a rare congenital cardiac anomaly.

Indian journal of thoracic and cardiovascular surgery
2022

Absent pulmonary valve with tricuspid atresia/stenosis: literature review with new three long-term cases.

Heart and vessels
2021

Clinical and imaging characteristics of isolated subclavian artery in pediatric patients.

Clinical imaging
2021

Supravalvar aortic stenosis: Imaging characteristics and associations on multidetector computed tomography angiography.

Journal of cardiac surgery
2021

Prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother.

Taiwanese journal of obstetrics &amp; gynecology
2021

Berry syndrome: a case report and literature review.

BMC cardiovascular disorders
2020

The Prevalence of Congenital Heart Diseases in Syndromic Children at King Khalid National Guard Hospital from 2005 to 2016.

Cureus
2021

Determination of anomalous pulmonary venous return with high-pitch low-dose computed tomography in paediatric patients.

Folia morphologica
2020

Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy?

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2020

Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2019

Single-stage repair of interrupted aortic arch type B with ventricular septal defect.

Multimedia manual of cardiothoracic surgery : MMCTS
2019

Anomalous Origin of the Right Coronary Artery from the Pulmonary Artery in a Neonate with Turner Syndrome and Aortic Arch Hypoplasia.

Texas Heart Institute journal
2019

Incidentally detected small fistula flows in pulmonary artery by colour Doppler: echocardiographic findings and follow-up results.

Cardiology in the young
2019

Echocardiographic and pathomorphological features in fetuses with ductal-dependent congenital heart diseases.

Echocardiography (Mount Kisco, N.Y.)
2019

The Impact of Technology on the Diagnosis of Congenital Malformations.

American journal of epidemiology
2019

Use of ductus arteriosus for reconstruction of aortic arch in a neonate.

Asian cardiovascular &amp; thoracic annals
2019

Absent Pulmonary Valve Syndrome in a Fetus: A Case Report and Literature Review.

Fetal and pediatric pathology
2019

Neonatal Death Caused by Interrupted Aortic Arch Associated With 22q11.2 Deletion Syndrome: An Autopsy Case Report.

The American journal of forensic medicine and pathology
2018

[Short and midterm results of surgical treatment of interrupted aortic arch].

Zhonghua wai ke za zhi [Chinese journal of surgery]
2018

Particularities of neonatal isthmic aortic coarctation (A Tunisian study).

La Tunisie medicale
2018

Prevalence of congenital cardiac anomalies in patients with cleft lip and palate - Its implications in surgical management.

Journal of oral biology and craniofacial research
2019

Type B Interrupted Right Aortic Arch: Diagnostic and Surgical Approaches.

The Annals of thoracic surgery
2018

Incidental finding of pulmonary arterial sling during patent ductus arteriosus surgery in a patient with Mowat-Wilson syndrome.

Cardiology in the young
2018

Hybrid strategies for high-risk non-hypoplastic left heart syndrome patients.

Journal of cardiac surgery
2018

Perioperative and Anesthetic Considerations in Interrupted Aortic Arch.

Seminars in cardiothoracic and vascular anesthesia
2018

Preoperative Physiology, Imaging, and Management of Interrupted Aortic Arch.

Seminars in cardiothoracic and vascular anesthesia
2018

Incidental adult polysplenia with situs inversus, interrupted inferior vena cava with azygos continuation, patent ductus arteriosus, and aortic branches variations: a case report.

Journal of thoracic disease
2018

Spontaneous regression of severe aortic coarctation in trisomy 18.

Cardiology in the young
2018

An unusual case of interrupted cervical aortic arch associated with long segment coarctation of the descending thoracic aorta.

Cardiology in the young
2018

Surgical Palliation of Right Aortic Arch With an Isolated Innominate Artery From the Left Ductus Arteriosus.

World journal for pediatric &amp; congenital heart surgery
2018

Cardiac arrest and ventricular arrhythmia in adults with Ebstein anomaly and left ventricular non-compaction.

Journal of cardiology
2018

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.

Genetics in medicine : official journal of the American College of Medical Genetics
2018

Percutaneous embolization of congenital portosystemic venous shunt in an infant with respiratory distress.

The Turkish journal of pediatrics
2017

[Clinical and genetic characteristics of Williams-Beuren syndrome: 2 cases report].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
2017

Prenatal ultrasonic diagnosis of absent pulmonary valve syndrome: A case report.

Medicine
2017

Cardio-cephalic neural crest syndrome: A novel hypothesis of vascular neurocristopathy.

Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences
2017

TFAP2B mutation and dental anomalies.

Journal of human genetics
2017

Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.

American journal of medical genetics. Part A
2016

Malrotation syndrome resulting in fatal ileus in children.

Archiv fur Kriminologie
2016

An Extremely Rare Variant of Pulmonary Venous Atresia.

The Annals of thoracic surgery
2016

Descending aortic flow reversal in obstructed total anomalous pulmonary venous connection.

Cardiology in the young
2016

Expectations and limitations after bilateral pulmonary artery banding.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2016

Repair of Vascular Ring With Right-Sided Interrupted Aortic Arch and Right-Sided Descending Aorta.

The Annals of thoracic surgery
2015

Associated congenital anomalies among cases with Down syndrome.

European journal of medical genetics
2015

Aortopulmonary window and interrupted aortic arch with Eisenmenger syndrome in an adult.

Circulation
2015

7q11.23 Duplication syndrome: Physical characteristics and natural history.

American journal of medical genetics. Part A
2015

Ductal stent implantation in tetralogy of fallot with aortic arch abnormality.

Texas Heart Institute journal
2015

The value of transthoracic echocardiography in the diagnosis of anomalous origin of the right pulmonary artery from the ascending aorta: A single center experience from China.

International journal of cardiology
2015

Topiramate use during pregnancy and major congenital malformations in multiple populations.

Birth defects research. Part A, Clinical and molecular teratology
2015

Prevalence and echocardiographic characteristics of common congenital heart disease in adult patients at Siriraj Hospital: 10-year study.

Journal of the Medical Association of Thailand = Chotmaihet thangphaet
2015

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.

Human molecular genetics

Associações

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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.

  1. Right Aortic Arch With Bilateral Ductus Arteriosus, Aberrant Left Subclavian Artery, Interrupted Left Carotid Artery.
    Echocardiography (Mount Kisco, N.Y.)· 2026· PMID 41548205mais citado
  2. A Rare Case of Posterior Malalignment VSD with Interrupted Right Arch and Isolated Left Common Carotid Artery.
    Pediatric cardiology· 2026· PMID 40750689mais citado
  3. Heart failure caused by Opitz syndrome: a case report and literature review.
    BMC cardiovascular disorders· 2025· PMID 41331794mais citado
  4. Esophageal Atresia and Intrathoracic Stomach in a Complex Case of Congenital Anomalies.
    Children (Basel, Switzerland)· 2025· PMID 41007109mais citado
  5. Cardiovascular Anomalies Associated With Esophageal Atresia: A 23-Year Single-Center Experience.
    Cureus· 2025· PMID 40978987mais citado
  6. Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome.
    Am J Med Genet· 1999· PMID 10533032recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:228190(Orphanet)
  2. OMIM OMIM:604381(OMIM)
  3. MONDO:0011454(MONDO)
  4. GARD:17148(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. 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

Síndrome de ductus arteriosus patente-válvula aórtica bicúspide-anomalias das mãos
Compêndio · Raras BR

Síndrome de ductus arteriosus patente-válvula aórtica bicúspide-anomalias das mãos

ORPHA:228190 · MONDO:0011454
Prevalência
<1 / 1 000 000
Casos
7 casos conhecidos
Herança
Autosomal dominant
CID-10
Q87.2 · Síndromes com malformações congênitas afetando predominantemente os membros
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1858420
Wikidata
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