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Síndrome de Shone
ORPHA:99063CID-10 · Q23.8CID-11 · LA88.YDOENÇA RARA

Moçambique, oficialmente designado como República de Moçambique, é um país localizado no sudeste do continente africano, banhado pelo Oceano Índico a leste e que faz fronteira com a Tanzânia ao norte; Maláui e Zâmbia a noroeste; Zimbábue a oeste e Essuatíni e África do Sul a sudoeste. A capital e maior cidade do país é Maputo, anteriormente chamada de Lourenço Marques, durante o domínio português.

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Introdução

O que você precisa saber de cara

📋

Síndrome de Shone é uma cardiopatia congênita rara caracterizada por múltiplas obstruções do lado esquerdo do coração, incluindo estenose supravalvar mitral, válvula mitral em "parafuso de arquiteto", coarctação da aorta e hipoplasia do arco aórtico. Apresenta-se com insuficiência cardíaca e cianose, necessitando de intervenção cirúrgica precoce.

Publicações científicas
64 artigos
Último publicado: 2026 Feb

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
100
pacientes catalogados
Início
Adult
+ childhood, infancy, neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q23.8
🇧🇷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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Sinais e sintomas

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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico64PubMed
Últimos 10 anos46publicações
Pico20217 papers
Linha do tempo
2026Hoje · 2026📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Nenhum gene associado encontrado

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Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de Shone

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Publicações mais relevantes

Timeline de publicações
46 papers (10 anos)
#1

A rare case of partial Shone complex in adulthood: coarctation-site methicillin-sensitive Staphylococcus aureus endocarditis and saccular aneurysm.

Cardiology in the young2026 Feb 27

Shone complex is a rare congenital cardiovascular anomaly characterized by multiple left-sided obstructive lesions. Adult presentation is uncommon and may result in atypical clinical manifestations, particularly when complicated by infective endocarditis. Coarctation of the aorta-associated infective endocarditis is especially rare and carries significant clinical risk. We report a 25-year-old male with partial Shone complex consisting of a parachute mitral valve, mitral stenosis, and coarctation of the aorta. The patient presented with persistent high-grade fever and was diagnosed with methicillin-sensitive Staphylococcus aureus infective endocarditis based on positive blood cultures. Transthoracic and transesophageal echocardiography revealed obstructive left-sided lesions, mitral valve pathology, and moderate aortic regurgitation. Positron emission tomography demonstrated intense hypermetabolic activity at the coarctation site, consistent with active infection and confirming a saccular aneurysm. The patient underwent prolonged intravenous cefazolin therapy followed by surgical repair. The early postoperative course was stable; however, seven months later he re-presented with recurrent fever. Repeat imaging demonstrated graft infection, vegetation on the prosthetic material, and a perforated mitral leaflet. A second course of intravenous antibiotics (cefazolin and rifampicin) was administered, followed by long-term suppressive oral therapy. Subsequent follow-up showed persistent moderate-to-severe mitral regurgitation with stable postoperative anatomy. This case highlights a rare adult manifestation of partial Shone complex complicated by coarctation of the aorta-site methicillin-sensitive Staphylococcus aureus infection, saccular aneurysm formation, and recurrent graft-associated infective endocarditis. The clinical course underscores the importance of vigilant multimodality imaging, early multidisciplinary evaluation, and long-term follow-up in adults with complex CHD, particularly when infectious complications are present.

#2

Never Too Late: Late Heart Block in Shone Complex: A Case Series.

Pediatric cardiology2026 Mar

Shone complex is a group of coexisting obstructive left-sided cardiac lesions with variable presentation and severity. There are limited data regarding long-term outcomes of patients with Shone complex given the rarity of the condition. Late-onset (outside the postoperative period) complete heart block (CHB) has not typically been associated with Shone and is not well described in the literature. In this case series, we retrospectively analyzed 3 clinical cases of patients with Shone complex, aged 31 to 59 years, who developed late heart block. The primary objective of the case series was to identify any associated characteristics among the three Shone complex patients who developed late CHB.

#3

Unmasking Partial Shone Complex: A Late Diagnosis with Rare Associations.

CASE (Philadelphia, Pa.)2025 Nov

• Supravalvular AS is a rare finding in Shone complex (SC). • Despite absence of MS, common complications of SC developed. • Frequent reevaluation via echocardiography is key in detection and management. [Figure: see text]

#4

Customized Pulmonary Artery Stent for Management of Complex Coronary Artery Fistula.

JACC. Case reports2025 Aug 27

Coronary artery fistulas (CAFs) are rare anomalies that can cause ischemia, arrhythmias, and sudden cardiac death. Conventional closure techniques often fail in anatomically complex cases. We present the first-in-human use of a customized, partially covered G-Armor pulmonary artery (PA) stent to manage a left main-to-right pulmonary artery fistula in a patient with Shone complex. The intervention was planned using a three-dimensionally printed model, allowing precise stent customization to avoid obstruction of key pulmonary branches. This case shows the feasibility of using customized endovascular devices to address complex CAFs in high-risk patients. The intervention improved antegrade coronary perfusion and clinical outcomes. To the best of our knowledge, this is the first reported case of a customized partially covered PA stent for CAF management. In anatomically complex and high-risk CAFs, customized stenting offers a viable solution when conventional therapies fail.

#5

A Rare Case of Shone Complex With a Persistent Left Superior Vena Cava and Absent Right Superior Vena Cava.

Cureus2025 Jun

Shone complex is a rare and underrecognized congenital heart disease involving four obstructive lesions of the left heart. This report presents a rare case of incomplete Shone complex, along with other associated anomalies, requires an extensive clinical workup for accurate diagnosis and appropriate surgical planning.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC35 artigos no totalmostrando 45

2026

A rare case of partial Shone complex in adulthood: coarctation-site methicillin-sensitive Staphylococcus aureus endocarditis and saccular aneurysm.

Cardiology in the young
2025

Unmasking Partial Shone Complex: A Late Diagnosis with Rare Associations.

CASE (Philadelphia, Pa.)
2025

Customized Pulmonary Artery Stent for Management of Complex Coronary Artery Fistula.

JACC. Case reports
2025

A Rare Case of Shone Complex With a Persistent Left Superior Vena Cava and Absent Right Superior Vena Cava.

Cureus
2026

Never Too Late: Late Heart Block in Shone Complex: A Case Series.

Pediatric cardiology
2025

Don't Give up on the Left Ventricle! Surgical Strategies for Recruitment of the Borderline Left Heart.

Seminars in thoracic and cardiovascular surgery. Pediatric cardiac surgery annual
2025

Severe Reversible Pulmonary Hypertension in a Patient with Shone Complex Presenting for Heart Transplantation.

Journal of cardiothoracic and vascular anesthesia
2025

A clinical perspective on surgical and diagnostic strategies for neonatal partial shone complex: Insights from a case report.

International journal of surgery case reports
2025

The landscape of congenital heart disease treated with the Ross procedure.

The Journal of thoracic and cardiovascular surgery
2024

Long-term outcomes following the Ross procedure in neonates and infants: A multi-institutional analysis.

The Journal of thoracic and cardiovascular surgery
2024

Arrhythmic Risk in Shone Complex: Lumping the Heterogeneity Together.

JACC. Advances
2024

Atrial and Ventricular Arrhythmia in Adults With Shone Complex: A Single-Center Cohort Study.

JACC. Advances
2024

Echocardiography to the Rescue in Adult-Onset Partial Shone Complex.

CASE (Philadelphia, Pa.)
2024

The Road to Heart Transplant in a Patient With Cardiomyopathy, Shone Complex, and Severe Pulmonary Hypertension.

JACC. Case reports
2024

Non-syndromic Parachute Mitral Valve "When the Valve Dives in": Case Report and Review of the Literature.

Cureus
2024

An Undiagnosed Shone Complex in a 52-Year-Old Female: A Case Report.

Journal of investigative medicine high impact case reports
2023

A Rare Case of Intramitral Valve Ring in the Setting of Shone Complex Diagnosed by Echocardiography.

Journal of cardiovascular echography
2023

Surgical Considerations in Shone Complex.

Seminars in cardiothoracic and vascular anesthesia
2023

Single coronary artery and coronary artery-pulmonary artery fistula in a variation of the Shone complex.

Pediatric radiology
2023

Shone Complex: A Case Report of Congenital Heart Disease Detected Using Point-of-care Ultrasound.

Clinical practice and cases in emergency medicine
2023

Double-chambered left ventricle in a patient with incomplete Shone complex.

Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology
2023

Comparison of early-stage stenosis and regurgitation results among patients who underwent aortic valve repair.

Cardiology in the young
2023

Ross procedure in neonates and infants: A valuable operation with defined limits.

The Journal of thoracic and cardiovascular surgery
2022

Outcomes of aortic valve repair in children resulting in bicuspid anatomy: Is there a need for tricuspidization?

The Journal of thoracic and cardiovascular surgery
2021

Shone syndrome revealed by treatment-resistant hypertension.

Annals of medicine and surgery (2012)
2021

The Appearance of an Underrecognized Congenital Heart Disease in a Patient With COVID-19 Pneumonia.

Journal of investigative medicine high impact case reports
2021

The clinical presentation and outcome of aortic coarctation associated with left ventricular inflow and outflow tract lesion in adult patients: Shone syndrome and beyond.

International journal of cardiology
2021

Mitral valve replacement in infants and younger children.

Scientific reports
2021

An unusual case of Shone's complex in an adult depicted on computed tomography angiography.

Journal of cardiac surgery
2021

Rare Variant of Shone Complex.

Circulation. Cardiovascular imaging
2021

Complex congenital heart diseases among children presenting for cardiac surgery in a tertiary health facility in Enugu; South-East Nigeria. A rising trend.

Nigerian journal of clinical practice
2020

Hemodynamics in Adults With the Shone Complex.

The American journal of cardiology
2020

Pediatric Cardiology Specialist's Opinions Toward the Acceptability of Comfort Care for Congenital Heart Disease.

Pediatric cardiology
2020

Management of Severe Coarctation of the Aorta During Pregnancy.

JACC. Case reports
2020

Heart failure with reduced and preserved ejection fraction in adult congenital heart disease.

Heart failure reviews
2019

Role of perioperative echocardiography in repair of incomplete shone complex: A case series.

Annals of cardiac anaesthesia
2019

Incomplete Form of Shone Complex in an Adult Congenital Heart Disease Patient.

The Korean journal of thoracic and cardiovascular surgery
2019

Computed tomography imaging characteristics of shone syndrome.

Radiology case reports
2017

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature genetics
2017

Congenital heart defects in molecularly proven Kabuki syndrome patients.

American journal of medical genetics. Part A
2017

Evolving Understanding of Shone Complex Through the Lifespan: What's in an Eponym?

The Canadian journal of cardiology
2017

Shone Complex: An Under-recognized Congenital Heart Disease With Substantial Morbidity in Adulthood.

The Canadian journal of cardiology
2016

Role of intraoperative transesophageal echocardiography in pediatric cardiac surgery.

Journal of the Saudi Heart Association
2015

Double orifice mitral valve and bicuspid aortic valve: pieces of the same single puzzle?

Case reports in cardiology
2015

Right Ventricular Enlargement In Utero: Is It Coarctation?

Pediatric cardiology

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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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.

  1. A rare case of partial Shone complex in adulthood: coarctation-site methicillin-sensitive Staphylococcus aureus endocarditis and saccular aneurysm.
    Cardiology in the young· 2026· PMID 41755491mais citado
  2. Never Too Late: Late Heart Block in Shone Complex: A Case Series.
    Pediatric cardiology· 2026· PMID 40627183mais citado
  3. Unmasking Partial Shone Complex: A Late Diagnosis with Rare Associations.
    CASE (Philadelphia, Pa.)· 2025· PMID 41623570mais citado
  4. Customized Pulmonary Artery Stent for Management of Complex Coronary Artery Fistula.
    JACC. Case reports· 2025· PMID 40883060mais citado
  5. A Rare Case of Shone Complex With a Persistent Left Superior Vena Cava and Absent Right Superior Vena Cava.
    Cureus· 2025· PMID 40642707mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:99063(Orphanet)
  2. MONDO:0020404(MONDO)
  3. GARD:19630(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q2279783(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 Shone
Compêndio · Raras BR

Síndrome de Shone

ORPHA:99063 · MONDO:0020404
Prevalência
<1 / 1 000 000
Casos
100 casos conhecidos
CID-10
Q23.8 · Outras malformações congênitas das valvas aórtica e mitral
CID-11
Início
Adult, Childhood, Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1868705
EuropePMC
Wikidata
Papers 10a
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