# Aneurisma da aorta torácica e dissecção aórtica familiar

> Página oficial: https://raras.org/doenca/aneurisma-da-aorta-toracica-e-disseccao-aortica-familiar
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 91387 — https://www.orpha.net/en/disease/detail/91387
- **CID-10**: I71.2
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Doença vascular genética rara caracterizada pela ocorrência familiar de aneurisma, dissecção ou dilatação da aorta torácica afetando um ou mais segmentos da aorta (raiz da aorta, aorta ascendente, arco ou aorta descendente) na ausência de qualquer outra doença associada. Dependendo do tamanho, localização e taxa de progressão da dilatação/dissecção, os pacientes podem ser assintomáticos ou apresentar dispneia, tosse, dor na mandíbula, pescoço, tórax ou costas, edema de cabeça, pescoço ou membros superiores, dificuldade para engolir, rouquidão na voz, pele pálida, pulso fraco e/ou dormência/formigamento nos membros. Os pacientes apresentam risco aumentado de apresentar ruptura aórtica com risco de vida.

## Epidemiologia e herança

- **Prevalência**: <1 / 1 000 000
- **Casos conhecidos**: 22
- **Padrão de herança**: Autosomal dominant

## Sinais e sintomas (77 fenótipos HPO)

- **Ectasia dural** — HPO: HP:0100775 (Ocasional (29-5%))
- **Artrite** — HPO: HP:0001369
- **Obstrução pulmonar crônica** — HPO: HP:0006510
- **Pneumotórax espontâneo** — HPO: HP:0002108
- **Aterosclerose prematura da artéria coronária** — HPO: HP:0005181
- **Flocos da íris** — HPO: HP:0500007
- **Fenômeno de Moyamoya** — HPO: HP:0011834
- **Dissecção da artéria coronária** — HPO: HP:0006702
- **Aneurisma da artéria coronária** — HPO: HP:0030882
- **Pectus carinatum** — HPO: HP:0000768
- **Prolapso da valva mitral** — HPO: HP:0001634
- **Tortuosidade da aorta** — HPO: HP:0006687
- **Hipermobilidade articular** — HPO: HP:0001382
- **Dilatação do arco aórtico** — HPO: HP:0005113
- **Estrias distensas** — HPO: HP:0001065
- **Aneurisma fusiforme da aorta tubular ascendente** — HPO: HP:0031643
- **Fibrilação atrial** — HPO: HP:0005110
- **Pectus excavatum** — HPO: HP:0000767
- **Necrose cística da média** — HPO: HP:0012180
- **Estenose da artéria cerebral anterior** — HPO: HP:0012494
- **Estenose da artéria cerebral média** — HPO: HP:0012493
- **Pigmentação anormal da íris** — HPO: HP:0008034
- **Estenose da artéria carótida** — HPO: HP:0100546
- **Estenose da artéria cerebral posterior** — HPO: HP:0012495
- **Livedo reticularis** — HPO: HP:0033505
- **Aneurisma da aorta torácica** — HPO: HP:0012727
- **Aneurisma da aorta tubular ascendente** — HPO: HP:0004970
- **Regurgitação mitral** — HPO: HP:0001653
- **Hipertrofia do ventrículo esquerdo** — HPO: HP:0001712
- **Estatura alta desproporcional** — HPO: HP:0001519
- **Palato ogival** — HPO: HP:0000218
- **Miopia** — HPO: HP:0000545
- **Apinhamento dentário** — HPO: HP:0000678
- **Ruptura da aorta** — HPO: HP:0031649
- **Morte súbita** — HPO: HP:0001699
- **Aneurisma da aorta** — HPO: HP:0004942
- **Aneurisma da aorta torácica descendente** — HPO: HP:0004959 (Ocasional (29-5%))
- **Morfologia anormal da íris** — HPO: HP:0000525 (Frequente (79-30%))
- **Hemorragia subaracnoidea** — HPO: HP:0002138 (Ocasional (29-5%))
- **Pneumotórax** — HPO: HP:0002107 (Ocasional (29-5%))
- _...e mais 37 sintomas. Ver https://raras.org/doenca/aneurisma-da-aorta-toracica-e-disseccao-aortica-familiar._

## Genes associados (20)

- **EFEMP2** — EGF-containing fibulin-like extracellular matrix protein 2 [Disease-causing germline mutation(s) in]
  - Função: Plays a crucial role in elastic fiber formation in tissue, and in the formation of ultrastructural connections between elastic laminae and smooth muscle cells in the aorta, therefore participates in t
- **MYH11** — Myosin-11 [Disease-causing germline mutation(s) in]
  - Função: Muscle contraction
- **THSD4** — Thrombospondin type-1 domain-containing protein 4 [Disease-causing germline mutation(s) in]
  - Função: Promotes FBN1 matrix assembly. Attenuates TGFB signaling, possibly by accelerating the sequestration of large latent complexes of TGFB or active TGFB by FBN1 microfibril assembly, thereby negatively r
- **SMAD2** — SMAD family member 2 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds
- **TGFB2** — Transforming growth factor beta-2 proprotein [Disease-causing germline mutation(s) in]
  - Função: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively Required to
- **ELN** — Elastin [Candidate gene tested in]
  - Função: Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial
- **ACTA2** — Actin, aortic smooth muscle [Disease-causing germline mutation(s) in]
  - Função: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells
- **TGFBR2** — TGF-beta receptor type-2 [Disease-causing germline mutation(s) in]
  - Função: Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transdu
- **FBN1** — Fibrillin-1 [Disease-causing germline mutation(s) in]
  - Função: Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:15062093, Pub
- **MFAP5** — Microfibrillar-associated protein 5 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: May play a role in hematopoiesis. In the cardiovascular system, could regulate growth factors or participate in cell signaling in maintaining large vessel integrity (By similarity). Component of the e
- **MYLK** — Myosin light chain kinase, smooth muscle [Disease-causing germline mutation(s) in]
  - Função: Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC). Also regulates actin-myosin interaction through a non-k
- **SMAD3** — SMAD family member 3 [Disease-causing germline mutation(s) in]
  - Função: Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds
- **PRKG1** — cGMP-dependent protein kinase 1 [Disease-causing germline mutation(s) (gain of function) in]
  - Função: Serine/threonine protein kinase that acts as a key mediator of the nitric oxide (NO)/cGMP signaling pathway. GMP binding activates PRKG1, which phosphorylates serines and threonines on many cellular p
- **LOX** — Protein-lysine 6-oxidase [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin (PubMed:26838787). Regulator of Ras expression. May play a role i
- **FOXE3** — Forkhead box protein E3 [Disease-causing germline mutation(s) in]
  - Função: Transcription factor that controls lens epithelial cell growth through regulation of proliferation, apoptosis and cell cycle (PubMed:22527307, PubMed:25504734). During lens development, controls the r

## Ensaios clínicos ativos (2)

- **NCT03440697** [ACTIVE_NOT_RECRUITING]: Pathogenetic Basis of Aortopathy and Aortic Valve Disease — https://clinicaltrials.gov/study/NCT03440697
- **NCT06783803** [ACTIVE_NOT_RECRUITING]: Application of Linkage Analysis in the Identification of Novel Hereditary Factors in Familial Aneurysms — https://clinicaltrials.gov/study/NCT06783803
- **NCT04439565** [UNKNOWN]: Study on Susceptibility Genes and Pathogenic Mechanism of Non-syndromic Familial Aortic Dissection — https://clinicaltrials.gov/study/NCT04439565
- **NCT02256163** [COMPLETED]: Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm — https://clinicaltrials.gov/study/NCT02256163
- **NCT01322165** [COMPLETED]: National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions — https://clinicaltrials.gov/study/NCT01322165

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome Loyes-Dietz](https://raras.org/doenca/sindrome-loyes-dietz) — ORPHA:60030 — 43 sintomas em comum
- [Síndrome aneurisma - osteoartrite](https://raras.org/doenca/sindrome-aneurisma-osteoartrite) — ORPHA:284984 — 34 sintomas em comum
- [Síndrome Marfan](https://raras.org/doenca/sindrome-marfan) — ORPHA:558 — 29 sintomas em comum
- [Síndrome Marfan tipo 1](https://raras.org/doenca/sindrome-marfan-tipo-1) — ORPHA:284963 — 29 sintomas em comum
- [Síndrome de Marfan tipo 2](https://raras.org/doenca/sindrome-de-marfan-tipo-2) — ORPHA:284973 — 26 sintomas em comum
- [Síndrome Furlong](https://raras.org/doenca/sindrome-furlong) — ORPHA:97295 — 21 sintomas em comum
- [Síndrome Ehlers-Danlos vascular](https://raras.org/doenca/sindrome-ehlers-danlos-vascular) — ORPHA:286 — 19 sintomas em comum
- [Dissecção da aorta familiar](https://raras.org/doenca/disseccao-da-aorta-familiar) — ORPHA:229 — 19 sintomas em comum
- [Cutis laxa autossômica recessiva tipo 1](https://raras.org/doenca/cutis-laxa-autossomica-recessiva-tipo-1) — ORPHA:90349 — 18 sintomas em comum
- [Anomalia dos grandes vasos (aorta, arco aórtico, artérias pulmonares), congênita](https://raras.org/doenca/anomalia-dos-grandes-vasos-aorta-arco-aortico-arterias-pulmonares-congenita) — ORPHA:98724 — 17 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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