# Não-compactação ventricular esquerda

> Página oficial: https://raras.org/doenca/nao-compactacao-ventricular-esquerda
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 54260 — https://www.orpha.net/en/disease/detail/54260
- **CID-10**: I42.8
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A não compactação do ventrículo esquerdo (NCVE) é uma cardiomiopatia rara caracterizada anatomicamente por trabéculas ventriculares esquerdas proeminentes e recessos intratrabeculares profundos, causando disfunção sistólica e diastólica progressiva, anormalidades de condução e, ocasionalmente, eventos tromboembólicos.

## Epidemiologia e herança


## Sinais e sintomas (42 fenótipos HPO)

- **Palpitações** — HPO: HP:0001962
- **Arritmia** — HPO: HP:0011675
- **Disfunção diastólica do ventrículo esquerdo** — HPO: HP:0025168
- **Disfunção sistólica do ventrículo esquerdo** — HPO: HP:0025169
- **Coração esquerdo hipoplásico** — HPO: HP:0004383
- **Bloqueio atrioventricular de primeiro grau** — HPO: HP:0011705
- **Persistência do canal arterial** — HPO: HP:0001643
- **Insuficiência cardíaca congestiva** — HPO: HP:0001635
- **Aumento do volume diastólico final do ventrículo esquerdo** — HPO: HP:0033755
- **Síncope** — HPO: HP:0001279
- **Cardiomiopatia dilatada** — HPO: HP:0001644
- **Não compactação do ventrículo esquerdo** — HPO: HP:0030682
- **Hipertensão arterial pulmonar** — HPO: HP:0002092
- **Fibrose endocárdica** — HPO: HP:0006685
- **Arritmia ventricular** — HPO: HP:0004308
- **Bloqueio do ramo esquerdo** — HPO: HP:0011713
- **Morte cardíaca súbita** — HPO: HP:0001645
- **Hipertrofia do ventrículo esquerdo** — HPO: HP:0001712
- **Fração de ejeção ventricular esquerda reduzida** — HPO: HP:0012664
- **Defeito do septo ventricular perimembranoso** — HPO: HP:0011682
- **Regurgitação mitral** — HPO: HP:0001653
- **Cardiomiopatia de não compactação do ventrículo esquerdo** — HPO: HP:0011664
- **Anomalia de Ebstein da valva tricúspide** — HPO: HP:0010316
- **Tromboembolismo pulmonar** — HPO: HP:0034192
- **Coartação da aorta** — HPO: HP:0001680
- **Fibrose cardíaca intersticial** — HPO: HP:0031329
- **Taquicardia ventricular** — HPO: HP:0004756
- **Valva aórtica bicúspide** — HPO: HP:0001647
- **Artéria umbilical única** — HPO: HP:0001195
- **Regurgitação tricúspide** — HPO: HP:0005180
- **Hipoplasia da artéria pulmonar** — HPO: HP:0004971
- **Cardiomiopatia restritiva** — HPO: HP:0001723
- **Hipertrofia de cardiomiócitos** — HPO: HP:0031319
- **Bloqueio incompleto do ramo direito** — HPO: HP:6000313
- **Intervalo QT prolongado** — HPO: HP:0001657
- **Aumento da concentração circulante de peptídeo natriurético cerebral** — HPO: HP:0033534
- **Fibrilação atrial** — HPO: HP:0005110
- **Bradicardia sinusal** — HPO: HP:0001688
- **Desarranjo de miofibras** — HPO: HP:0031318
- **Cardiomiopatia de não compactação** — HPO: HP:0012817
- _...e mais 2 sintomas. Ver https://raras.org/doenca/nao-compactacao-ventricular-esquerda._

## Genes associados (15)

- **ACTC1** — Actin, alpha cardiac muscle 1 [Major susceptibility factor in]
  - Função: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells
- **MIB1** — E3 ubiquitin-protein ligase MIB1 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intra
- **TBX20** — T-box transcription factor TBX20 [Disease-causing germline mutation(s) in]
  - Função: Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart
- **MIB2** — E3 ubiquitin-protein ligase MIB2 [Major susceptibility factor in]
  - Função: E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intra
- **LMNA** — Prelamin-A/C [Major susceptibility factor in]
  - Função: Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the i
- **TPM1** — Tropomyosin alpha-1 chain [Disease-causing germline mutation(s) in]
  - Função: Binds to actin filaments in muscle and non-muscle cells (PubMed:23170982). Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated mu
- **MYH7B** — Myosin-7B [Disease-causing germline mutation(s) in]
  - Função: Involved in muscle contraction
- **MYH7** — Myosin-7 [Disease-causing germline mutation(s) in]
  - Função: Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamenta
- **TNNT2** — Troponin T, cardiac muscle [Disease-causing germline mutation(s) in]
  - Função: Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity
- **DTNA** — Dystrobrevin alpha [Candidate gene tested in]
  - Função: May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors
- **PLEKHM2** — Pleckstrin homology domain-containing family M member 2 [Major susceptibility factor in]
  - Função: Plays a role in lysosomes movement and localization at the cell periphery acting as an effector of ARL8B. Required for ARL8B to exert its effects on lysosome location, recruits kinesin-1 to lysosomes
- **LDB3** — LIM domain-binding protein 3 [Major susceptibility factor in]
  - Função: May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton
- **PKP2** — Plakophilin-2 [Disease-causing germline mutation(s) in]
  - Função: A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:25208567). Regulates focal adhesion turnover resulting in changes in focal adhesion
- **MYBPC3** — Myosin-binding protein C, cardiac-type [Candidate gene tested in]
  - Função: Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-
- **PRDM16** — Histone-lysine N-methyltransferase PRDM16 [Disease-causing germline mutation(s) in]
  - Função: Transcription regulator that acts both as a histone methyltransferase or chromatin adapter, depending on the context (PubMed:12816872). In the cytoplasm, acts as a histone methyltransferase, which cat

## Ensaios clínicos ativos (3)

- **NCT06607471** [RECRUITING]: Multimodal and Multidisciplinary Approach to Optimize Diagnostic, Prognostic, and Therapeutic Management of Patients with Non-ischemic Cardiomyopathies and Arrhythmogenic-inflammatory Phenotypes: a Multicenter, Observational, Retrospective and Prospective Registry Study. — https://clinicaltrials.gov/study/NCT06607471
- **NCT04265040** [RECRUITING]: DZHK TORCH-Plus is a Registry for Patients With Cardiomyopathies and Serves as Source for Cardiovascular Research Studies — https://clinicaltrials.gov/study/NCT04265040
- **NCT06024759** [RECRUITING]: Predictors of Risk in Left Ventricular Non-Compaction — https://clinicaltrials.gov/study/NCT06024759
- **NCT02568072** [COMPLETED]: Training-induced Increased Left Ventricular Trabeculation — https://clinicaltrials.gov/study/NCT02568072
- **NCT03572569** [UNKNOWN]: Risk Stratification in Children and Adolescents With Primary Cardiomyopathy — https://clinicaltrials.gov/study/NCT03572569
- **NCT01470014** [COMPLETED]: Cardiac Computed Tomography: Characteristics of Isolated Left Ventricular Non-compaction — https://clinicaltrials.gov/study/NCT01470014
- **NCT01481298** [COMPLETED]: Value of Cardiac Magnetic Resonance (CMR) Derived Parameters for Diagnosing Left Ventricular Non-compaction Cardiomyopathy — https://clinicaltrials.gov/study/NCT01481298

## Doenças relacionadas (por similaridade fenotípica)

- [Miocardiopatia dilatada isolada familiar](https://raras.org/doenca/miocardiopatia-dilatada-isolada-familiar) — ORPHA:154 — 37 sintomas em comum
- [Síndrome do QT longo de Romano-Ward](https://raras.org/doenca/sindrome-do-qt-longo-de-romano-ward) — ORPHA:101016 — 18 sintomas em comum
- [Síndrome QT longo familiar congênito](https://raras.org/doenca/sindrome-qt-longo-familiar-congenito) — ORPHA:768 — 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 — 16 sintomas em comum
- [Síndrome coração-mão](https://raras.org/doenca/sindrome-coracao-mao) — ORPHA:228184 — 14 sintomas em comum
- [Comunicação interatrial](https://raras.org/doenca/comunicacao-interatrial) — ORPHA:1478 — 14 sintomas em comum
- [Malformação tricúspide, congênita](https://raras.org/doenca/malformacao-tricuspide-congenita) — ORPHA:98721 — 13 sintomas em comum
- [Síndrome Holt-Oram](https://raras.org/doenca/sindrome-holt-oram) — ORPHA:392 — 11 sintomas em comum
- [Divertículo cardíaco](https://raras.org/doenca/diverticulo-cardiaco) — ORPHA:1686 — 11 sintomas em comum
- [Hipertensão arterial pulmonar](https://raras.org/doenca/hipertensao-arterial-pulmonar) — ORPHA:182090 — 11 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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