ArticleBMC cardiovascular disorders2023
A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium?
Article in BMC cardiovascular disorders, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 2 citations in OpenAlex.
- Isolated Right Ventricular Noncompaction Cardiomyopathy: Various Clinical Appearances.JACC. Case reports · 2026Article
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4 authors at 1 institution in 1 country.
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Abstract
backgroundNoncompaction of ventricular myocardium(NVM) is a rare kind of cardiomyopathy associated with genetic mutations and nongenetic factors, among which the isolated right ventricular noncompaction (iRVNC) is the most rare type. ACVRL1 is the pathogenic gene of type 2 hereditary hemorrhagic telangiectasia (HHT2), and there's no NVM reported to be associated with ACVRL1 mutation. CASE PRESENTATION: This is a rare case diagnosed as iRVNC and pulmonary hypertention with ACVRL1 mutation detected.
conclusioniRVNC in this case may be due to ACVRL1 mutation, secondary to pulmonary hypertention and right ventricular failure caused by ACVRL1 mutation, or they happened in the same case coincidently.
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