Dataset Information

Intra-cardiac tumour and bicuspid aortic valve in a patient with neurofibromatosis type 1-rare associations: a case report.

ABSTRACT:

Background

Neurofibromatosis (NF) is an autosomal dominant neurocutaneous disease with multi-system involvement. Three cardiovascular associations are recognized but infrequently reported: congenital heart disease, vasculopathy, and hypertension. Cardiac outflow tract pathology, pulmonary stenosis, and aortic co-arctation have been described in the literature with varying frequency. The incidence of intra-cardiac tumour is exceeding rare.

Case summary

A 53-year-old man presented to the neurosurgical team with myelopathy secondary to cord compression arising from multiple cervical neurofibromas secondary to NF-1. Further cardiac evaluation with echocardiography and cardiac MRI uncovered the presence of both a bicuspid aortic valve (with mild aortic stenosis and moderate aortic regurgitation) and a concurrent intra-cardiac tumour of the mitral papillary muscle; a combined finding which was not reported previously. Serial evaluation confirmed stable disease with no major progression over time.

Discussion

Our case highlights the importance of recognizing cardiovascular manifestations of NF-1 and instituting appropriate screening and surveillance strategies. Targeted non-invasive imaging strategies may be more suited for this purpose over routine clinical examination alone.

SUBMITTER: MacLeod C

PROVIDER: S-EPMC10117367 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature

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Publications

Intra-cardiac tumour and bicuspid aortic valve in a patient with neurofibromatosis type 1-rare associations: a case report.

MacLeod Claire C Mangion Kenneth K Roditi Giles G Ahmad Faheem F

European heart journal. Case reports 20230404 4

<h4>Background</h4>Neurofibromatosis (NF) is an autosomal dominant neurocutaneous disease with multi-system involvement. Three cardiovascular associations are recognized but infrequently reported: congenital heart disease, vasculopathy, and hypertension. Cardiac outflow tract pathology, pulmonary stenosis, and aortic co-arctation have been described in the literature with varying frequency. The incidence of intra-cardiac tumour is exceeding rare.<h4>Case summary</h4>A 53-year-old man presented t ...[more]

PMID: 37090757

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Project description:BackgroundBicuspid aortic valve (BAV) is more than a congenital defect since it is accompanied by several secondary complications that intensify induced impairments. Hence, BAV patients need lifelong evaluations to prevent severe clinical sequelae. We applied 4D-flow magnetic resonance imaging (MRI) for in detail visualization and quantification of in vivo blood flow to verify the reliability of the left ventricular (LV) flow components and pressure drops in the silent BAV subjects with mild regurgitation and preserved ejection fraction (pEF).Materials and methodsA total of 51 BAV patients with mild regurgitation and 24 healthy controls were recruited to undergo routine cardiac MRI followed by 4D-flow MRI using 3T MRI scanners. A dedicated 4D-flow module was utilized to pre-process and then analyze the LV flow components (direct flow, retained inflow, delayed ejection, and residual volume) and left-sided [left atrium (LA) and LV] local pressure drop. To elucidate significant diastolic dysfunction in our population, transmitral early and late diastolic 4D flow peak velocity (E-wave and A-wave, respectively), as well as E/A ratio variable, were acquired.ResultsThe significant means differences of each LV flow component (global measurement) were not observed between the two groups (p > 0.05). In terms of pressure analysis (local measurement), maximum and mean as well as pressure at E-wave and A-wave timepoints at the mitral valve (MV) plane were significantly different between BAV and control groups (p: 0.005, p: 0.02, and p: 0.04 and p: <0.001; respectively). Furthermore, maximum pressure and pressure difference at the A-wave timepoint at left ventricle mid and left ventricle apex planes were significant. Although we could not find any correlation between LV diastolic function and flow components, Low but statistically significant correlations were observed with local pressure at LA mid, MV and LV apex planes at E-wave timepoint (R: -0.324, p: 0.005, R: -0.327, p: 0.004, and R: -0.306, p: 0.008, respectively).ConclusionIn BAV patients with pEF, flow components analysis is not sensitive to differentiate BAV patients with mild regurgitation and healthy control because flow components and EF are global parameters. Inversely, pressure (local measurement) can be a more reliable biomarker to reveal the early stage of diastolic dysfunction.

Project description:Bicuspid aortic valve (BAV), the most common congenital heart defect, is a major cause of aortic valve disease requiring valve interventions and thoracic aortic aneurysms predisposing to acute aortic dissections. The spectrum of BAV ranges from early onset valve and aortic complications (EBAV) to sporadic late onset disease. Rare genomic copy number variants (CNVs) have previously been implicated in the development of BAV and thoracic aortic aneurysms. We determined the frequency and gene content of rare CNVs in EBAV probands (n = 272) using genome-wide SNP microarray analysis and three complementary CNV detection algorithms (cnvPartition, PennCNV, and QuantiSNP). Unselected control genotypes from the Database of Genotypes and Phenotypes were analyzed using identical methods. We filtered the data to select large genic CNVs that were detected by multiple algorithms. Findings were replicated in cohorts with late onset sporadic disease (n = 5040). We identified 34 large and rare (< 1:1000 in controls) CNVs in EBAV probands. The burden of CNVs intersecting with genes known to cause BAV when mutated was increased in case-control analysis. CNVs intersecting with GATA4 and DSCAM were enriched in cases, recurrent in other datasets, and segregated with disease in families. In total, we identified potentially pathogenic CNVs in 8% of EBAV cases, implicating alterations of candidate genes at these loci in the pathogenesis of BAV.Author summaryBicuspid aortic valve (BAV) is the most common form of congenital heart disease and can lead to long-term complications such as aortic stenosis, aortic regurgitation, or thoracic aortic aneurysms. Most BAV-related complications arise in late adulthood, but 10-15% of individuals with BAV develop early onset complications before age 30. Copy number variants (CNVs) are genomic structural variations that have been previously implicated in some types of congenital heart disease, including BAV. Here we demonstrate that individuals with early onset complications of BAV are enriched for specific rare CNVs compared to individuals with late-onset BAV disease. We also describe novel CNVs involving DSCAM , a gene on chromosome 21 that has not previously been associated with the development of BAV. These results may lead to improved risk stratification and targeted therapies for BAV patients.

Dataset Information

Intra-cardiac tumour and bicuspid aortic valve in a patient with neurofibromatosis type 1-rare associations: a case report.

Background

Case summary

Discussion

Publications

Intra-cardiac tumour and bicuspid aortic valve in a patient with neurofibromatosis type 1-rare associations: a case report.

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