Bilobar apical pseudoaneurysm after left ventricular venting in a Marfan's patient

Janssen, J. H. P.; Leiner, Tim; Cheriex, Emile C.

doi:10.1093/ejechocard/jen225

Cited by 5 publications

(1 citation statement)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is likely that the increased thickness of the LV myocardial wall, including a relatively fibrillin-1-poor outer compact myocardium [ 2 ], prevents the development of transmural lesions in this cardiac chamber. In humans, one case of a LV pseudoaneurysm in a patient with MFS has been reported which was related to apical venting at the occasion of aortic surgery [ 37 ]. The LV pseudoaneurysm was detected by means of ultrasound imaging and had a cavity width of 40 mm.…”

Section: Discussionmentioning

confidence: 99%

Spontaneous Right Ventricular Pseudoaneurysms and Increased Arrhythmogenicity in a Mouse Model of Marfan Syndrome

Steijns

Renard

Vanhomwegen

et al. 2020

IJMS

View full text Add to dashboard Cite

Patients with Marfan syndrome (MFS), a connective tissue disorder caused by pathogenic variants in the gene encoding the extracellular matrix protein fibrillin-1, have an increased prevalence of primary cardiomyopathy, arrhythmias, and sudden cardiac death. We have performed an in-depth in vivo and ex vivo study of the cardiac phenotype of Fbn1mgR/mgR mice, an established mouse model of MFS with a severely reduced expression of fibrillin-1. Using ultrasound measurements, we confirmed the presence of aortic dilatation and observed cardiac diastolic dysfunction in male Fbn1mgR/mgR mice. Upon post-mortem examination, we discovered that the mutant mice consistently presented myocardial lesions at the level of the right ventricular free wall, which we characterized as spontaneous pseudoaneurysms. Histological investigation demonstrated a decrease in myocardial compaction in the MFS mouse model. Furthermore, continuous 24 h electrocardiographic analysis showed a decreased heart rate variability and an increased prevalence of extrasystolic arrhythmic events in Fbn1mgR/mgR mice compared to wild-type littermates. Taken together, in this paper we document a previously unreported cardiac phenotype in the Fbn1mgR/mgR MFS mouse model and provide a detailed characterization of the cardiac dysfunction and rhythm disorders which are caused by fibrillin-1 deficiency. These findings highlight the wide spectrum of cardiac manifestations of MFS, which might have implications for patient care.

show abstract

Section: Discussionmentioning

confidence: 99%

Spontaneous Right Ventricular Pseudoaneurysms and Increased Arrhythmogenicity in a Mouse Model of Marfan Syndrome

Steijns

Renard

Vanhomwegen

et al. 2020

IJMS

View full text Add to dashboard Cite

show abstract

AnFBN1Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?

et al. 2014

View full text Add to dashboard Cite

Marfan syndrome (MFS) is caused by mutations in the FBN1 (fibrillin-1) gene, but approximately 10% of MFS cases remain genetically unsolved. Here, we report a new FBN1 mutation in an MFS family that had remained negative after extensive molecular genomic DNA FBN1 testing, including denaturing high-performance liquid chromatography, Sanger sequencing, and multiplex ligation-dependent probe amplification. Linkage analysis in the family and cDNA sequencing of the proband revealed a deep intronic point mutation in intron 56 generating a new splice donor site. This mutation results in the integration of a 90-bp pseudo-exon between exons 56 and 57 containing a stop codon, causing nonsense-mediated mRNA decay. Although more than 90% of FBN1 mutations can be identified with regular molecular testing at the genomic level, deep intronic mutations will be missed and require cDNA sequencing or whole-genome sequencing.

show abstract

Left ventricular apical aneurysm associated with normal coronary arteries following cardiac surgery: Echocardiographic features and differential diagnosis

Xie¹,

Zhou²,

Cheng³

et al. 2013

International Journal of Cardiology

View full text Add to dashboard Cite

Bilobar apical pseudoaneurysm after left ventricular venting in a Marfan's patient

Cited by 5 publications

References 5 publications

Spontaneous Right Ventricular Pseudoaneurysms and Increased Arrhythmogenicity in a Mouse Model of Marfan Syndrome

Spontaneous Right Ventricular Pseudoaneurysms and Increased Arrhythmogenicity in a Mouse Model of Marfan Syndrome

AnFBN1Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?

Left ventricular apical aneurysm associated with normal coronary arteries following cardiac surgery: Echocardiographic features and differential diagnosis

Contact Info

Product

Resources

About