Left Ventricular Myocardial Noncompaction with Advanced Atrioventricular Conduction Disorder and Ventricular Arrhythmias in a Young Patient: Role of MIB1 Gene

Balla, Cristina; Raffele, Martina De; Deserio, Maria Angela; Sanchini, Mariabeatrice; Farnè, Marianna; Trabanelli, Cecilia; Ragni, Luca; Biffi, Mauro; Ferlini, Alessandra; Rapezzi, Claudio; Gualandi, Francesca; Bertini, Matteo

doi:10.3390/jcdd8090109

Cited by 2 publications

(2 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although these issues did not show a significant relationship with P and VUS genetic mutations, probably due to the small sample size, their importance in long-term outcome and risk stratification was described previously ( 11 , 12 , 14 , 19 , 27 , 28 , 31 , 32 ). Syncope was reported as an early warning sign of ventricular arrhythmias; moreover, some studies revealed the importance of the P genotype in the development of different types of ventricular and supraventricular arrhythmias ( 12 – 14 , 18 , 22 , 31 , 42 ). It was also suggested that repolarization abnormalities indicated by inverted T waves and LBBB also have connections with cardiovascular events ( 12 , 43 – 45 ).…”

Section: Discussionmentioning

confidence: 99%

Genetic, clinical and imaging implications of a noncompaction phenotype population with preserved ejection fraction

Grebur,

Mester,

Fekete

et al. 2024

Front. Cardiovasc. Med.

View full text Add to dashboard Cite

IntroductionThe genotype of symptomatic left ventricular noncompaction phenotype (LVNC) subjects with preserved left ventricular ejection fraction (LVEF) and its effect on clinical presentation are less well studied. We aimed to characterize the genetic, cardiac magnetic resonance (CMR) and clinical background, and genotype-phenotype relationship in LVNC with preserved LVEF.MethodsWe included 54 symptomatic LVNC individuals (LVEF: 65 ± 5%) whose samples were analyzed with a 174-gene next-generation sequencing panel and 54 control (C) subjects. The results were evaluated using the criteria of the American College of Medical Genetics and Genomics. Medical data suggesting a higher risk of cardiovascular complications were considered “red flags”.ResultsOf the LVNC population, 24% carried pathogenic or likely pathogenic (P) mutations; 56% carried variants of uncertain significance (VUS); and 20% were free from cardiomyopathy-related mutations. Regarding the CMR parameters, the LVNC and C groups differed significantly, while the three genetic subgroups were comparable. We found a significant relationship between red flags and genotype; furthermore, the number of red flags in a single subject differed significantly among the genetic subgroups (p = 0.002) and correlated with the genotype (r = 0.457, p = 0.01). In 6 out of 7 LVNC subjects diagnosed in childhood, P or VUS mutations were found.DiscussionThe large number of P mutations and the association between red flags and genotype underline the importance of genetic-assisted risk stratification in symptomatic LVNC with preserved LVEF.

show abstract

Section: Discussionmentioning

confidence: 99%

Genetic, clinical and imaging implications of a noncompaction phenotype population with preserved ejection fraction

Grebur,

Mester,

Fekete

et al. 2024

Front. Cardiovasc. Med.

View full text Add to dashboard Cite

show abstract

“…Variants in MIB1 are associated with LVNC, but patient s31, carrying the variant MIB1 :c.376C>T, displayed a typical LV form of ACM, with extensive fibro-adipose substitution LV free wall and enlarged LV without trabeculation [ 41 , 42 ].…”

Section: Discussionmentioning

confidence: 99%

Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients

et al. 2022

View full text Add to dashboard Cite

Arrhythmogenic cardiomyopathy (ACM) is a rare inherited disorder, whose genetic cause is elusive in about 50–70% of cases. ACM presents a variable disease course which could be influenced by genetics. We performed next-generation sequencing on a panel of 174 genes associated with inherited cardiovascular diseases on 82 ACM probands (i) to describe and classify the pathogenicity of rare variants according to the American College of Medical Genetics and Genomics both for ACM-associated genes and for genes linked to other cardiovascular genetic conditions; (ii) to assess, for the first time, the impact of common variants on the ACM clinical disease severity by genotype-phenotype correlation and survival analysis. We identified 15 (likely) pathogenic variants and 66 variants of uncertain significance in ACM-genes and 4 high-impact variants in genes never associated with ACM (ABCC9, APOB, DPP6, MIB1), which deserve future consideration. In addition, we found 69 significant genotype-phenotype associations between common variants and clinical parameters. Arrhythmia-associated polymorphisms resulted in an increased risk of arrhythmic events during patients’ follow-up. The description of the genetic framework of our population and the observed genotype-phenotype correlation constitutes the starting point to address the current lack of knowledge in the genetics of ACM.

show abstract

Left Ventricular Myocardial Noncompaction with Advanced Atrioventricular Conduction Disorder and Ventricular Arrhythmias in a Young Patient: Role of MIB1 Gene

Cited by 2 publications

References 16 publications

Genetic, clinical and imaging implications of a noncompaction phenotype population with preserved ejection fraction

Genetic, clinical and imaging implications of a noncompaction phenotype population with preserved ejection fraction

Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients

Contact Info

Product

Resources

About