Objectives: The objective of this meta-analysis was to assess the predictive value of late gadolinium enhancement (LGE) and global systolic impairment for future major adverse cardiovascular events in left ventricular noncompaction (LVNC).
Background: The prognosis of patients with LVNC, with and without left ventricular dysfunction and LGE, is still unclear.
Methods: A systematic review of published research and a meta-analysis reporting a combined endpoint of hard (cardiac death, sudden cardiac death, appropriate defibrillator firing, resuscitated cardiac arrest, cardiac transplantation, assist device implantation) and minor (heart failure hospitalization and thromboembolic events) events was performed.
Results: Four studies with 574 patients with LVNC and 677 with no LVNC and an average follow-up duration of 5.2 years were analyzed. In patients with LVNC, LGE was associated with the combined endpoint (pooled odds ratio: 4.9; 95% confidence interval: 1.63 to 14.6; p = 0.005) and cardiac death (pooled odds ratio: 9.8; 95% confidence interval: 2.44 to 39.5; p < 0.001). Preserved left ventricular systolic function was found in 183 patients with LVNC: 25 with positive LGE and 158 with negative LGE. In LVNC with preserved ejection fraction, positive LGE was associated with hard cardiac events (odds ratio: 6.1; 95% confidence interval: 2.1 to 17.5; p < 0.001). No hard cardiac events were recorded in patients with LVNC, preserved ejection fraction, and negative LGE.
Conclusions: Patients with LVNC but without LGE have a better prognosis than those with LGE. When LGE is negative and global systolic function is preserved, no hard cardiac events are to be expected. Currently available criteria allow diagnosis of LVNC, but to further define the presence and prognostic significance of the disease, LGE and/or global systolic impairment must be considered for better risk stratification.
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http://dx.doi.org/10.1016/j.jcmg.2018.12.029 | DOI Listing |
Eur J Med Genet
December 2024
CHU Lille, Institut de Génétique Médicale, F-59000 Lille, France; Univ. Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, F-59000 Lille, France. Electronic address:
The X-linked NONO gene encodes Non-Pou Domain-Containing Octamer-Binding Protein, a multifunctional member of the DBHS family involved in transcriptional regulation, RNA splicing and DNA repair. Pathogenic variants in NONO cause Intellectual Developmental Disorder, X-linked Syndromic (MIM #300967), characterised by intellectual disability, neurodevelopmental delay, cardiomyopathy, such as left ventricular non-compaction (LVNC), and congenital heart defects such as including atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), and patent foramen ovale (PFO). This study reports three new patients with pathogenic hemizygous frameshift variants in NONO identified with exome sequencing, broadening the clinical presentation.
View Article and Find Full Text PDFBiomolecules
November 2024
Cardiogenetic Center, Rare Diseases and Medical Genetics Units, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Inherited cardiac channelopathies are major causes of sudden cardiac death (SCD) in young people. Genetic testing is focused on the identification of single-nucleotide variants (SNVs) by Next-Generation Sequencing (NGS). However, genetically elusive cases can carry copy number variants (CNVs), which need specific detection tools.
View Article and Find Full Text PDFQuant Imaging Med Surg
October 2024
Institute of Medical Sciences, Jan Kochanowski University, Kielce, Poland.
Background: Left ventricular non-compaction (LVNC) is still a pathology around which there are numerous controversies regarding the criteria for its diagnosis, presentation, prognosis, and even classification into the appropriate group of diseases. So far, about 190 genes in which mutations may be associated with LVNC have been described, and in each of them, several to several dozen different have been discovered. We decided to analyze the frequency of single nucleotide variants (SNVs) in correlation to Petersen's criteria.
View Article and Find Full Text PDFCardiol Res
October 2024
Medical School, Pontifical Catholic University of Ecuador, Quito, Ecuador.
Background: Left ventricular noncompaction (LVNC) is recognized within the spectrum of adult cardiomyopathies for its unique pathophysiologic features and clinical challenges. This condition exhibits a wide range of clinical manifestations, from asymptomatic states to severe cardiovascular complications, making its diagnosis and management challenging. This study aimed to synthesize current data on the prevalence, diagnostic methods, clinical outcomes, and treatment efficacy of LVNC in adults to address gaps in understanding and management strategies.
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