Objective: Left ventricular non-compaction (LVNC) is morphologically characterised by excessive trabeculations and deep recesses in the ventricular wall. The risk of thromboembolic disease in the paediatric patients with LVNC has not been clearly established. We conducted this systematic review to evaluate the prevalence and incidence of thromboembolism (TE) in paediatric and adult patients with LVNC and searched for risk factors for TE to explore management strategies.
Methods: The primary outcome was the prevalence and incidence of TE in the patients with LVNC. The secondary outcome was the TE and mortality and heart transplantation rates between paediatric and adult patients with LVNC. We searched for studies published in MEDLINE, Embase and Cochrane Central Register of Controlled Trials between January 1950 and December 2020. A systematic search of keywords related to LVNC, anticoagulants/antiplatelets and TE was conducted. Studies that did not present original research, non-human studies, duplicated studies were excluded.
Results: Fifty-seven studies met the inclusion criteria. A total of 726 paediatric and 3862 adult patients were included. The mean prevalence rates of TE in the paediatric and adult patients with LVNC were 2.6% and 6.2% (I=0%; p<0.450 and I=73.7%; p<0.001), respectively. The mean annual incidences of TE in paediatric and adult patients with LVNC were 1.4% and 2.9% (I=99.4%; p<0.001 and I=99.5%; p<0.001), respectively. Multivariate logistic regression analysis showed that TE was associated with left ventricular ejection fraction in <40% of paediatric patients (OR, 9.47; 95% CI, 1.35 to 188.23; p=0.0225).
Conclusions: The prevalence and incidence rates in paediatric patients were lower than those in adult patients. TE was associated with a reduced systolic function in paediatric patients with LVNC.
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http://dx.doi.org/10.1136/openhrt-2021-001908 | 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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