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Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction
Keiichi Hirono1, Yukiko Hata2, Teruhiko Imamura3
1Department of Pediatrics, Faculty of Medicine University of Toyama Japan.
Insights
Biventricular noncompaction (BiVNC) in children presents with frequent ventricular dyskinesis and a poor prognosis. Genetic screening reveals mitochondrial and developmental gene variants, highlighting BiVNC as a significant cardiac phenotype.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Left ventricular noncompaction (LVNC) is a hereditary cardiomyopathy.
- Detailed characteristics of biventricular noncompaction (BiVNC) are not well understood.
- This study focuses on elucidating the clinical and genetic aspects of BiVNC in pediatric patients.
Purpose of the Study:
- To investigate the clinical characteristics of pediatric patients with BiVNC.
- To identify the genetic landscape associated with BiVNC.
- To determine the outcomes and survival rates in pediatric BiVNC cases.
Main Methods:
- Recruited pediatric patients with LVNC from Japanese multi-institutional centers (2013-2021).
- Classified LVNC into BiVNC, congenital heart disease, arrhythmia, dilated cardiomyopathy, or normal function groups.
- Screened for cardiomyopathy-associated genes in enrolled patients.
Main Results:
- 234 patients were enrolled; 25 had BiVNC.
- BiVNC was frequently diagnosed in the perinatal period and often associated with congenital heart disease.
- Left ventricular dyskinesis was common, and 44% of BiVNC patients had pathogenic variants in mitochondrial and developmental genes.
- BiVNC group showed the worst survival rate (P=0.0009).
Conclusions:
- Pediatric BiVNC is characterized by high rates of ventricular dyskinesis and poor outcomes.
- Genetic screening for disease-causing genes is crucial for identifying BiVNC patients.
- Early identification and management of BiVNC are essential for improving patient survival and cardiac phenotypes.
Background:
Left ventricular noncompaction (LVNC) is a hereditary type of cardiomyopathy characterized by prominent trabeculations. Detailed characteristics of biventricular noncompaction (BiVNC) remain unknown. This study aimed to elucidate the clinical characteristics and genetic landscape of BiVNC.
Methods And Results:
We recruited children with left ventricular noncompaction from Japanese multi-institutional centers from 2013 to 2021. Left ventricular noncompaction was classified as BiVNC, congenital heart disease, arrhythmia, dilated cardiomyopathy, or normal function. In these patients, cardiomyopathy-associated genes were screened. A total of 234 patients (127 male; mean age, 4 months [range, 0-6.6 years]) were enrolled in this study, of whom 25 had BiVNC; 55, normal function; 84, dilated cardiomyopathy; 38, congenital heart disease; and 32, arrhythmia. BiVNC was diagnosed during the perinatal period in 10 patients, in whom the prevalence was higher than that in other patients. A total of 14 patients in the group with BiVNC had congenital heart disease, but not necessarily right heart lesions. Left ventricular dyskinesis was frequently observed in the lateral wall (24%) and apex (28%). Eleven pathogenic variants were found in 11 patients with BiVNC (44.0%). The group with BiVNC had a higher ratio of mitochondrial and developmental gene variants than the other groups. Among all groups, the group with BiVNC had the worst survival rate (P=0.0009).
Conclusions:
Pediatric patients with BiVNC had a high rate of ventricular dyskinesis and poor outcome. A comprehensive and careful screening for disease-causing genes and phenotype may help identify specific patients with left ventricular noncompaction and mortality-related cardiac phenotypes.
