Echocardiography in the diagnosis of apical non-compaction associated with congenital heart diseases

Vijayalakshmi, IB; Narasimhan, Chitra; Mahapatra, A. K.; Manjunath, CN

doi:10.1007/s12574-013-0202-0

J Echocardiogr

2013

DOI: 10.1007/s12574-013-0202-0

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Echocardiography in the diagnosis of apical non-compaction associated with congenital heart diseases

IB Vijayalakshmi

Chitra Narasimhan

A. K. Mahapatra

et al.

Abstract: All of the apical non-compaction syndrome cases had associated lesions, mostly acyanotic congenital heart disease with volume overload, rather than obstructive lesions. Transthoracic echocardiography plays an important role in the diagnosis of apical non-compaction syndrome and associated lesions that worsen the pump failure.

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2024

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Cited by 1 publication

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Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction

Hirono,

Hata,

Imamura

et al. 2024

JAHA

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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.

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Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction

Hirono,

Hata,

Imamura

et al. 2024

JAHA

View full text Add to dashboard Cite

show abstract

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Echocardiography in the diagnosis of apical non-compaction associated with congenital heart diseases

Cited by 1 publication

References 15 publications

Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction

Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction

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