Spectrum of Clinical Features and Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children

Agata Paszkowska,Alicja Mirecka-Rola,Lidia Ziółkowska,Łukasz Mazurkiewicz,Katarzyna Bieganowska,Elżbieta Ciara,Dorota Piekutowska-Abramczuk

doi:10.3390/cardiogenetics11040020

Agata Paszkowska, Alicja Mirecka-Rola + Show 5 more

Open Access

https://doi.org/10.3390/cardiogenetics11040020

Copy DOI

Abstract

Background: Left ventricular noncompaction (LVNC) is a genetically determined cardiomyopathy that occurs following a disruption of endomyocardial morphogenesis. The purpose of this study was to identify the clinical characteristics and genetic profile of children with LVNC. Methods: From February 2008 to July 2020, a total of 32 children (median 11.5 years) with LVNC were prospectively enrolled and followed up for a median of 4.02 years. Diagnosis was made based on characteristic features of LVNC in echocardiography and cardiovascular magnetic resonance (CMR). Patients’ clinical symptoms, family history, ECG, Holter ECG, and genetic tests were also evaluated. Results: The most common presenting symptom was heart failure (31% of children). ECG abnormalities were noted in 56% of patients. The most prominent features were ventricular arrhythmias, sinus bradycardia, and paroxysmal third-degree atrioventricular block. Most of the patients (94%) met the criteria for LVNC and CMR confirmed this diagnosis in 82% of cases. The molecular etiology was found in 53% of children. Conclusion: Although heart failure and arrhythmias were very frequent in our study group, thromboembolic events and genetic syndromes were rare. For the accurate and reliable assessment of children with LVNC, it is necessary to get to know their family history and detailed clinical profile.

Highlights

Left ventricular noncompaction cardiomyopathy (LVNC) is a genetically determined myocardial disease, the third most common cardiomyopathy in the pediatric population [1]
Due to advanced diagnostic tools, LVNC is a genetically determined cardiomyopathy that is being diagnosed with increasing frequency
The variability in phenotypic expression and the lack of standard diagnostic criteria for the pediatric population make it difficult to estimate the frequency of this form of cardiomyopathy in children

Summary

Introduction

Left ventricular noncompaction cardiomyopathy (LVNC) is a genetically determined myocardial disease, the third most common cardiomyopathy in the pediatric population (after dilated and hypertrophic cardiomyopathy) [1]. Molecular studies confirm the genetic basis in approximately 40% of LVNC patients [2]. The clinical presentation of LVNC varies widely, ranging from asymptomatic cases to severe heart failure, arrhythmias, thromboembolic complications, and sudden cardiac death [3,4]. Heart failure is the most common clinical symptom, occurring in approximately 55% of patients with LVNC [5]. Left ventricular (LV) systolic dysfunction, arrhythmias, and blood stasis in the recesses of the myocardium predispose to thromboembolic events [6,7,8]. Therapeutic management includes the treatment of heart failure, cardiac arrhythmias and thromboembolic complications

Objectives

Methods

Results

Conclusion