Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

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

Version 1 : Received: 8 June 2021 / Approved: 10 June 2021 / Online: 10 June 2021 (08:06:33 CEST)

A peer-reviewed article of this Preprint also exists.

Paszkowska, A.; Mirecka-Rola, A.; Piekutowska-Abramczuk, D.; Ciara, E.; Mazurkiewicz, Ł.; Bieganowska, K.; Ziółkowska, L. Spectrum of Clinical Features and Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children. Cardiogenetics 2021, 11, 191-203. Paszkowska, A.; Mirecka-Rola, A.; Piekutowska-Abramczuk, D.; Ciara, E.; Mazurkiewicz, Ł.; Bieganowska, K.; Ziółkowska, L. Spectrum of Clinical Features and Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children. Cardiogenetics 2021, 11, 191-203.

Journal reference: Cardiogenetics 2021, 11, 20
DOI: 10.3390/cardiogenetics11040020

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 the 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 accurate and reliable assessment of children with LVNC, it is necessary to get to know their family history and detailed clinical profile.

Keywords

left ventricular noncompaction; cardiomyopathy; heart failure; arrhythmia; conduction disturbances; molecular etiology; children

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