HedCancers 2021, 13,13 ofAuthor Contributions: Conceptualization and methodology, C.P. and D.C.
HedCancers 2021, 13,13 ofAuthor Contributions: Conceptualization and methodology, C.P. and D.C.; GYY4137 Autophagy investigation, E.C., M.G. and S.Z.; information curation and writing–original draft preparation, E.C., M.G., S.Z., C.P. and D.C.; writing–review and editing and supervision, C.P. and D.C. All authors have read and agreed for the published version on the manuscript. Funding: This study received no external funding. Conflicts of Interest: The authors declare no conflict of interest.
ArticleSpectrum of Clinical Capabilities and Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in ChildrenAgata Paszkowska 1 , Alicja Mirecka-Rola 1 , Dorota Piekutowska-Abramczuk two , El bieta Ciara two , z Lukasz Mazurkiewicz three , Katarzyna Bieganowska 1 and Lidia Zi kowska 1, Department of Cardiology, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland; [email protected] (A.P.); [email protected] (A.M.-R.); [email protected] (K.B.) Division of Medical Genetics, The Children’s Memorial Well being Institute, 04-730 Warsaw, Poland; [email protected] (D.P.-A.); [email protected] (E.C.) Departmentof Cardiomyopathies, Cardiovascular 20(S)-Hydroxycholesterol Endogenous Metabolite magnetic Resonance Unit, National Institute of Cardiology, 04-682 Warsaw, Poland; [email protected] Correspondence: [email protected]; Tel.: 48-22-Citation: Paszkowska, A.; Mirecka-Rola, A.; Piekutowska-Abramczuk, D.; Ciara, E.; Mazurkiewicz, L.; Bieganowska, K.; Zi kowska, L. Spectrum of Clinical Characteristics and Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children. Cardiogenetics 2021, 11, 19103. https://doi.org/10.3390/ cardiogenetics11040020 Academic Editor: George E. Louridas Received: eight June 2021 Accepted: 18 October 2021 Published: 22 OctoberAbstract: Background: Left ventricular noncompaction (LVNC) is really a genetically determined cardiomyopathy that occurs following a disruption of endomyocardial morphogenesis. The goal of this study was to determine the clinical traits and genetic profile of kids with LVNC. Procedures: From February 2008 to July 2020, a total of 32 youngsters (median 11.5 years) with LVNC had been prospectively enrolled and followed up for a median of 4.02 years. Diagnosis was made according to characteristic functions of LVNC in echocardiography and cardiovascular magnetic resonance (CMR). Patients’ clinical symptoms, loved ones history, ECG, Holter ECG, and genetic tests were also evaluated. Results: Probably the most frequent presenting symptom was heart failure (31 of kids). ECG abnormalities have been noted in 56 of patients. One of the most prominent features had been ventricular arrhythmias, sinus bradycardia, and paroxysmal third-degree atrioventricular block. The majority of the patients (94 ) met the criteria for LVNC and CMR confirmed this diagnosis in 82 of circumstances. The molecular etiology was located in 53 of young children. Conclusion: While heart failure and arrhythmias have been quite frequent in our study group, thromboembolic events and genetic syndromes had been uncommon. For the accurate and trustworthy assessment of kids with LVNC, it can be essential to get to understand their loved ones history and detailed clinical profile. Key phrases: left ventricular noncompaction; cardiomyopathy; heart failure; arrhythmia; conduction disturbances; molecular etiology; children1. Introduction Left ventricular noncompaction cardiomyopathy (LVNC) can be a genetically determined myocardial disease, the third most common cardiomyopathy inside the pediatric population (immediately after dilated and hypertrophic cardiomyopathy) [1]. Molecular stu.