Non-compaction cardiomyopathy (NCM) is rare congenital cardiomyopathy characterized on cardiac imaging by a two-layered ventricular wall with prominent trabeculations and intertrabecular recesses. This case highlights a patient in his fifth decade who presented from an outpatient setting for abnormal findings found on a transthoracic echocardiogram for syncopal workup. Cardiac MRI was consistent with non-compaction cardiomyopathy. A loop recorder then inserted, and he was placed on guideline-directed therapy for heart failure with reduced ejection fraction (HFrEF) and discharged with life vest since left ventricular ejection fraction (LVEF) > 35%. There are many areas of controversies in NCM, such as prevalence, diagnostic criteria, clinical features, prognosis, and management strategy. We will discuss the etiology, diagnostic criteria, and management. Physicians should be aware of NCM diagnosis when a patient presents with heart failure and structural heart changes on imaging despite the age. Cardiac magnetic resonance imaging (CMRI) is the best diagnostic modality. Patients should be recognized and started on proper management to prevent complications.
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http://dx.doi.org/10.7759/cureus.5107 | DOI Listing |
Sci Rep
January 2025
Department of Cardiovascular Surgery, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, 710061, People's Republic of China.
This study aims to develop a nomogram prediction model for assessing the cardiogenic composite endpoint, which includes intracardiac thrombosis (ICT) combined with heart failure (HF) in patients with non-compaction cardiomyopathy (NCM) patients. We retrospectively analyzed clinical data from NCM patients (January 2018 to May 2024), who were randomly assigned to training and validation cohorts. Independent predictors were identified using logistic regression, and a nomogram model was developed.
View Article and Find Full Text PDFJ Cardiovasc Electrophysiol
January 2025
Department of Cardiology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China.
Ryanodine receptor 2 (RyR2) protein, a calcium ion release channel in the sarcoplasmic reticulum (SR) of myocardial cells, plays a crucial role in regulating cardiac systolic and diastolic functions. Mutations in RyR2 and its dysfunction are implicated in various congenital heart diseases (CHDs). Studies have shown that mutations in the RYR2 gene, which encodes the RyR2 protein, are linked to several cardiac arrhythmias, including catecholaminergic polymorphic ventricular tachycardia (CPVT), long QT syndrome (LQTS), calcium release deficiency syndrome (CRDS), and atrial fibrillation (AF).
View Article and Find Full Text PDFJ Clin Med
January 2025
Hospital Virgen de la Arrixaca, 30120 Murcia, Spain.
Accurate segmentation of the left ventricular myocardium in cardiac MRI is essential for developing reliable deep learning models to diagnose left ventricular non-compaction cardiomyopathy (LVNC). This work focuses on improving the segmentation database used to train these models, enhancing the quality of myocardial segmentation for more precise model training. We present a semi-automatic framework that refines segmentations through three fundamental approaches: (1) combining neural network outputs with expert-driven corrections, (2) implementing a blob-selection method to correct segmentation errors and neural network hallucinations, and (3) employing a cross-validation process using the baseline U-Net model.
View Article and Find Full Text PDFFront Transplant
December 2024
Pediatric Cardiology and Adult with Congenital Heart Disease Unit, Instituto do Coração (InCor) do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Background: Cardiomyopathy is a disease that affects the myocardium and can be classified as dilated, restrictive, or hypertrophic cardiomyopathy. Among the subtypes, restrictive cardiomyopathy is characterized by restriction of ventricular filling and its uncommon cause is a disease due to mutation on Filamin C (FLNC) gene. Filamin C is an actin-binding protein encoded by FLNC gene and participates in sarcomere stability maintenance, which is expressed on the striated muscle.
View Article and Find Full Text PDFJ Vet Cardiol
December 2024
Department of Diagnostic Imaging, The Animal Hospital at Murdoch University, Perth, WA, Australia.
Two juvenile (five- and 10-month-old), male, neutered, Jack Russel terrier cross dogs, each presented primarily for respiratory signs of varying severity, were included in the study. The first presented for coughing and weakness, and the other presented in respiratory distress. A cardiac murmur was absent in both.
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