Introduction: Arrhythmogenic right ventricular dysplasia is a heritable disease of the heart muscle characterized by fibrofatty degeneration of cardiomyocytes. Patients present with ventricular arrhythmias or congestive heart failure, and sometimes sudden cardiac death occurs. Prenatal diagnosis has become possible with the detection of mutations, but, to the best of our knowledge, no case of prenatal diagnosis has been reported previously. There is little information about the management of arrhythmogenic right ventricular dysplasia in pregnancy, and the preferred mode of delivery is not certain; therefore, we present the case of a patient with arrhythmogenic right ventricular dysplasia and discuss the prenatal diagnosis, patient management and prognosis in pregnancy.
Case Presentation: A 26-year-old Caucasian woman who presented to our hospital with heart palpitations was diagnosed with arrhythmogenic right ventricular dysplasia, and, after three years of follow up with anti-arrhythmic drugs, she wanted to conceive. During pregnancy, she ceased taking her medication. She tolerated pregnancy very well but her cardiac symptoms recurred after her 30th week of pregnancy. She delivered a baby via cesarean section under general anesthesia in her 38th week of pregnancy. She was discharged without any medications and continued lactation for six months.
Conclusion: Patients with mild to moderate arrhythmogenic right ventricular dysplasia tolerate pregnancy and breastfeeding very well, but patients with end-stage arrhythmogenic right ventricular dysplasia should be discouraged from conception.
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http://dx.doi.org/10.1186/1752-1947-5-300 | DOI Listing |
Curr Med Chem
January 2025
Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Department of Gastrointestinal Oncology, Peking University Cancer Hospital and Institute, Beijing, 100142, China.
Background: Resistance to lenvatinib poses a serious threat to the therapy of patients with Hepatocellular Carcinoma (HCC). The mechanism by which HCC develops resistance to lenvatinib is currently unknown.
Objective: The aim of this study was to identify key genes and pathways involved in lenvatinib resistance in HCC using bioinformatic analysis and experimental validation.
Heart
January 2025
Department of Cardiology, University Hospital Zurich, Zurich, Switzerland
Background: Cardiac sarcoidosis (CS) is a chronic inflammatory disease characterised by non-caseating granulomas, while arrhythmogenic cardiomyopathy (ACM) is a genetic condition mainly affecting desmosomal proteins. The coexistence of CS and genetic variants associated with ACM is not well understood, creating challenges in diagnosis and management. This study aimed to describe the clinical, imaging and genetic features of patients with both conditions.
View Article and Find Full Text PDFComput Methods Programs Biomed
January 2025
Department of Physiology II, Kanazawa Medical University, Uchinada 920-0293, Japan. Electronic address:
Background And Objective: It has been believed that polymorphic ventricular tachycardia (VT) such as torsades de pointes (TdP) seen in patients with long QT syndromes is triggered by creating early afterdepolarization (EAD)-mediated triggered activity (TA). Although the mechanisms creating the TA have been studied intensively, characteristics of the arrhythmogenic (torsadogenic) substrates that link EAD developments to TA formation are still not well understood.
Methods: Computer simulations of excitation propagation in a homogenous two-dimensional ventricular tissue with an anisotropic conduction property were performed to characterize torsadogenic substrates that potentially form TA.
Acta Physiol (Oxf)
February 2025
Department of Biochemistry, Cell and Systems Biology, Institute of Systems, Molecular and Integrative Biology, Faculty of Health and Life Sciences, University of Liverpool, Liverpool, UK.
Aim: Long QT syndrome (LQTS) and catecholaminergic polymorphism ventricular tachycardia (CPVT) are inherited cardiac disorders often caused by mutations in ion channels. These arrhythmia syndromes have recently been associated with calmodulin (CaM) variants. Here, we investigate the impact of the arrhythmogenic variants D131E and Q135P on CaM's structure-function relationship.
View Article and Find Full Text PDFJACC Case Rep
January 2025
Division of Cardiology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Structural abnormalities within the right ventricular outflow tract (RVOT) can present similarly to Brugada syndrome. A 34-year-old woman with no medical history presented with polymorphic ventricular tachycardia/ventricular fibrillation cardiac arrest and initial electrocardiogram showed type I Brugada pattern. Cardiac magnetic resonance imaging revealed prominent tissue thickening at the RVOT with late gadolinium enhancement.
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