Causative mutations for familial dilated cardiomyopathy (DCM) have been identified in the phospholamban gene. There are many poorly understood aspects about familial DCM (variable penetrance, expression) which may be studied in natural animal models. We characterized genetic aspects of familial DCM in a canine model with a high incidence of sudden death. A missense G > A mutation in exon 1 of the phospholamban gene that changed an amino acid from arginine to histidine was identified in affected dogs. This variant was predicted to be deleterious. We describe a spontaneous canine model of familial DCM and sudden death with the R9H mutation. In comparison to a reported human family, the variant was highly penetrant and resulted in sudden death. Genetic penetrance of this mutation may be influenced by genetic or environmental modifiers. The dog provides an excellent model in which to study complex aspects of familial DCM.
Objectives: To present cases of rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) and discuss management insights.
Methods: Case records of patients fulfilling the criteria for ROHHAD and presenting to the Pediatric Endocrinology Division of All India Institute of Medical Sciences, New Delhi, between July 2019 and June 2024 were reviewed for clinical features, treatments, and outcomes.
Results: Five patients (4 boys, 1 girl) presented at a median age of 4 y (range 3.
Background: Concurrent ST-elevation myocardial infarction (STEMI) and acute ischemic stroke (AIS) are extremely rare, and their management remains perplexing due to the absence of high-quality evidence and limited resources. For the first time, we report a rare, preventable, and suboptimally managed case of concurrent AIS and STEMI in a patient with non-Hodgkin lymphoma (NHL) who received cyclophosphamide, doxorubicin, vincristine, and prednisolone (CHOP) chemotherapy.
Case Presentation: A 59-year-old postmenopausal woman of African origin with a background history of type 2 diabetes mellitus presented to the Jakaya Kikwete Cardiac Institute with sudden onset of left-sided weakness and typical ischemic chest pain for 3 days.
This systematic review provides a comprehensive comparison of beta-blockers and angiotensin-converting enzyme (ACE) inhibitors in the management of chronic heart failure (CHF), with a focus on their long-term efficacy and safety profiles. By synthesizing evidence from randomized controlled trials (RCTs) and clinical studies, the review highlights the significant benefits of both drug classes in reducing mortality and hospital readmissions, and improving patient outcomes. Beta-blockers, such as bisoprolol and carvedilol, demonstrated superior efficacy in reducing sudden cardiac death, particularly in patients with heart failure with reduced ejection fraction (HFrEF).
Introduction: Out-of-hospital cardiac arrest (OHCA) is characterized by the cessation of mechanical cardiac activity and voluntary circulation occurring outside of a hospital setting, making it the leading cause of death worldwide. Recently, the optimal approach to airway management has been a subject of controversy.
Methods: Follow PRISMA guidelines for systematic evaluation and meta-analysis.
