Pulmonary arteriovenous malformations (PAVMs) are abnormal vascular connections between pulmonary arteries and veins, often associated with hereditary hemorrhagic telangiectasia (HHT). Most PAVMs are asymptomatic, but life-threatening complications like pulmonary hemorrhage, brain abscesses, and paradoxical emboli can emerge, so prompt diagnosis and treatment are crucial. We report a case of sudden pediatric death in a two-year-old female with no past medical history. Initial vomiting and fast deterioration resulted in a sudden cardiac arrest. The postmortem examination found histological evidence of consistent, extensive lung damage. The absence of the characteristic symptoms made for some challenges when it came to diagnosis, showing precisely that in early life, you could well have many difficulties in catching PAVMs. This case highlights the need to take PAVMs into account as a potential cause of sudden death, particularly when there are no conspicuous symptoms. Awareness among forensic pathologists and consideration of genetic analysis for HHT in such cases is crucial for accurate diagnosis and management.
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http://dx.doi.org/10.4322/acr.2024.489 | DOI Listing |
Int J Cardiol
December 2024
Department of Cardiology, Cardiovascular Institute, Thorax Center, Department of Cardiology, Erasmus Medical Center, Rotterdam, the Netherlands.
Aims: (i) Investigate the prevalence of hypertrophic cardiomyopathy (HCM) in individuals with pathogenic/likely pathogenic (P/LP) gene variants detected through family cascade testing in relatives, and (ii) evaluate phenotypic progression in genotype-positive phenotype-negative (G+/P-) individuals during follow-up.
Results: From 2000 to 2023, 273 individuals underwent cardiologic evaluation following P/LP variant detection through family screening. Upon initial evaluation, HCM was diagnosed in 128 (47 %) individuals.
Kardiol Pol
January 2025
1st Department of Cardiology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.
Environ Res
December 2024
Univ Rennes, CHU Rennes, Inserm, Irset (Research Institute for Environmental & Occupational Health) UMR 1085, Rennes, France.
Am J Perinatol
December 2024
Mount Sinai Hospital Pediatrics, TORONTO, Canada.
Background Neonatal vascular air embolism is a rare but often fatal condition. The literature comprises mostly case reports and a few dated systematic reviews. Our objective was to review all case reports of neonatal vascular air embolism to date, and provide up-to-date information about patient characteristics, clinical presentations, outcomes, pathogenesis, diagnosis, prevention, treatment and prognosis.
View Article and Find Full Text PDFPediatrics
January 2025
Robert's Program on Sudden Unexpected Death in Pediatrics, Division of General Pediatrics, Boston Children's Hospital, Boston, Massachusetts.
Background And Objectives: A death scene investigation is required to determine sudden infant death syndrome, and a doll reenactment optimizes the information obtained. The aim of this study was to explore how acutely bereaved parents experience doll reenactments that are conducted after the sudden and unexpected deaths of their infants.
Methods: A mixed-methods design, including surveys and semi-structured interviews, was used in a cross-sectional, national study to explore the experiences of doll reenactment among 45 bereaved parents.
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