Sudden death of a preschool child diagnosed by postmortem examination
| Autor: | Masayuki Nata, Shuji Kozawa |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Male
medicine.medical_specialty Hypertension Pulmonary Autopsy Pulmonary Edema Bone Morphogenetic Protein Receptors Type II Sudden death Pathology and Forensic Medicine 03 medical and health sciences Death Sudden 0302 clinical medicine Right ventricular hypertrophy Internal medicine medicine.artery medicine Humans 030216 legal & forensic medicine 030212 general & internal medicine Lung Cause of death Preschool child Hypertrophy Right Ventricular business.industry Myocardium General Medicine Organ Size medicine.disease Trunk medicine.anatomical_structure Child Preschool Pulmonary artery Mutation Cardiology business Law |
| Zdroj: | Journal of forensic and legal medicine. 66 |
| ISSN: | 1878-7487 |
| Popis: | An autopsy case of sudden death due to pulmonary arterial hypertension (PAH) in a 5-year-old boy whose cause of death was not determined during autopsy, but was later determined by postmortem examination, is presented. The boy developed convulsions that subsequently stopped, but remained unconscious. He was transported to hospital by ambulance, but died soon after. The boy had been found to have right ventricular overload on ECG 2 weeks earlier. A plan had been made to consult a doctor for a specialist visit 2 months later. During autopsy, significant abnormalities or injuries were not observed on the body's external surface. Internal examination showed congested organs, and the blood remaining in the body was dark red with fluidity. The heart was significantly enlarged (146 g), with nearly equivalent thickness of the left and right ventricles, showing right ventricular hypertrophy. Obvious macroscopic abnormalities were not observed at the origin and main trunk of the pulmonary artery. The lungs were slightly swollen (right lung 100 g, left lung 95 g), severely congested, and edematous. A postmortem CT scan displayed some patchy shadows in both lungs; however, no significant abnormalities were detected. Histopathological examination suggested a diagnosis of PAH. Three genes (BMPR2, ALK1, and ENG) were tested, revealing a heterozygous insertion of five nucleotides, TTTCC, between nucleotides 2677 and 2678 within exon 12 of the BMPR2 gene. Therefore, the subject was considered to have had heritable PAH due to a BMPR2 gene mutation. |
| Databáze: | OpenAIRE |
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