[Cystic tumour of the atrioventricular node in a nine year-old girl]. / Cystisk tumor i atrioventrikulærknuden som dødsårsag hos en niårig pige.

Cystic tumour of the atrioventricular node (CTAVN) is a rare type of cardiac tumour. We report a case of a previously healthy nine year-old girl, presenting with syncope caused by complete AV block. Despite intensive treatment, she died of multiple organ failure after two days. Infectious and congenital AV block were ruled out. Histology of the conduction system showed that a microscopic CTAVN was the cause of death. CTAVN is a rare cause of AV block and cardiac arrest, but should be considered in cases of unexplained death.

[Overlooked Wolff-Parkinson-White syndrome]. / Overset Wolff-Parkinson-White-syndrom.

An autopsy in a 28-year-old man did not explain the cause of sudden unexpected death. However, a history of episodes with tachycardia and dizziness and a reassessed previous electrocardiogram exhibiting ventricular pre-excitation was consistent with Wolff-Parkinson-White (WPW) syndrome. In this patient we believe that the occurrence of atrial fibrillation caused sudden cardiac death from ventricular fibrillation due to a short refractory period of an accessory atrioventricular pathway and a very rapid ventricular rate in atrial fibrillation.

[Sudden unexpected death--hypertrophic cardiomyopathy--genetically verified post-mortem]. / Pludselig uventet død--hypertrofisk kardiomyopati--genetisk verificeret ved obduktionen.

Hypertrophic cardiomyopathy (HCM) may have sudden death as its first presentation. This case presentation describes a 25-year-old man with post-mortem finding of previously unknown left ventricular hypertrophy. Genetic analysis revealed a mutation in the myosin-binding protein C (MYBPC3). Autopsy combined with molecular genetic screening for mutations may give the relatives certainty of cause of death and the opportunity for genetic screening for diagnosis and treatment as well as prevention of sudden cardiac death.

Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential.

Molecular chaperones assist protein folding, and variations in their encoding genes may be disease-causing in themselves or influence the phenotypic expression of disease-associated or susceptibility-conferring variations in many different genes. We have screened three candidate patient groups for variations in the HSPD1 and HSPE1 genes encoding the mitochondrial Hsp60/Hsp10 chaperone complex: two patients with multiple mitochondrial enzyme deficiency, 61 sudden infant death syndrome cases (MIM: #272120), and 60 patients presenting with ethylmalonic aciduria carrying non-synonymous susceptibility variations in the ACADS gene (MIM: *606885 and #201470). Besides previously reported variations we detected six novel variations: two in the bidirectional promoter region, and one synonymous and three non-synonymous variations in the HSPD1 coding region. One of the non-synonymous variations was polymorphic in patient and control samples, and the rare variations were each only found in single patients and absent in 100 control chromosomes. Functional investigation of the effects of the variations in the promoter region and the non-synonymous variations in the coding region indicated that none of them had a significant impact. Taken together, our data argue against the notion that the chaperonin genes play a major role in the investigated diseases. However, the described variations may represent genetic modifiers with subtle effects.

Lemierre syndrome : Three cases of "the forgotten" disease.

Lemierre syndrome is a rare clinical entity involving oropharyngeal infection and anaerobic bacteremia, followed by jugular vein septic thrombophlebitis with embolization and metastatic abscess formation in the lungs, liver, and other organs. Even though it occurs less frequently than in the pre-antibiotic era, it is still important both as a pathologist and as a clinician to recognize the typical presentation because of its lethal potential. Three clinically undiagnosed cases with lethal outcomes are described. All three cases presented as unexpected death, and all were autopsied at the Institute of Forensic Medicine, University of Aarhus.

Three fatal cases of PMA and PMMA poisoning in Denmark.

Paramethoxyamphetamine (PMA) and paramethoxymetamphetamine (PMMA) are methoxylated phenylethylamine derivatives with effects similar to methylenedioxymetamphetamine (MDMA) and sold as such. However, PMA and PMMA are more potent than MDMA, but have a slower onset of action, which encourages users to take more. Three fatal cases involving PMA and PMMA in Denmark in year 2000 are investigated including history, pathological, and toxicological findings. The methods used for extraction, identification, and quantitation of PMA and PMMA are described. In two of the cases, lethal postmortem blood concentrations of PMA and PMMA were determined at 3.4 and 3.3 mg/kg (case 1) and 0.78 and 0.68 mg/kg (case 3), respectively. In addition, other drugs such as MDMA, tetrahydrocannabinol, cocaine, and alcohol were involved in these cases. In the third case, death occurred four days after the ingestion of tablets containing PMA and PMMA, and therefore only low postmortem concentrations of PMA and amphetamine were detected. However, in a serum sample taken at admission to the hospital, PMA and PMMA were found, but not quantitated. It is believed that the cause of death in case 2, multiple-organ failure, was caused by overdoses of PMA and PMMA.