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A 34-year-old man, who was previously fit and healthy, died suddenly on exercise. A post-mortem exam performed by forensic pathologists and a toxicological screening were normal; therefore, the cause of death was suspected to be sudden arrhythmic death syndrome, prompting the need for a molecular autopsy. Screening for genetic variations underlying arrhythmogenic genes by next-generation sequencing highlighted a heterozygous single-nucleotide variant in the exon n. 94 of the ryanodine receptor type 2 gene. This gene, encoding the cardiac ryanodine receptor, is one of the main genetic variants of catecholaminergic polymorphic ventricular tachycardia, estimated to affect 1 in 10,000 individuals. It manifests with syncope, seizures, or sudden death due to exercise- or emotional stress-induced bidirectional or polymorphic ventricular tachycardia, usually in children and young adults with morphologically normal hearts and normal baseline electrocardiograms. Even if this de novo missense mutation has not yet been associated with catecholaminergic polymorphic ventricular tachycardia, it is likely to be a disease-causing variant which leads to a defective protein responsible for disturbed ion flow. [ABSTRACT FROM AUTHOR]

References 1 O'Donnell C, Iles L, Woodford N. Post-mortem CT lung findings at a medicolegal institute in SARS-CoV-2 RT-PCR positive cases with autopsy correlation. B) Postmortem CT (mediastinal window) acquired on the fourth day postmortem, before autopsy. [Extracted from the article]

Cerebral venous sinus thrombosis (CVST) is a rare cerebrovascular condition that affects approximately 5 per 1 million people annually, and develops in 0.5 % of all stroke patients. Herein we report a case involving a 31-year-old woman with CVST. She initially presented with a 2-month history of intermittent headaches at the nape of her neck with cervical pain. Other than these symptoms, she was in apparently good health and was a nonsmoker. She had no children and did not take contraceptives. She became comatose with unequal pupil size and CVST was diagnosed. An autopsy revealed CVST that extended from the confluence of the sinuses to the transverse sinuses and tip of the superior sagittal sinus, as well as a thrombus that obstructed the right internal jugular vein. A correct and early diagnosis of CVST combined with heparin-based therapy and/or interventional endovascular strategies may be of benefit by preventing intracerebral extension of jugular venous thrombosis and subsequent serious or even fatal neurological sequelae. [ABSTRACT FROM AUTHOR]

Anomalies of coronary number and course represent an opinion-dividing topic in cardiopathology, particularly for their relationship with sudden cardiac death. To the best of our knowledge, we herein report the first fatal case of a young female whose coronary anatomy was characterised by the absence of any septal perforator branch in the proximal segment of the LAD. This case could be useful for pathologists, coronary angiographers, and interventional cardiologists in detecting this infrequent anomaly, thus providing a more accurate estimation of its incidence. [ABSTRACT FROM AUTHOR]

Supine hypotensive syndrome is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. We report a case of a 41-year-old 39-week-pregnant woman found dead supine. Autopsy revealed the following: cyanosis of the limbs; congestion of the jugular and subclavian veins; abundant abdominal subcutaneous fatty tissue; uterus displacing intestine and diaphragm; collapsed inferior vena cava; both femoral veins dilated and filled with blood; edematous and congested lungs; and placenta 790 g, fetus 3475 g, amniotic fluid 800 cm3. The diagnosis of supine hypotensive syndrome as the probable cause of death is supported by the position of the body and autopsy findings. This syndrome can be considered as the first stage of the physio-pathological mechanism that led to death in the case presented herein and should be considered by pathologists as a cause of sudden death. [ABSTRACT FROM AUTHOR]

Coarctation of the aorta (CA) is diagnosed mainly in pediatric patients, and therapy is conservative if asymptomatic, but surgical treatment is required if advanced arterial hypertension is present. Moderate to severe forms contraindicate any type of physical activity requiring cardiac effort. Here, we describe the first documented death of an apparently healthy 35-year-old woman because of cardiac tamponade by rupture of an aortic aneurysm, possibly related to congenital CA, prolonged use of oxymetazoline hydrochloride, and physical and/or emotional stress during sexual activity. Our patient was asymptomatic for classical CA symptoms. The patient's breathing difficulties likely in hindsight were due not so much to nasal congestion, but rather to an ineffective oxygenation of the blood from the abnormal heart. In an attempt to treat the 'nasal disease,' the patient ingested chronic and excessive doses of decongestants, aggravating her fatal disease. The danger of inhaling large doses of nasal decongestants without an appropriate medical indication is highlighted here. [ABSTRACT FROM AUTHOR]

We report a rare case of ostial plication as a potential cause of sudden death. Very few reports and images are available in the specialized literature regarding this anomaly. Ostial plication may be a source of sudden death or cause of death when no other significant autopsy findings are present. Ostial plication is a congenital severe obstruction/occlusion of the right or left ostium. Plication of the aortic wall leads to a "valve-like" ridge that can act as a door blocking inflow during diastolic filling, with consequent ischemia and a potentially life-threatening arrhythmia. The true incidence of this condition and its relationship to sudden death have not been reported in the literature. We believe that this case will be useful to autopsy pathologists in detecting this infrequent anomaly, thus providing a more accurate estimation of its incidence. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented in response to the article "Sudden and unexpected death in three cases of Ehlers-Danlos syndrome type IV," by L. B. Shields and colleagues in the 2010 issue.

Abstract: Congenital coronary anomalies represent a condition often unrecognized in the living and in the dead. Investigating this condition is relevant for both clinicians and pathologists in order to identify potentially unrecognized coronary causes of sudden death. Hypoplastic coronary artery disease (HCAD) is a rare congenital abnormality reported to be associated with sudden death. We report two additional cases of previously apparently healthy people who died suddenly and were found to have HCAD at postmortem evaluation. The clinicopathologic findings are discussed along with a review of the literature. [Copyright &y& Elsevier]