Death Due to Ehlers-Danlos Syndrome Type IV

Prahlow, Joseph A.; Wagner, Scott A.

doi:10.1097/01.paf.0000153997.06338.4b

Cited by 20 publications

(9 citation statements)

References 17 publications

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“…Syphilic aneurysms of the thoracic aorta can present similarly [279]. Acute spontaneous hemorrhage from other large vessels, for example of the splenic artery, has been recorded; this may be associated with connective tissue disorders, fibromuscular dysplasia and cystic-medial necrosis type change [280][281][282][283]. Pulmonary thromboembolus is a well recognized cause of sudden death [284], being more prevalent in the 5th to 9th decades of life and typically occurring around 15 days after trauma [285].…”

Section: Non-cardiac Cardiovascular Causes Of Sudden Deathmentioning

confidence: 99%

Sudden adult death

Langlois

2009

Forensic Sci Med Pathol

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In the investigation of sudden death in adults, channelopathies, such as long QT syndrome, have risen to the fore in the minds of forensic pathologists in recent years. Examples of these disorders are touched upon in this review as an absence of abnormal findings at postmortem examination is characteristic and the importance of considering the diagnosis lies in the heritable nature of these conditions. Typically, a diagnosis of a possible channelopathy is evoked as an explanation for a 'negative autopsy' in a case of apparent sudden natural death. However, the one potential adverse effect of this approach is that subtle causes of sudden death may be overlooked. The intention of this article is to review and discuss potential causes of sudden adult death (mostly natural) that should be considered before resorting to a diagnosis of possible channelopathy. Nonetheless, it becomes apparent that many of the potential causes of sudden death can have a genetic basis. Thus, it becomes an important consideration that there may be a genetic basis to sudden death that extends beyond the negative autopsy.

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Section: Non-cardiac Cardiovascular Causes Of Sudden Deathmentioning

confidence: 99%

Sudden adult death

Langlois

2009

Forensic Sci Med Pathol

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“…36 Spontaneous arterial rupture has a peak incidence in the third and fourth decades, and life expectancy averages 48 years. 36 Midsized arteries of the thorax and abdomen are most commonly involved, 39 but stroke from ruptured cerebral vessels may also occur. Hollow viscera of the gastrointestinal tract or uterus may rupture.…”

Section: Etiology and Classificationmentioning

confidence: 99%

Ehlers-Danlos Syndrome in Orthopaedics

Shirley

DeMaio

Bodurtha³

2012

Sports Health

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Ehlers-Danlos syndrome is a heterogeneous connective tissue condition characterized by varying degrees of skin hyperextensibility, joint hypermobility, and vascular fragility. Joint dislocations, musculoskeletal pain, atrophic scars, easy bleeding, vessel/viscera rupture, severe scoliosis, and obstetric complications may occur. These manifestations are secondary to abnormal collagen, with specific molecular defects in types I, III, and V collagen; they may also be related to tenascin-X, which has been identified in some patients. Ehlers-Danlos syndrome has been classified into 6 types, with variable degrees of joint instability, skin hyperextensibility, wound healing difficulty, and vascular fragility. Diagnosis begins with recognition of the signs and symptoms of global hypermobility and referring appropriate patients for genetic consultation. It is important to accurately identify patients with Ehlers-Danlos syndrome to initiate appropriate musculoskeletal treatment, optimize anesthetic and postoperative management, perform appropriate vascular screening, and help families address their concerns with other families and advocacy groups.

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“…Table 1 includes the cases reported in forensic literature [20][21][22]; it also includes cases, although rare such as the present case, showing respiratory manifestation [15] or findings of the lungs found during autopsy [16,23]. In these cases, connective tissue disorder was determined as the underlying cause of death.…”

Section: Discussionmentioning

confidence: 93%