Sudden cardiac death owing to pseudoxanthoma elasticum: A case report

doi:10.1053/hupa.2000.0311002

Human Pathology

Volume 31, Issue 8, August 2000, Pages 1002-1004

https://doi.org/10.1053/hupa.2000.0311002 Get rights and content

Abstract

A 26-year-old woman collapsed and died suddenly while dancing. Autopsy findings included the cutaneous lesions of pseudoxanthoma elasticum (PXE), a rare genetic disease with autosomal dominant and recessive inheritance patterns. Pathologic findings of PXE (degenerated elastic fibers) were seen in the stenotic epicardial coronary arteries, the intramyocardial arterioles, the subendocardium, the mitral valve, and the blood vessels of other viscera. The mitral valve was slightly myxoid. Intramyocardial arteriolar involvement has not been previously described in PXE. The other cardiac findings have only been described in a few cases. Although mitral valve prolapse in PXE has been shown echocardiographically, it is unclear whether or not the mitral valve findings in this case represent the substrate for this condition. It is important that autopsy pathologists search carefully for the pathognomonic skin lesions of PXE in cases of sudden death associated with coronary disease, mitral valve prolapse, or endocardial lesions. Recognition of this disease is essential for proper genetic counseling of surviving family members. HUM PATHOL 31:1002-1004.

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Cited by (35)

Pseudoxanthoma elasticum
2015, Handbook of Clinical Neurology
Citation Excerpt :
Mitral valve prolapse occurs frequently in individuals with PXE, but it usually remains asymptomatic (Lebwohl et al., 1982). Fatal cardiomyopathy is rarely reported in infants and children (Nolte, 2000). Generalized arterial calcification of infancy is characterized by extensive calcification of the medium-sized and large arteries and associated with various signs and symptoms of cardiovascular dysfunction (Nitschke and Rutsch, 2012).
Pseudoxanthoma elasticum (PXE) is characterized by elastic tissue fragmentation and calcification. The deterioration of elastic fibers leads to characteristic yellowish papules and plaques (pseudoxanthomas) and retinal angioid streaks. Although these findings may begin in childhood, the diagnosis is typically not made until the second or third decade after the skin and retinal findings become more prominent. Cerebrovascular complications include brain infarction due to narrowing and occlusion of cerebral arteries and aneurysm formation. Intracranial hemorrhage can occur in the absence of aneurysm, and gastrointestinal hemorrhage is common. Peripheral arterial vascular disease can lead to intermittent leg claudication. A skin biopsy often demonstrates calcified elastic fibers, even in a mildly affected area of skin. The inheritance is autosomal recessive, although heterozygotes may exhibit some features of the disease. PXE is due to mutation of the ABCC6 gene on chromosome 16. There is no treatment, but certain lifestyle modifications may limit the complications. The potential for retinal hemorrhage has led to recommendations for limitations of contact sports or other activities that might facilitate eye trauma. Other recommendations include maintaining a normal lipid profile, avoidance of aspirin and nonsteroidal anti-inflammatory agents, and limiting dietary calcium intake.
A forensic autopsy case of death in a patient with pseudoxanthoma elasticum - Dermatopathologic findings as a clue of the cause of death
2013, Journal of Forensic and Legal Medicine
Citation Excerpt :
Occasionally, ocular involvement can result in retinal hemorrhage and blindness.5,8 Many complications of PXE, such as intracerebral hemorrhage,9 cerebral infarct,10 myocardial infarct,11,12 cardiac valve pathology,13 and gastrointestinal bleeding14 can cause sudden death.15 However, to the best of our knowledge, there has been no report of death due to PXE-related epilepsy.
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder, characterized by papular skin lesions and cutaneous laxity caused by fragmentation and mineralization of elastic fibers. Although vascular and retinal aspects of this disease and their associated complications are well characterized, few authors have focused on the increased incidence of epilepsy in patients with PXE. A 28-year-old Korean male was found dead in his work place with bloody-foamy discharge from his mouth and nostrils. He reportedly had a convulsive episode 5 days prior to his death in the work place. The skin showed generalized laxity and many creases with maculopapular pigmentations. A histopathologic examination of the skin revealed Pseudoxanthoma elasticum. Based on the histopathological findings and medical history, death was postulated to be due to ‘an internal cause, possibly related to a seizure attack’. Our findings suggest that histopathologic examinations of any lesions found during the forensic autopsy should be encouraged.
Disorders of elastic tissue
2009, Weedon's Skin Pathology: Third Edition
Mitral valve prolapse syndrome as cause of sudden death in young adults
2007, Forensic Science International
Citation Excerpt :
Recently there have been further hints that familial and genetic factors play a role in the heterogeneity of the disorder [15,16], which had been supposed several years before [17]. In addition, an association with inherited disorders like Marfan syndrome [18] and Pseudoxanthoma elasticum [19] or non-cardiac diseases like lymphocytic thyroiditis [20] has been shown. Despite a benign course of the disorder in most cases, predictive risk factors in patients with MVPS have been lined out in clinical studies: In a long-term follow-up of 237 patients (mean duration of follow-up 6.2 years), Nishimura et al. [21] identified redundant mitral valve leaflets as a possible risk factor for sudden death or lethal complications, such as infective endocarditis or a cerebral embolic event.
Mitral valve prolapse syndrome (MVPS) is a relatively common disorder of the mitral valve and most cases take a benign clinical course. Only a subset of patients develop severe clinical symptoms such as arrhythmia, insufficiency of the mitral valve or infective endocarditis. As a consequence, sudden death might occur in these patients, thought to be caused by an arrhythmogenic event. By presenting six cases of sudden unexpected death in young female adults, we point at clinical and pathological data from the literature, which are of interest from the viewpoint of legal medicine. The incidence of MVPS in autopsy series has been reported to be about 4–5%, while clinical data hint at an incidence of about 2.5%. The presented cases suggest that even clinically benign cases of MVPS in young adults might result in sudden unexpected death. Such cases are not included in hospital based studies on the topic. This might lead to an underestimation of the fatal risk associated with the disease, even if sudden death might be a rare event in MVPS.
Left Ventricular Systolic and Diastolic Function by Echocardiogram in Pseudoxanthoma Elasticum
2006, American Journal of Cardiology
Pseudoxanthoma elasticum is an inherited systemic disease of connective tissue with possible cardiac involvement. Nineteen patients with pseudoxanthoma elasticum without a history of cardiac disease were investigated by echocardiography using standard measurements and tissue Doppler imaging. Systolic function was normal, but diastolic parameters were abnormal in 7 patients. Explanations for these abnormalities could be silent myocardial ischemia due to early coronary involvement and/or the direct consequences of ultrastructural defects of the elastic tissue of the heart.
The Purinergic Nature of Pseudoxanthoma Elasticum
2024, Biology

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Case StudiesSudden cardiac death owing to pseudoxanthoma elasticum: A case report

Abstract

Case Studies
Sudden cardiac death owing to pseudoxanthoma elasticum: A case report