Case StudiesSudden cardiac death owing to pseudoxanthoma elasticum: A case report
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Pseudoxanthoma elasticum
2015, Handbook of Clinical NeurologyCitation 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).
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 MedicineCitation 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.
Disorders of elastic tissue
2009, Weedon's Skin Pathology: Third EditionMitral valve prolapse syndrome as cause of sudden death in young adults
2007, Forensic Science InternationalCitation 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.
Left Ventricular Systolic and Diastolic Function by Echocardiogram in Pseudoxanthoma Elasticum
2006, American Journal of CardiologyThe Purinergic Nature of Pseudoxanthoma Elasticum
2024, Biology