Cardiac involvement in pseudoxanthoma elasticum

Huang, Shao-Nan; Kumar, G. Gopi; Steele, H. D.; Parker, John O.

doi:10.1016/0002-8703(67)90508-x

Cited by 36 publications

(6 citation statements)

References 9 publications

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“…In part it is genetically determined; familial cases are well recognised (Hunt and Sloman, 1969;Shell et al, 1969;Shappell et al, 1973), and the floppy valve is an integral part of the generalised connective tissue weakness of Marfan's syndrome (McKusick, 1955;Miller and Pearson, 1959;Shankar et al, 1967;Bowers, 1969;Simpson et al, 1969;Murdoch et al, 1972). Other diseases associated with generalised connective tissue defect in which the floppy mitral valve is known to occur include osteogenesis imperfecta (Criscitiello et al, 1965;Wood et al, 1973), the Ehlers-Danlos syndrome (McKusick, 1966;Brandt et al, 1975), and pseudoxanthoma elasticum (Huang et al, 1967). The occurrence of the floppy valve in Marfan's syndrome has led to the suggestion that all cases are hereditary and, in the absence of other stigmata, are 'formes frustes' of the fully developed disease (Read et al, 1965).…”

Section: (C) Forensic Necropsy Materialsmentioning

confidence: 99%

The floppy mitral valve. Study of incidence, pathology, and complications in surgical, necropsy, and forensic material.

Davies¹,

Moore²,

Braimbridge³

1978

Heart

319

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SUMMARY In the study of 1984 routine hospital necropsies the mitral valve was examined from the left atrium in the intact heart with a pressure head of water in the left ventricle. The valve was graded from grade 0 (normal) to grade 4: grade 1, expansion of a small part of one cusp only; grade 2, over one-third of the posterior cusp or one-half of the anterior cusp expanded, with intact chordae; grade 3, ruptured chordae; grade 4, chordal fusion to ventricular wall. The frequency ofgrade 2 to 4 floppy valves rose with age with an overall incidence of 3 9 per cent in men and 5-2 per cent in women. Grade 1 floppy valves have no clinical significance. Grade 2 floppy valves were found to be associated with auscultatory signs but often only contributed to cardiac failure or were coincidental findings. Grade 3 and 4 floppy valves were direct causes of death from bacterial endocarditis and/or severe mitral regurgitation.The surgical series of floppy valves showed that chordal rupture was the event which most commonly made operation necessaryin middle age:in a minority this was caused bybacterial endocarditis. Dilatation of the annulus was an important contributory factor but can produce significant mitral regurgitation without chordal rupture, particularly in inherited connective tissue disorders such as the Marfan syndrome.Forensic necropsies confirm that sudden death occurs in patients with floppy valves. The majority have grade 3 or 4 floppy valves and presumably significant mitral regurgitation. A minority have minimal valve involvement and the mechanism of death is unexplained.The exact magnitude ofthe risk for any patient with a floppy valve of developing bacterial endocarditis, or chordal rupture leading to significant mitral regurgitation, or of dying suddenly, is not known but must be very low considering the frequency of the valve lesion.The essential pathology of the floppy mitral valve is weakening of the central fibrous core allowing cusp expansion and chordal elongation to occur. The weakness ofthe collagen is in part genetically determined, in part age related. Identical changes occur in the tricuspid valve, and in the aortic root, leading to aortic regurgitation. Similar pathological changes are well recognised in other mammals, particularly the aged dog.

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Section: (C) Forensic Necropsy Materialsmentioning

confidence: 99%

The floppy mitral valve. Study of incidence, pathology, and complications in surgical, necropsy, and forensic material.

Davies¹,

Moore²,

Braimbridge³

1978

Heart

319

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“…In fact, the early literature on pregnancy and PXE (reviewed by Berde et al 7 ) was replete with anecdotal reports of severe complications, most probably leading some healthcare providers to recommend that women with PXE avoid becoming pregnant. Early publications concerning PXE and pregnancy contained reports of severe gastrointestinal bleeding, 8-10 cardiac disease, 11 pre-eclampsia 8 and intrauterine growth retardation. 7,[12][13][14] Case reports of relatively uncomplicated pregnancies 9,15-18 have also been published.…”

Section: Discussionmentioning

confidence: 99%

Pregnancy and obstetrical outcomes in pseudoxanthoma elasticum

Bercovitch

Leroux²,

Terry³

et al. 2004

Br J Dermatol

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PXE is not associated with markedly increased fetal loss or adverse reproductive outcomes. The incidence of gastric bleeding, although probably higher than in the unaffected population, is much lower than previously reported, and retinal complications are uncommon. Although a few pregnancies were associated with worsening of skin manifestations, there was no correlation of either gravidity or ever having been pregnant with ultimate severity of skin, ocular or cardiovascular manifestations. There is no basis for advising women with PXE to avoid becoming pregnant, and most pregnancies in PXE are uncomplicated.

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“…1 Diagnosis is rarely made in childhood, apart from sometimes at autopsy. 3,4 The condition is characterised by flexural skin lesions of "plucked chicken" appearance, angioid streaks in the retina and cardiovascular problems including mitral valvar prolapse, 5 accelerated atherosclerosis, calcification of peripheral arteries, renovascular hypertension, 6 the ventricles, atriums and atrioventricular valves. 7 Endocardial lesions of intimal fibroelastic thickening, with disorganisation and calcification of elastic fibres, are considered specific to the diagnosis.…”

Section: Discussionmentioning

confidence: 99%