Coronary artery bypass in a 15-year-old girl with pseudoxanthoma elasticum

doi:10.1016/0003-4975(90)90265-8

The Annals of Thoracic Surgery

Volume 49, Issue 3, March 1990, Pages 483-485

https://doi.org/10.1016/0003-4975(90)90265-8 Get rights and content

Abstract

A 15-year-old girl with pseudoxanthoma elasticum and associated severe coronary artery disease underwent double coronary artery bypass using left internal mammary artery and saphenous vein. Preoperatively the patient had life-threatening syncope and positive treadmill test results. The postoperative course was uneventful, and the patient has been doing well for 3 years. Pseudoxanthoma elasticum is a rare disease that can cause premature coronary arterial obstructive disease in children and adolescents.

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There are more references available in the full text version of this article.

Cited by (32)

Pseudoxanthoma elasticum in childhood
2009, Annales de Dermatologie et de Venereologie
Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro
2006, Journal of Investigative Dermatology
Citation Excerpt :
Calcification of elastic fibers of the Bruch's membrane of the eye results in angioid streaks that often lead to subretinal neovascularization and hemorrhages, resulting in the loss of central vision (Weenink et al., 1996). The mineralization of elastic fibers of arteries often causes cardiovascular manifestations such as premature peripheral vascular occlusive disease, intermittent claudication, and/or gastrointestinal bleeding (Mendelsohn et al., 1978; Nishida et al., 1990; Lebwohl et al., 1993). Surprisingly, it was established that the PXE phenotype derives from mutations in an ABC transporter gene called ABCC6 (Bergen et al., 2000; Le Saux et al., 2000; Ringpfeil et al., 2000; Struk et al., 2000).
Pseudoxanthoma elasticum (PXE) is a heritable disorder mainly characterized by calcified elastic fibers in cutaneous, ocular, and vascular tissues. PXE is caused by mutations in ABCC6, a gene encoding an ABC transporter predominantly expressed in liver and kidneys. The functional relationship between ABCC6 and elastic fiber calcification is unknown. We speculated that ABCC6 deficiency in PXE patients induces a persistent imbalance in circulating metabolite(s), which may impair the synthetic abilities of normal elastoblasts or specifically alter elastic fiber assembly. Therefore, we compared the deposition of elastic fiber proteins in cultures of fibroblasts derived from PXE and unaffected individuals. PXE fibroblasts cultured with normal human serum expressed and deposited increased amounts of proteins, but structurally normal elastic fibers. Interestingly, normal and PXE fibroblasts as well as normal smooth muscle cells deposited abnormal aggregates of elastic fibers when maintained in the presence of serum from PXE patients. The expression of tropoelastin and other elastic fiber-associated genes was not significantly modulated by the presence of PXE serum. These results indicated that certain metabolites present in PXE sera interfered with the normal assembly of elastic fibers in vitro and suggested that PXE is a primary metabolic disorder with secondary connective tissue manifestations.
Intracoronary ultrasound guided percutaneous coronary angioplasty using a drug eluting stent in a patient with pseudoxanthoma elasticum
2005, Atherosclerosis
Long-term left internal mammary artery graft patency for coronary artery disease associated with pseudoxanthoma elasticum
2004, Annals of Thoracic Surgery
Citation Excerpt :
The predilection of this pathologic process for medium-sized arteries has led some authors to recommendation that the use of internal mammary artery conduits be avoided altogether during CABG [2, 4, 6, 7]. Recently, this sentiment has come under question, as the LIMA has been found to be free of stenosis in a number of patients being considered for CABG [2, 4, 8]. The effect of harvesting and anastomosis on the disease process within the LIMA has been unclear and has led to continued debate regarding the usefulness of this graft in the treatment of PXE-related coronary artery disease [8].
Pseudoxanthoma elasticum (PXE) is a rare, inherited connective tissue disorder with numerous systemic manifestations that include premature coronary artery disease. Coronary artery bypass grafting (CABG) is known to be beneficial in patients with PXE-related coronary artery disease. In these patients, however, the suitability of arterial conduits, including the internal mammary artery, has been controversial. We present a patient with PXE-related coronary artery disease who has had long-term patency of a left internal mammary artery (LIMA) graft after an off-pump CABG procedure in which LIMA and bilateral radial artery conduits were used.
Pseudoxanthoma elasticum: Is the left internal mammary artery a suitable conduit for coronary artery bypass grafting?
2002, Annals of Thoracic Surgery
Citation Excerpt :
The natural history of LIMA disease in PXE is unknown, as are the effects of harvesting and anastomosis on the progression of the disease in the LIMA. Furthermore, there is no angiographic evidence of early occlusion of LIMA grafts in PXE patients who have undergone coronary artery revascularization [2, 4]. Whether to use the LIMA as a conduit in patients with PXE is therefore unclear.
Coronary artery revascularization remains a feasible and beneficial treatment for coronary artery disease in patients with pseudoxanthoma elasticum. Careful angiographic evaluation of the left internal mammary artery and coronary arteries is required in patients with pseudoxanthoma elasticum with suspected coronary artery disease. A nonstenosed left internal mammary artery at angiography may be used as a conduit for coronary artery revascularization; however, both the effect of harvest and anastomosis on the disease process in the left internal mammary artery and the long-term patency of left internal mammary artery grafts remain unknown.
Cardiovascular manifestations of systemic elastorrhexis
2001, Revue de Medecine Interne
Introduction. – L’élastorrhéxie systématisée ou syndrome de Grônblad-Strandberg-Touraine est une maladie héréditaire se résumant en une dysplasie généralisée du tissu élastique caractérisée par une hétérogénéité clinique avec diverses localisations, dont les principales sont cutanées, oculaires et artérielles.
Actualités et points forts. – Les complications cardiovasculaires de cette entité anatomoclinique incluent fréquemment une cardiopathie ischémique, une hypertension rénovasculaire et une artériopathie des membres inférieurs. Parallèlement, quelques cas de cardiomyopathies restrictives et valvulaires ont été décrits. L’insuffisance coronaire, souvent précoce, se voit dans environ 20 % des cas.
Perspectives et projets. – Cette revue de la littérature concernant une cause rare de cardiopathie, souligne l’intérêt de rechercher une élastorrhéxie devant la survenue d’une coronaropathie et/ou d’artériopathies précoces et sévères, en l’absence de facteur de risque cardiovasculaire. Cette maladie héréditaire, liée à un gène récemment localisé sur le chromosome 16p13.1, pourrait dans l’avenir être facilement dépistée par une cartographie du génome sans avoir recours à une biopsie cutanée.
Introduction. – Systemic elastorrhexis or Grönblad-Strandberg-Touraine syndrome is a rare inherited disease characterized by a generalized elastic tissue dysplasia and polymorphic clinical features, with the main tissues affected being cutaneous, ocular and arterial.
Current knowledge and key points. – Usual cardiovascular complications of this entity include ischemic heart disease, renovascular hypertension and atherosclerotic peripheral vascular disease. Some cases of restrictive cardiomyopathies and valvular disease have been reported. Coronary artery disease, often with early onset, is seen in approximately 20% of cases.
Future prospects and projects. – This review of the literature concerning a rare cause of cardiopathy underlines the need to search for underlying elastorrhexis in the clinical setting of early onset and severe coronary artery disease or arteriopathy, especially in the absence of vascular risk factors. This hereditary disease has been traced to chromosome 16p13.1 and may in the future be easily diagnosed, bypassing the need for cutaneous biopsy.

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Case reportCoronary artery bypass in a 15-year-old girl with pseudoxanthoma elasticum

Abstract

Am Heart J

Am J Cardiol

Vascular studies in pseudoxanthoma elasticum

Acta Med Scand

Pseudoxanthoma elasticum with severe cardiovascular disease in a child

Am J Dis Child

Case report
Coronary artery bypass in a 15-year-old girl with pseudoxanthoma elasticum