The surgical treatment of restrictive cardiomyopathy in pseudoxanthoma elasticum.

Abstract

SUMMARY A patient with pseudoxanthoma elasticum presented in pulmonary oedema with restrictive left ventricular cardiomyopathy caused by calcified endocardial bands that were confirmed on echocardiography and at catheterisation. The bands were resected as far as possible and the involved mitral valve was replaced by a heterograft. A year later calcification of the heterograft forced its replacement by a St Jude prosthesis. Relief of symptoms has been good in the medium term.Case report A 27 year old white man, known to have pseudoxanthoma elasticum, presented with a rapidly progressive nine month history of exertional dyspnoea, orthopnoea, paroxysmal nocturnal dyspnoea, and the striking symptom of exertional haemoptysis. Over the nine month period his exercise tolerance had decreased from that of an active amateur footballer to being unable to walk more than one hundred yards on the flat.Physical examination showed the classic skin lesions of pseudoxanthoma elasticum-yellow pseudoxanthomatous plaques, mainly in the neck region. There was evidence of congestive cardiac failure, with a sinus tachycardia, a loud left ventricular third heart sound, bilateral basal crepitations, jugular venous pressure raised 3-4cm with a deep "y" descent, an enlarged pulsatile liver, and oedema of the legs. The electrocardiogram showed no abnormality and in particular the QRS complexes and T waves were normal. The chest x ray showed considerable calcification within the cardiac outline-in particular in the region of the left ventricle ( figure). The classic appearances of pulmonary oedema were present. Cross sectional and M mode echocardiography showed several abnormal features (

Elastic tissue abnormalities resembling pseudoxanthoma elasticum in β thalassemia and the sickling syndromes

“…on May 10, 2018. by guest www.bloodjournal.org From restrictive cardiomyopathy has also been reported, 73 and elastic tissue defects of the placenta have been implicated in the development of obstetric complications seen in women with PXE. [74][75][76][77][78][79] The recognition of PXE manifestations and their complications in patients with ␤ thalassemia or sickling syndromes may not be easy.…”

Cardiac involvement in thalassemia intermedia: a multicenter study

“…All of them, on the other hand, have been related in the literature to pseudoxanthoma elasticum (PXE). 23 A diffuse elastic tissue disorder that resembles PXE has been described in sickling syndromes and ␤-thalassemia, particularly in TI patients older than 30. [24][25][26][27] PXE has furthermore been related to MVP, 28 a high occurrence of which has also been reported in ␤-thalassemia 29 and sickle cell disease, 30 though it is questioned in the latter.…”

Pseudoxanthoma Elasticum and Sudden Death

“…There is also a high prevalence of mitral valve prolapse in PXE (3,27,30). Two cases of mitral stenosis have been reported in association with PXE (31,32) and there have been cases of restrictive cardiomyopathy because of calcified endocardial bands (33). …”