ArticlePostepy dermatologii i alergologii2020
The analysis of echocardiographic results in patients suffering from epidermolysis bullosa.
Article in Postepy dermatologii i alergologii, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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- Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein's anomaly.HGG advances · 2023Article
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6 authors at 1 institution in 1 country.
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Abstract
introductionCardiac abnormalities revealed in patients suffering from epidermolysis bullosa (EB) include dilated cardiomyopathy (DC) and aortopathy. DC is a rare but serious complication associated with an increased mortality, predominantly observed in recessive dystrophic EB. Echocardiography is the most available diagnostic tool used to detect heart disease in EB patients.
aimTo analyse echocardiographic results obtained in Polish EB patients and compare them between the EB group and healthy persons. MATERIAL AND
methodsWe analysed retrospectively echocardiograms of 23 patients with EB (14 F, mean age 17.3 years) performed from 2017 to 2019. The incidence of left ventricular (LV) systolic and diastolic dysfunction, right heart disease and congenital heart disease was evaluated. A comparison of echo-parameters between EB patients and 20 matched healthy subjects was performed.
resultsWe did not find any cases of DC and aortopathy in the EB group. One bicuspid aortic valve case was revealed. Analysis of LV diastolic parameters showed that the mean value of mitral A velocity was significantly higher and the pulmonary venous flow D velocity was lower in the EB group than in controls. Tissue Doppler analysis revealed lower values of E' velocities of mitral annulus in the EB group, what may suggest discreetly slower LV relaxation, however, this will definitely require further research.
conclusionsAlthough most EB patients do not present cardiac symptoms, there is still a risk of developing cardiomyopathy associated with poor prognosis. It seems reasonable to perform a scheduled echocardiographic screening including LV systolic and diastolic function assessment to detect preclinical cardiac abnormalities.
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