The analysis of echocardiographic results in patients suffering from epidermolysis bullosa

Abstract

Introduction Cardiac 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. Aim To analyse echocardiographic results obtained in Polish EB patients and compare them between the EB group and healthy persons. Material and methods We 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. Results We 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. Conclusions Although 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.

Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein’s anomaly

“…A proportion of 9% of patients with junctional EB (an incidence of 2.7 per million live births 28 ) were caused by homozygous pathogenic variants in LAMA3 ( https://www.ncbi.nlm.nih.gov/books/NBK1125 ). 29 Although cardiac phenotypes in carriers of the junctional EB families harboring LAMA3 pathogenic variants have not been reported, patients with EB have been associated with various cardiac phenotypes, including bicuspid aortic valve, 30 LVNC and aortopathy, 31 , 32 dilated cardiomyopathy, 33 , 34 , 35 , 36 and atrial fibrillation. 37 Kurnicka et al.…”

“… 37 Kurnicka et al. 30 showed significantly aberrant RV diastolic function (including the maximal velocity of the atrial wave and tricuspid annulus late diastolic velocity) in 23 patients with EB. These observations suggested the potential association of LAMA3 with Ebstein’s anomaly.…”

Dermatologic manifestations of pediatric cardiovascular diseases: Skin as a reflection of the heart

“…80 Since dilated cardiomyopathy portends a poor prognosis in EB patients, it may be reasonable to perform echocardiography with assessment of ventricular dimensions and function. 81 The etiology of cardiomyopathy is further complicated by coexisting nutrient deficiencies in EB patients, who have increased nutritional requirements secondary to wound healing, anemia, infections, and wounds of the gastrointestinal tract. 82 As such, assessment of selenium, carnitine, and chronic anemia is also warranted.…”