부산대학교 도서관

BackgroundCertain severe subtypes of epidermolysis bullosa have been linked to an increased risk of dilated cardiomyopathy (DCM). Thus, despite no formal guidelines for screening such patients, many experts recommend an annual echocardiogram in order to detect early signs of DCM in those with severe generalised recessive dystrophic epidermolysis bullosa (RDEB-gen sev) and EBS-desmoplakin deficiency (EBS-D).AimTo determine if the frequency of echocardiogram screening in patients with RDEB-gen sev and EBS-D should be increased.MethodsWe conducted a retrospective study of patients diagnosed with RDEB-gen sev or EBS-D between 2006 and 2016. Frequencies of cardiomyopathy were determined by review of medical records and echocardiogram results. General cardiac function, specific measurements of left ventricular dimension and ejection fraction were reviewed at each echocardiographic assessment. Following an abnormal echocardiogram, the patients were assessed more frequently depending on the severity of the ventricular dilatation and systolic function. This was typically every month until measurements stabilised with pharmacological treatment, and every six months thereafter. Patients under the age of two were excluded from the study as they had not had their first cardiac screening.ResultsTwenty-one patients were included in the study; eighteen had the diagnosis of RDEB-gen sev (85.7%) and the remaining three had EBS-D (14.3%). Four patients developed DCM during the ten-year period (19.0%); this included all three EBS-D patients (100%) and one with RDEB-gen sev (5.56%). All were asymptomatic before their first echocardiogram that showed signs of mild DCM. The mean time between their last normal and their first abnormal echocardiogram was 1.67 years. The patients had their first abnormal echocardiogram at differing ages, with a range of 2.01 to 9.28 years. The EBS-D patient developing DCM at 2.01 years progressed from mild to severe DCM in seven months.ConclusionsAs 100% of EBS-D patients, including one at 2.01 years, developed DCM, we recommend this cohort should be screened every six months from birth. Although many RDEB-gen sev patients continued to have normal echocardiograms, the current recommendation for annual screening is justified by the detection of DCM in one asymptomatic RDEB-gen sev patient.