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Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited skin fragility disorder that has been rarely found to have associated cardiac involvement, specifically dilated cardiomyopathy (DCM) and associated heart failure symptoms. We recently described left ventricular noncompaction (LVNC) in a single patient. The aim of this study was to review a tertiary care center's experience to determine whether other distinct cardiomyopathy phenotypes as well as possible aortic involvement are associated with RDEB.
A retrospective IRB approved study was conducted at our institution with the goal of analyzing all patients with RDEB. All cardiovascular studies, including echocardiograms and electrocardiograms, were reviewed. Echocardiographic data were classified based on Z-score measurements with a Z score of <−2 or >+2 being abnormal.
79 patients (41 female) were identified with RDEB. 45/79 had at least one echocardiogram with some patients having multiple studies. There were 89 total echocardiograms associated with the cohort. 11/45 patients had an abnormal echocardiogram. Abnormal findings included: left ventricle (LV) dilation (2/45), left atrial dilation (2/45), aortic root dilation (7/45), sinotubular junction dilation (5/45), and ascending aortic dilation (3/45). 31 patients had depressed LV systolic function.
The cardiovascular findings in RDEB are broader than previous reports in the literature and include cardiomyopathy and aortopathy. Based on these findings and the associated risks, we recommend baseline echocardiographic screening on patients with RDEB, as well as longitudinal noninvasive surveillance is indicated as future development of myocardial dysfunction or aortopathy may occur. Early recognition and cardiology referral of these patients with abnormal findings will facilitate appropriate medical management and adds to the completeness of care for children and families with RDEB.
Poster Sessions, Expo North
Saturday, March 09, 2013, 10:00 a.m.-10:45 a.m.
Session Title: Dilated Cardiomyopathies: From Peripartum, Cancer Therapy, Familial Cardiomyopathies to Cardiac Amyloidosis
Abstract Category: 15. Heart Failure: Clinical
Presentation Number: 1134-284
- 2013 American College of Cardiology Foundation