Electrocardiogram, Echocardiography, and Magnetic Resonance Imaging Characteristics in Uhl’s Disease
Uhl’s disease is a very rare affection that was originally described in 19521; few cases have been reported in the literature. It is caused by isolated right ventricular enlargement and failure with partial or total absence of right ventricular myocardium. It was first considered to be a congenital development failure in the human embryo in its early stages. However, more recent publications incriminate apoptotic anomalies for right ventricular muscle agenesy.2–3 Surgical correction has been attempted, without success.4 Cardiac transplantation may be proposed when patients become refractory to medical treatment.
We report the case of a 22-year-old woman without any medical history who was referred to us for dyspnea and syncope. She did not complain of palpitation and had no manifestation of right heart failure. Twelve-lead ECG (Figure 1) showed right atrial hypertrophy and an exaggerated, and not anteriorly described, fragmented ventricular depolarization, which corresponded to very slow conduction in the right ventricle. Chest x-ray revealed enlargement of the cardiac silhouette with a prominent right-ventricle contour (Figure 2). Neither supraventricular nor ventricular arrhythmia was observed during long-term ambulatory ECG monitoring. Transthoracic (Movie I) and transesophageal echocardiography (Movie II) depicted a huge hypokinetic right ventricle with severe tricuspid regurgitation. There was no right obstacle and no argument for Ebstein disease. The right atrium was also dilated as a consequence of the right cardiomyopathy and severe tricuspid regurgitation.
Transverse T1-weighted conventional spin-echo sequences (Figure 3) showed an extremely dilated thin-wall right ventricle and absence of trabeculation. The right atrium was dilated and hypertrophied. There was no fat signal in the right ventricular wall as seen in arrhythmogenic ventricular dysplasia. The septal and left ventricular myocardium were preserved. Cine magnetic resonance imaging (Figure 4, Movie III) demonstrated an absence of right ventricular wall motion.
The patient was treated with β-blocker and diuretics and is free of symptoms at 2 years. In this case, the ECG showed right ventricular electrical activity, indicating persistent myocardial tissue.
The online-only Data Supplement, which contains 3 movies, can be found at http://circ.ahajournals.org/cgi/content/full/115/2/e11/DC1.