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Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin

Nikos Protonotarios, MD^*,* , Adalena Tsatsopoulou, MD^*, Aris Anastasakis, MD, Elias Sevdalis, MD, Godfrina McKoy, PhD, Kostas Stratos, MD, Kostas Gatzoulis, MD, Kostas Tentolouris, MD, Chara Spiliopoulou, MD, Demos Panagiotakos, PhD, William McKenna, MD, FRCP, FACC and Paulos Toutouzas, MD, FACC

^* Yannis Protonotarios Medical Center, Naxos, Greece
Department of Cardiology, University of Athens, Athens, Greece
Department of Cardiological Sciences, St. George’s Hospital Medical School, London, United Kingdom
Department of Forensic Medicine and Toxicology, University of Athens, Athens, Greece

View larger version (182K): [in a new window]   Figure 1 Section of right ventricular apex from the heart of a 20-year-old girl with Naxos disease who died suddenly. Low magnification (x2.5) demonstrates massive replacement of mediomural and subepicardial layers by fatty tissue. Subendocardial layers are infiltrated by fibrosis.

View larger version (122K): [in a new window]   Figure 2 Recordings from baseline 12-lead electrocardiogram (precordial leads) in seven patients with Naxos disease. There is T-wave inversion from V1 to V3 or V4 or V5, QRS complex prolongation, complete or incomplete right bundle branch block pattern and epsilon waves (C4, C5, C18 and C20). Elevation (1 mm) of the ST segment in leads V1 to V4 is observed in Patient 3. Patient 5 has a pattern resembling Brugada’s syndrome.

View larger version (90K): [in a new window]   Figure 3 Two-dimensional echocardiographic images recorded from a patient with Naxos disease. (a) An aneurysm of right ventricular outflow tract (white arrows) is exhibited by a modified parasternal long-axis view. (b) An aneurysm of posterior wall of the right ventricle just below the tricuspid valve (white arrows) is exhibited by a subcostal four-chamber view. LA = left atrium; LV = left ventricle; RA = right atrium; RV = right ventricle; RVOT = right ventricular outflow tract; TV = tricuspid valve.

View larger version (29K): [in a new window]   Figure 4 Kaplan-Meier survival curves for cumulative survival (continuous line) and event-free survival (dotted line) among the subjects who were homozygous.