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Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non–SCN5A-related patients

Jeroen P. P. Smits, MD^*, Lars Eckardt, MD, Vincent Probst, MD, Connie R. Bezzina, PhD^*, Jean Jacques Schott, PhD, Carol Ann Remme, MD^*, Wilhelm Haverkamp, MD, G.ünter Breithardt, MD, Denis Escande, MD, PhD, Eric Schulze-Bahr, MD, Hervé LeMarec, MD, PhD and Arthur A. M. Wilde, MD, PhD^*,*

^* Experimental and Molecular Cardiology Group, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Medizinische Klinik und Poliklinik C (Kardiologie/Angiologie) Universitätsklinikum, Institut f. Arterioskleroseforschung an der Universität Münster, Münster, Germany
INSERM U533, Hôpital Hôtel-Dieu, Nantes, France

View larger version (11K): [in a new window]   Figure 1 (A) PQ interval (ms) on baseline ECG for individual patients. Patients with a pore-forming region (alpha-subunit) of the human cardiac sodium channel (SCN5A) mutation were found to have a significantly longer PQ interval than patients without an SCN5A mutation. Solid circle = Brugada syndrome patients with known SCN5A mutation; open circle = mean ± SEM; open square = Brugada syndrome patients without known SCN5A mutation; solid square = mean ± SEM. (B) His to ventricle interval (HV) time (ms) for individual patients. Patients with an SCN5A mutation were found to have a significantly longer HV interval than patients without an SCN5A mutation. Solid circle = Brugada syndrome patients with known SCN5A mutation; open circle = mean ± SEM; open square = Brugada syndrome patients without known SCN5A mutation; solid square = mean ± SEM.

View larger version (31K): [in a new window]   Figure 2 (A) Receiver operating characteristic curve comparing sensitivity and specificity of the baseline PQ interval and the presence of an SCN5A-mutation. Select PQ intervals are indicated. Below are positive predictive value and negative predictive value of various cut points of PQ interval. (B) Receiver operating curve comparing sensitivity and specificity of the His to ventricle interval (HV) and the presence of an SCN5A mutation. Select HV intervals are indicated. Below are positive predictive value and negative predictive value of various cut points of HV interval. AUC = area under the curve.