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J Am Coll Cardiol, 1999; 34:2035-2042
© 1999 by the American College of Cardiology Foundation
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Arrhythmic disorder mapped to chromosome 1q42–q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts

Heikki Swan, MD*, Kirsi Piippo, PhD*, Matti Viitasalo, MD*, P.äivi Heikkilä, MD{dagger}, Timo Paavonen, MD{dagger}, Katariina Kainulainen, MD*, Juha Kere, MD{ddagger}, Pekka Keto, MD§, Kimmo Kontula, MD* and Lauri Toivonen, MD*

* Department of Medicine, Helsinki University Hospital, Helsinki, Finland
{dagger} Department of Pathology, University of Helsinki, Helsinki, Finland
{ddagger} Department of Medical Genetics, University of Helsinki, Helsinki, Finland
§ Department of Radiology, Helsinki University Hospital, Helsinki, Finland



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Figure 1 Pedigrees of Families 1 and 2. The empty circles/squares stand for unaffected women/men and the filled circles/squares for affected women/men. The unaffected men carrying the disease haplotype is marked with an arrow. Individuals included in the linkage study are indicated with circled numbers. SD = sudden death under the age of 35 years.

 


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Figure 2 Left: Sample of the electrocardiogram of a 9-year-old girl during the maximal load of the exercise stress test (leads II, aVF, V2–5). Middle: Electrocardiogram of the same girl during exercise stress test three years later showing multifocal ventricular ectopic beats. Right: Electrocardiogram obtained during an exercise stress test of a 42-year-old woman demonstrating sustained polymorphic ventricular tachycardia (leads V1–6).

 


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Figure 3 Lod scores calculated by GENEHUNTER for chromosome 1. The data are combined from pedigree 1 (38 markers) and pedigree 2 (8 markers). The X-axis shows genetic markers using the correct order and distances. The Y-axis shows the corresponding lod scores. The highest peak is seen for marker D1S2680.

 


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Figure 4 Kaplan-Meier curves for cumulative survival (continuous line) and cardiac event-free survival (dotted line) among the affected individuals.

 




 
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