Arrhythmic disorder mapped to chromosome 1q42q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts
Heikki Swan, MD*,
Kirsi Piippo, PhD*,
Matti Viitasalo, MD*,
P.äivi Heikkilä, MD ,
Timo Paavonen, MD ,
Katariina Kainulainen, MD*,
Juha Kere, MD ,
Pekka Keto, MD ,
Kimmo Kontula, MD* and
Lauri Toivonen, MD*
* Department of Medicine, Helsinki University Hospital, Helsinki, Finland
Department of Pathology, University of Helsinki, Helsinki, Finland
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, V25). 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 V16).
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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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