Figure_1.tif (2.31 MB)
Pedigree and ECGs of the index patient and his deceased brother.
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posted on 2014-08-20, 02:58 authored by Ulrich Schweigmann, Peter Biliczki, Rafael J. Ramirez, Christoph Marschall, Ina Takac, Ralf P. Brandes, Dieter Kotzot, Zenawit Girmatsion, Stefan H. Hohnloser, Joachim R. EhrlichA, arrows indicate genotype-positive family members; filled black square represents the index patient. Grey symbols represent ungenotyped family members. B, DNA sequence chromatograms indicating homozygous KCNH2 mutation in the index patient. The mutation is located on the C-terminus of the KCNH2 gene, causing a guanine to alanine change (c.G2504A, p.R835Q) at a conserved location. C, ECG of the index patient and his brother at initial presentation. Paper speed and leads of ECGs are indicated. The index patient (IV 5) had a QTc of ∼506 ms with notched T waves. D, illustrates patient characteristics. Yrs.: years; SCD: sudden cardiac death.
