Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia
PJ Laitinen, KM Brown, K Piippo, H Swan… - Circulation, 2001 - Am Heart Assoc
Background—Familial polymorphic ventricular tachycardia is an autosomal-dominant,
inherited disease with a relatively early onset and a mortality rate of≈ 30% by the age of 30 …
inherited disease with a relatively early onset and a mortality rate of≈ 30% by the age of 30 …
Arrhythmic disorder mapped to chromosome 1q42–q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts
H Swan, K Piippo, M Viitasalo, P Heikkilä… - Journal of the American …, 1999 - jacc.org
OBJECTIVES The purpose of this study was to provide clinical and anatomical
characteristics as well as genetic background of a malignant arrhythmogenic disorder …
characteristics as well as genetic background of a malignant arrhythmogenic disorder …
Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights
K Kontula, PJ Laitinen, A Lehtonen… - Cardiovascular …, 2005 - academic.oup.com
Cardiac excitation–contraction coupling occurs by a calcium ion-mediated mechanism in
which the signal of action potential is converted into Ca2+ influx into the cardiomyocytes …
which the signal of action potential is converted into Ca2+ influx into the cardiomyocytes …
Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak
SE Lehnart, XHT Wehrens, PJ Laitinen, SR Reiken… - Circulation, 2004 - Am Heart Assoc
Background—Familial polymorphic ventricular tachycardia (FPVT) is characterized by
exercise-induced arrhythmias and sudden cardiac death due to missense mutations in the …
exercise-induced arrhythmias and sudden cardiac death due to missense mutations in the …
Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture
AL Lahti, VJ Kujala, H Chapman… - Disease models & …, 2012 - journals.biologists.com
Long QT syndrome (LQTS) is caused by functional alterations in cardiac ion channels and is
associated with prolonged cardiac repolarization time and increased risk of ventricular …
associated with prolonged cardiac repolarization time and increased risk of ventricular …
High prevalence of four long QT syndrome founder mutations in the Finnish population
A Marjamaa, V Salomaa, C Newton-Cheh… - Annals of …, 2009 - Taylor & Francis
Aims. Long QT syndrome (LQTS) is an inherited arrhythmia disorder with an estimated
prevalence of 0.01%–0.05%. In Finland, four founder mutations constitute up to 70% of the …
prevalence of 0.01%–0.05%. In Finland, four founder mutations constitute up to 70% of the …
High efficacy of β-blockers in long-QT syndrome type 1: contribution of noncompliance and QT-prolonging drugs to the occurrence of β-blocker treatment “failures”
GM Vincent, PJ Schwartz, I Denjoy, H Swan, C Bithell… - Circulation, 2009 - Am Heart Assoc
Background—β-Blocker efficacy in long-QT syndrome type 1 is good but variably reported,
and the causes of cardiac events despite β-blocker therapy have not been ascertained …
and the causes of cardiac events despite β-blocker therapy have not been ascertained …
Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects
H Swan, M Viitasalo, K Piippo, P Laitinen… - Journal of the American …, 1999 - jacc.org
OBJECTIVES This study was performed to evaluate the QT interval and heart rate responses
to exercise and recovery in gene and mutation type-specific subgroups of long QT syndrome …
to exercise and recovery in gene and mutation type-specific subgroups of long QT syndrome …
The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a …
L Crotti, C Spazzolini, PJ Schwartz, W Shimizu… - Circulation, 2007 - Am Heart Assoc
Background—The impressive clinical heterogeneity of the long-QT syndrome (LQTS)
remains partially unexplained. In a South African (SA) founder population, we identified a …
remains partially unexplained. In a South African (SA) founder population, we identified a …
[HTML][HTML] Cell model of catecholaminergic polymorphic ventricular tachycardia reveals early and delayed afterdepolarizations
K Kujala, J Paavola, A Lahti, K Larsson… - 2012 - journals.plos.org
Background Induced pluripotent stem cells (iPSC) provide means to study the
pathophysiology of genetic disorders. Catecholaminergic polymorphic ventricular …
pathophysiology of genetic disorders. Catecholaminergic polymorphic ventricular …