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Topic: Long QT syndrome type 2

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	Long QT syndrome - Wikipedia, the free encyclopedia
		The long QT syndrome (LQTS) is a heart disease in which there is an abnormally long delay between the electrical excitation (or depolarization) and relaxation (repolarization) of the ventricles of the heart.
		The LQT3 type of long QT syndrome involves mutation of the gene that encodes the alpha subunit of the Na
		The syndrome is characterized by Long QT syndrome with ventricular arrhythmias, periodic paralysis and skeletal developmental abnormalies as clinodactyly, low-set ears and micrognathia.
	en.wikipedia.org /wiki/Long_QT_syndrome (1716 words)

	Sudden Arrhythmia Death Syndromes (SADS) Foundation.
		The QT interval is a quantity measured on the electrocardiogram (ECG or EKG).
		In the long QT syndrome, the duration of repolarization is longer than normal, thus, the QT interval is prolonged.
		This is manifest on the electrocardiogram (ECG, EKG) by a prolonged QT interval.
	www.sads.org /LQTS.html (2918 words)

	Long QT syndrome: from channels to cardiac arrhythmias -- Moss and Kass 115 (8): 2018 -- Journal of Clinical ...
		of QT interval prolongation and cardiac arrhythmias (17, 18).
		of ventricular repolarization and lengthening of the QT interval.
		Epinephrine-induced QT interval prolongation: a gene-specific paradoxical response in congenital long QT syndrome.
	www.jci.org /cgi/content/full/115/8/2018 (4589 words)

	s000626c - Long QT Syndrome - Congenital & Acquired
		The long QT syndrome: new diagnostic and therapeutic approach in the era of molecular biology.
		Long QT syndrome is an inherited disease that few years ago was still called "idiopathic" as the underlying causes were unknown.
		Abstract: The idiopathic long QT syndrome is a congenital disease characterized by prolongation of the QT interval and by stress-induced syncopal episodes caused by the development of "torsades de pointes".
	www.emory.edu /WHSCL/grady/amreport/litsrch99/s000626c.html (6297 words)

	UpToDate Genetics of congenital and acquired long QT syndrome
		— The long QT syndrome (LQTS) is the phenotypic description of a group of disorders characterized by a prolonged QT interval in association with a characteristic arrhythmia, polymorphic ventricular tachycardia.
		The Romano-Ward syndrome is transmitted as an autosomal dominant trait and is characterized clinically by LQTS without deafness (cardiac phenotype); it may result from any of the underlying mutations thus far found in LQTS or other as yet unidentified mutations (show table 1) [2-4,6,8].
		The Jervell and Lange-Nielsen syndrome is transmitted as an autosomal recessive trait and is characterized clinically by LQTS and sensorineural deafness.
	patients.uptodate.com /topic.asp?file=carrhyth/43482 (614 words)

	Genaissance - Long QT Syndrome (Site not responding. Last check: 2007-11-07)
		At least one group of researchers believes that long QT syndrome is a cause of sudden infant death syndrome (SIDS) [2].
		Possibly, there are other genes involved in long QT syndrome or the current methods of detecting genetic variants may not be comprehensive enough [3].
		Prolongation of the QT interval and the sudden infant death syndrome.
	www.genaissance.com /pharmacogenomics/longQT_Syndrome.asp (2028 words)

	Genetics of Sudden Cardiac Death
		Long QT Syndrome is a disorder of the electrical system of the heart.
		The first, Long QT Syndrome Type 1, is due to a mutation in the membrane protein that regulates the flow of potassium into the heart cells after contraction.
		Long QT Syndrome Type 3, results from defects in a third ion channel that regulates the flow of sodium during the initiation of a contraction.
	www.miamiheartresearch.org /Projects/Genetics/Genetics.htm (845 words)

	eMedicine - Long QT Syndrome : Article by Wojciech Zareba, MD, PhD, FACC
		Background: Long QT syndrome (LQTS) is a congenital disorder characterized by a prolongation of the QT interval on electrocardiogram (ECG) and a propensity to ventricular tachyarrhythmias, which may lead to syncope, cardiac arrest, or sudden death.
		Pathophysiology: The QT interval on the ECG, measured from the beginning of the QRS complex to the end of the T wave, represents the duration of activation and recovery of the ventricular myocardium.
		QT prolongation in LQTS is due to overload of myocardial cells with positively charged ions during ventricular repolarization.
	www.emedicine.com /med/topic1983.htm (4028 words)

	Response of the QT interval to mental and physical stress in types LQT1 and LQT2 of the long QT syndrome -- Paavonen et ...
		Response of the QT interval to mental and physical stress in types LQT1 and LQT2 of the long QT syndrome -- Paavonen et al.
		QT interval to mental and physical stress in types LQT1 and LQT2 of the long QT syndrome
		The inherited long QT syndrome (LQTS) is a myocardial ion channel disease characterised by prolongation of the QT interval
	heart.bmjjournals.com /cgi/content/full/86/1/39 (3321 words)

	UpToDate Clinical features and diagnosis of congenital long QT syndrome
		— The long QT syndrome (LQTS) is a disorder of myocardial repolarization characterized by a prolonged QT interval on the electrocardiogram (ECG) (show ECG 1 and show ECG 2) and an increased risk of sudden cardiac death [1-3].
		This syndrome is associated with an increased risk of a characteristic life-threatening cardiac arrhythmia, known as torsade de pointes or "twisting of the points" (show ECG 3A-3B) [4,5].
		The long QT syndrome may be congenital or acquired [6-9].
	patients.uptodate.com /topic.asp?file=ped_card/5094 (433 words)

	GeneDis Congenital Long QT Syndrome Mutation Web Site
		Congenital Long QT Syndrome is a human genetic disease caused due to mutations in the SCN5A, KCNH2, KCNE1 and KCNQ1.
		The long QT syndrome is a familial disease characterized by abnormally prolonged ventricular repolarization and a high risk of malignant ventricular tachyarrhythmias, occurring often, but not always, in the setting of high adrenergic activity, that is, physical or emotional stress (6).
		Defects in SCN5A is the cause of long qt syndrome type 3 (lqt3), an autosomal dominant cardiac disease characterized by recurrent syncope and sudden cardiac death.
	life2.tau.ac.il /GeneDis/Tables/Long_Qt/long_qt.html (771 words)

	QTsyndrome.ch - Frequently Asked Questions (FAQ)
		The name of the long QT syndrome refers to the QT-interval measured on the electrocardiogram (ECG or EKG for the German term "Elektrokardiogramm").
		It is generally estimated that approximately 10% to 12% of all patients with long QT syndrome show a normal QT-interval on their ECG.
		Because of the prolongation of the QT-interval, AS is considered a subtype of long QT syndrome.
	www.qtsyndrome.ch /faq.html (2057 words)

	Turner Syndrome
		In some cases of Turner Syndrome, however, one X chromosome is missing from the cells (45,X); research studies suggest that approximately 40 percent of these individuals may have some Y chromosomal material in addition to the one X chromosome.
		Turner Syndrome is a rare chromosomal disorder that occurs in females due to the absence of or defects in one X chromosome.
		The diagnosis of Turner Syndrome is made by a blood test that examines the chromosomes under a microscope (karyotyping) and detects a missing or abnormal X chromosome.
	hw.healthdialog.com /kbase/nord/nord112.htm (2025 words)

	Ventricular tachycardia during general anesthesia in a patient with congenital long QT syndrome: [La tachycardie ...
		The arrhythmogenic substrate of the long QT syndrome: genetic basis, pathology, and pathophysiologic mechanisms.
		Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na channel blockade and to increases in heart rate.
		Effects of sevoflurane on QT interval in a patient with congenital long QT syndrome.
	www.cja-jca.org /cgi/content/full/50/4/398 (2186 words)

	Cytosolic Ca2+ triggers early afterdepolarizations and Torsade de Pointes in rabbit hearts with type 2 long QT syndrome ...
		The general consensus is that long QT-related arrhythmias are elicited by early afterdepolarizations (EADs) and that an enhanced dispersion of repolarization may be required to provide a substrate to promote reentrant arrhythmias (Surawicz, 1989).
		The long QT syndrome (LQTS) is a repolarization disorder characterized by marked prolongation of the QT interval.
		A hallmark of long QT syndrome is the recurrent syncope during episodes of polymorphic VT, called Torsade de Pointes (TdP) (Dessertenne, 1966).
	jp.physoc.org /cgi/content/full/543/2/615 (9860 words)

	Selective Knockout of Mouse ERG1 B Potassium Channel Eliminates IKr in Adult Ventricular Myocytes and Elicits Episodes ...
		QT interval prolongation and arrhythmias in heterozygous MERG1-targeted mice.
		Vincent, G. The molecular genetics of the long QT syndrome: genes causing fainting and sudden death.
		Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.
	mcb.asm.org /cgi/content/full/23/6/1856 (4518 words)

	GeneCard for KCNH2 (Site not responding. Last check: 2007-11-07)
		A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency.
		A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.
		Missense mutation in the pore region of HERG causes familial long QT syndrome.
	bioinfo.cnio.es /cgi-bin/genecards/carddisp?KCNH2 (816 words)

	Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome -- Ficker et al. 279 ...
		Hereditary long QT syndrome (hLQTS) is a heterogeneous genetic disease characterized by prolonged QT interval in the electrocardiogram,
		To evaluate effects of incubation temperature on current expression, HEK293 cells were transfected with either 2 µg HERG WT or 2 µg HERG R752W cDNA and incubated for 2 days at 26 or 37°C as indicated.
		Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation.
	ajpheart.physiology.org /cgi/content/full/279/4/H1748 (5123 words)

	Romano Ward Syndrome
		It is possible that the main title of the report Romano Ward Syndrome is not the name you expected.
		Romano-Ward syndrome is an inherited heart (cardiac) disorder characterized by abnormalities affecting the electrical system of the heart.
		Romano-Ward syndrome is inherited as an autosomal dominant trait.
	www.peacehealth.org /kbase/nord/nord407.htm (364 words)

	Screening for Mutations and Polymorphisms in the Genes KCNH2 and KCNE2 Encoding the Cardiac HERG/MiRP1 Ion Channel: ...
		Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.
		A plethora of mechanisms in the HERG-related long QT syndrome.
		QT interval is linked to 2 long-QT syndrome loci in normal subjects.
	www.clinchem.org /cgi/content/full/47/8/1390 (2957 words)

	Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada ...
		(1997) KCNE1 mutations cause Jervell and Lange-Nielsen syndrome.
		25 Deschenes,I., Baroudi,G., Berthet,M., Barde,I., Chalvidan,T., Denjoy,I., Guicheney,P. and Chahine,M. (2000) Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes.
		R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese
	hmg.oupjournals.org /cgi/content/full/11/3/337 (4419 words)

	14-3-3 amplifies and prolongs adrenergic stimulation of HERG K+ channel activity -- Kagan et al. 21 (8): 1889 -- The ... (Site not responding. Last check: 2007-11-07)
		Chiang,C.E. and Roden,D.M. (2000) The long QT syndromes: genetic basis and clinical implications.
		Roden,D.M. and Balser,J.R. (1999) A plethora of mechanisms in the HERG-related long QT syndrome.
		Vincent,G.M. (1998) The molecular genetics of the long QT syndrome: genes causing fainting and sudden death.
	embojournal.npgjournals.com /cgi/content/full/21/8/1889 (4938 words)

	Keratitis Ichthyosis Deafness Syndrome
		Keratitis Ichthyosis Deafness (KID) Syndrome is a very rare disorder that occurs most often for no apparent reason but has also been linked to an autosomal recessive trait.
		It is characterized by inflammation of the eyes corneas (keratitis), fixed hardened skin scales (plaques) on the extremities and face, thick hardened skin on the palms of the hands and the soles of the feet, and deafness.
		Patients diagnosed with keratitis ichthyosis deafness syndrome, progressive symmetric erythrokeratodermia, or palmoplantar keratoderma associated with deafness or hearing impairment are invited to participate in genetic studies being conducted at the Thomas Jefferson University.
	hw.healthdialog.com /kbase/nord/nord884.htm (1624 words)

	Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple ...
		Franqueza, L., Lin, M., Shen, J., Splawski, I., Keating, M. T., Sanguinetti, M. (1999) Long QT syndrome-associated mutations in the S4–S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits.
		Ackerman, M. (1998) The long QT syndrome: ion channel diseases of the heart.
		Sanguinetti, M. (2000) Long QT syndrome: ionic basis and arrhythmia mechanism in long QT syndrome type 1.
	www.fasebj.org /cgi/content/full/16/3/390 (5275 words)

	Single-Channel Characteristics of Wild-Type IKs Channels and Channels formed with Two MinK Mutants that Cause Long QT ...
		Channels and Channels formed with Two MinK Mutants that Cause Long QT Syndrome
		CHO, Chinese hamster ovary; LQTS, long QT syndrome.
		Mutations in the hminK gene cause long QT syndrome and suppress IKs function.
	www.jgp.org /cgi/content/full/112/6/651 (5291 words)

	Exercise and the Long QT Syndrome (Site not responding. Last check: 2007-11-07)
		Here is some background and guidelines for determining what is appropriate advice for patients with LQTS and their family members and friends.
		These patients should see a Long QT expert to discuss a change in therapy.
		Consultation with a physician with expertise in Long QT Syndrome may help refine the exercise "prescription" advice based on the known or suspected gene involved.
	www.sads.ca /text/exerkrah.htm (418 words)

	Single-Channel Characteristics of Wild-Type IKs Channels and Channels formed with Two MinK Mutants that Cause Long QT ...
		The long QT syndromes: genetic basis and clinical implications
		Spectrum of Mutations in Long-QT Syndrome Genes : KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
		Long QT Syndrome-associated Mutations in the S4-S5 Linker of KvLQT1 Potassium Channels Modify Gating and Interaction with minK Subunits
	www.jgp.org /cgi/content/abstract/112/6/651 (1004 words)

	Interaction with GM130 during HERG ion channel trafficking. Disruption by type 2 congenital long QT syndrome mutations. ...
		Disruption by type 2 congenital long QT syndrome mutations.
		Human Ether-?-go-go-Related Gene.Many mutations in the Human Ether-?-go-go-Related Gene (HERG) cause type 2 congenital long QT syndrome (LQT2) by disrupting trafficking of the HERG-encoded potassium channel.
		Beyond observations that some mutations trap channels in the endoplasmic reticulum, little is known about how trafficking fails.
	www.pdg.cnb.uam.es /UniPub/iHOP/gp/9292797.html (283 words)

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