RT-18
|
Low penetrance mutations and compound heterozygosity in LQTS: phenotypic consequences and implications for the clinical presentation of the disease
|
|
|
Carlo Napolitano, Raffaella Bloise, Elena Ronchetti, Mirella Memmi, Peter J Schwartz*, Silvia G. Priori.
Laboratories, Fondazione Salvatore Maugeri IRCCS, Pavia, *Dept of Cardiology, Policlinico S. Matteo IRCCS, Pavia, Italy
|
|
References
|
1.
|
PRIORI SG, BARHANIN J, HAUER RNW, ET AL:
Genetic and molecular basis of cardiac arrhythmias: impact on clinical management. Part I and II.
Circulation 1999; 99: 518-528, and Eur Heart J 1999; 20: 174-195.
|
2.
|
SCHWARTZ PJ:
Idiopathic long QT syndrome: progress and questions.
Am Heart J 1985; 109: 399-411.
|
3.
|
SCHWARTZ PJ, PRIORI SG, NAPOLITANO C:
Long QT syndrome. In: ZIPES DP, JALIFE J (eds): Cardiac electrophysiology. From cell to bedside, III edition.
Philadelphia, WB Saunders, 2000; 597-615.
|
4.
|
ABBOTT GW, SESTI F, SPLAWSKI I, ET AL:
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.
Cell 1999; 97: 175-187.
|
5.
|
PRIORI SG, NAPOLITANO C, SCHWARTZ PJ, ET AL:
Variable phenotype of long QT syndrome patients with the same genetic defect (abstract).
JACC 1998; 30 (Suppl): 869-874.
|
6.
|
NAPOLITANO C, PRIORI SG, SCHWARTZ PJ, ET AL:
Identification of a mutational hot spot in HERG-related long QT syndrome (LQT2): phenotypic implications (abstract).
Circulation 1997; 96 (Suppl): 212.
|
7.
|
VINCENT GM, TIMOTHY KW, LEPPERT M, KEATING M:
The spectrum of symptoms and QT intervals in carriers of the gene for the long QT syndrome.
New Engl J Med 1992; 327: 846-852.
|
8.
|
PRIORI SG, NAPOLITANO C, SCHWARTZ PJ:
Low penetrance in the long QT syndrome. Clinical impact.
Circulation 1999; 99: 529-533.
|
9.
|
PRIORI SG, SCHWARTZ PJ, NAPOLITANO C, ET AL:
A recessive variant of the Romano-Ward long QT syndrome?
Circulation 1998; 97: 2420-2425.
|
10.
|
NAPOLITANO C, PRIORI SG, SCHWARTZ PJ, ET AL:
Identification of a long QT syndrome molecular defect in drug-induced torsades de pointes (abstract).
Circulation 1997; 96 (Suppl): 211.
|
11.
|
SCHULZE-BAHR E, HAVERKAMP W, HÖRDT M, ET AL:
A genetic basis for quinidine-induced (acquired) long QT syndrome (abstract).
Eur Heart J 1997; 18: 29.
|
12.
|
WEI J, ABBOTT GW, SESTI F, ET AL:
Prevalence of KCNE2 (Mirp1) mutations in acquired long QT syndrome (abstract).
Circulation 1999; 100: I-495.
|
13.
|
WEI J, YANG ICH, TAPPER AR, ET AL:
KCNE1 polymorphism confers risk of drug-induced long QT syndrome by altering kinetic properties of IKs potassium current (abstract).
Circulation 1999; 100: I-495.
|
14.
|
NAPOLITANO C, MEMMI M, RONCHETTI E, ET AL:
Silent mutation on cardiac ion channel genes and sudden death: a lesson from the long QT syndrome (abstract).
Circulation 99 (Suppl 1): I-8.
|
15.
|
PRIORI SG, NAPOLITANO C, RONCHETTI E, ET AL:
Characterization of the prevalence of minK polymorphisms and mutations in 140 long QT syndrome families.
PACE 1998; 21: 799.
|
16.
|
BERTHET M, DENJOY I, DONGER C, ET AL:
C-terminal HERG mutations. The role of hypokalemia and KCNQ1-associated mutation in cardiac event occurrence.
Circulation 1999; 99: 1464-1470.
|
