How really rare are rare diseases?: The intriguing case of independent compound mutations in the long QT syndrome

被引：91

作者：

Schwartz, PJ

Priori, SG

Napolitano, C

机构：

[1] Policlin San Matteo, IRCCS, Dept Cardiol, I-27100 Pavia, Italy

[2] Univ Pavia, I-27100 Pavia, Italy

[3] IRCCS, Fdn Maugeri, Pavia, Italy

来源：

JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY | 2003年 / 14卷 / 10期

关键词：

D O I：

10.1046/j.1540-8167.2003.03339.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：1120 / 1121

页数：2

共 11 条

[1] C-terminal HERG mutations -: The role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence [J].

Berthet, M ;

Denjoy, I ;

Donger, C ;

Demay, L ;

Hammoude, H ;

Klug, D ;

Schulze-Bahr, E ;

Richard, P ;

Funke, H ;

Schwartz, K ;

Coumel, P ;

Hainque, B ;

Guicheney, P .

CIRCULATION, 1999, 99 (11) :1464-1470

[2] The Long QT Syndromes: Genetic basis and clinical implications [J].

Chiang, CE ;

Roden, DM .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2000, 36 (01) :1-12

[3] The Long-QT Syndrome [J].

Moss, AJ ;

Robinson, JL .

CIRCULATION, 2002, 105 (07) :784-786

[4] THE LONG QT SYNDROME - PROSPECTIVE LONGITUDINAL-STUDY OF 328 FAMILIES [J].

MOSS, AJ ;

SCHWARTZ, PJ ;

CRAMPTON, RS ;

TZIVONI, D ;

LOCATI, EH ;

MACCLUER, J ;

HALL, WJ ;

WEITKAMP, L ;

VINCENT, GM ;

GARSON, A ;

ROBINSON, JL ;

BENHORIN, J ;

CHOI, SS .

CIRCULATION, 1991, 84 (03) :1136-1144

[5] Evidence for a cardiac ion channel mutation underlying drug-induced QT prolongation and life-threatening arrhythmias [J].

Napolitano, C ;

Schwartz, PJ ;

Brown, AM ;

Ronchetti, E ;

Bianchi, L ;

Pinnavaia, A ;

Acquaro, G ;

Priori, SG .

JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, 2000, 11 (06) :691-696

[6] Catecholamine-induced T-wave lability in congenital long QT syndrome: A novel phenomenon associated with syncope and cardiac arrest [J].

Nemec, J ;

Hejlik, JB ;

Shen, WK ;

Ackerman, MJ .

MAYO CLINIC PROCEEDINGS, 2003, 78 (01) :40-50

[7] Low penetrance in the long-QT syndrome - Clinical impact [J].

Priori, SG ;

Napolitano, C ;

Schwartz, PJ .

CIRCULATION, 1999, 99 (04) :529-533

[8]

PRIORI SG, 1998, PACING CLIN ELECTROP, V21, P799

[9] Taking the "idio" out of "idiosyncratic": Predicting torsades de pointes [J].

Roden, DM .

PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY, 1998, 21 (05) :1029-1034

[10] SUDDEN CARDIAC DEATH IN HEART-FAILURE - THE ROLE OF ABNORMAL REPOLARIZATION [J].

TOMASELLI, GF ;

BEUCKELMANN, DJ ;

CALKINS, HG ;

BERGER, RD ;

KESSLER, PD ;

LAWRENCE, JH ;

KASS, D ;

FELDMAN, AM ;

MARBAN, E .

CIRCULATION, 1994, 90 (05) :2534-2539

← 1 2 →