Novel insight into the natural history of short QT syndrome.

Mazzanti A1, Kanthan A1, Monteforte N1, Memmi M1, Bloise R1, Novelli V1, Miceli C1, O'Rourke S2, Borio G1, Zienciuk-Krajka A3, Curcio A1, Surducan AE4,Colombo M4, Napolitano C5, Priori SG6.

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Abstract

OBJECTIVES:

This study intends to gain further insights into the natural history, the yield of familial and genetic screening, and the arrhythmogenic mechanisms in the largest cohort of short QT syndrome (SQTS) patients described so far.

BACKGROUND:

SQTS is a rare genetic disorder associated with life-threatening arrhythmias, and its natural history is incompletely ascertained.

METHODS:

Seventy-three SQTS patients (84% male; age, 26 ± 15 years; corrected QT interval, 329 ± 22 ms) were studied, and 62 were followed for 60 ± 41 months (median, 56 months).

RESULTS:

Cardiac arrest (CA) was the most frequent presenting symptom (40% of probands; range, <1 0.0000001="" 1.3="" 20="" 40="" 41="" 44="" 4="" a="" age="" and="" arrhythmias="" at="" being="" between="" by="" ca.="" ca="" despite="" disease="" familial="" female="" fibrillation="" first="" follow-up="" genetic="" had="" history="" in="" kindreds.="" life="" low="" mainly="" male="" men="" month="" multiple="" observed="" occurred="" occurrence="" occurrences="" of="" only="" onset="" p="" patients="" patterns="" per="" predictor="" predominance="" present="" probability="" profile="" rate="" recurrences="" reproducible="" rest.="" risk="" screening="" superimposable="" that="" the="" to="" two="" ventricular="" was="" were="" with="" year="" years="" yield="">

CONCLUSIONS:

SQTS is highly lethal; CA is often the first manifestation of the disease with a peak incidence in the first year of life. Survivors of CA have a high CA recurrence rate; therefore, implantation of a defibrillator is strongly recommended in this group of patients.

Journal Club

Tuesday, May 20, 2014

Short QT syndrome