Mitral annulus disjunction (MAD) and Pickelhaube sign are increasingly identified as risk factors for malignant ventricular arrhythmias (VAs) and sudden cardiac death in adults with mitral valve prolapse (MVP). Their prevalence and consequences in children have never been studied.

To determine MAD prevalence in children with MVP and its potential link with Vas.

A cohort of 49 consecutive children from a single institution (age 12.8±3.0, 33 females) with MVP and comprehensive clinical, arrhythmia (24-h Holter monitoring and exercise test) and doppler echocardiographic characterization including pulsed wave tissue doppler (PWTD) of the lateral mitral annulus was identified. The relationship between clinical and echocardiographic data and the presence of VAs was studied.

The presence of MAD was common (n=25, 51%). Only 5 patients had significant VAs (lown>2) characterized by polymorphic premature ventricular contractions or couplets. The presence of MAD was not associated with significant VAs on 24h-Holter monitoring but an association was found between significant VAs and spiked high velocity midsystolic signal>16cm/s on PWTD of the lateral mitral annulus (Pickelhaube sign, Fig. 1) (P=0.004), myxomatous mitral valve (P=0.004) and left ventricular dilatation (P=0.01). No patient had severe VAs characterized by ventricular tachycardia nor symptoms of dysrhythmia. Four out of 7 patients (57%) with coexisting Pickelhaube sign and myxomatous mitral valve had significant VAs. No difference was found between patients with or without MAD for gender, history of palpitation, severity of mitral regurgitation, incidence of connective tissue disorders and medications with beta-blockers or ACE inhibitors.

MAD is a common finding in children with MVP. Its presence was not associated with significant VAs on 24-hour Holter monitoring, but the Pickelhaube sign and the presence of myxomatous mitral valve may help to detect patients prone to significant VAs.