Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.

Hutchinson-Gilford progeria is a rare genetic disorder resulting from mutations in the LMNA gene encoding lamin A/C. In addition to the classical phenotype usually caused by the 1824C>T mutation of LMNA, a number of atypical progeroid syndromes have been described. They have some distinct features, such as skeletal deformities or scleroderma-like skin changes.

['Weak' and 'strong' palpitations in a girl with atrioventricular nodal reentrant tachycardia--a case report].

We present a case of a 16-year-old girl with AVNRT with 1:1 or 2:1 conduction from the atria to ventricles which was perceived by the patient as two different types of palpitations.

[Role of the AV node and adrenergic stimulation in initiation of fascicular and atrioventricular nodal tachycardias--a case report].

Fascicular tachycardia is an uncommon form of left ventricular tachycardia in young patients with normal heart. Ventriculo-atrial conduction during VT is usually absent. Retrograde conduction was observed in a 14-year old boy with left posterior fascicular VT (LPF-VT) triggered by exercise.

Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation.

We present a 6-year-old girl with premature aging associated with mild myopathy, displaying muscle weakness, joint contractures and hyporeflexia. Genetic analysis revealed rare heterozygous point mutation in lamin A/C gene, g.428C>T.

Long-term cognitive outcome in teenage survivors of arrhythmic cardiac arrest.

Background: Sudden cardiac arrest (SCA) can be the first sign of ventricular arrhythmia in teenagers. Neurocognitive problems are common after successful resuscitation. We studied cognitive function in teenage survivors of SCA, including emotional status and coping ability.

Reversal of tacrolimus-related hypertrophic cardiomyopathy after conversion to rapamycin in a pediatric liver transplant recipient.

Tacrolimus (Tac)-related hypertrophic cardiomyopathy (HCM) has been reported to be an unusual but serious complication affecting pediatric patients after solid organ transplantation. Herein, we present a case of young liver transplant recipient with Tac-induced HCM, treated by discontinuation of Tac followed by conversion to rapamycin (Rap). Our case report points out the potential but rather low risk of HCM during Tac immunosuppression in pediatric liver transplants and demonstrates that replacement of calcineurin inhibitors with mammalian target of Rap (mTOR) inhibitors may be an efficacious therapeutic tool to effect regression of established cardiac hypertrophy.

Risk factors for cardiac arrhythmias in children with congenital heart disease after surgical intervention in the early postoperative period.

Objective: Early postoperative arrhythmias are a recognized complication of pediatric cardiac surgery.

Methods: Diagnosis and treatment of early postoperative arrhythmias were prospectively analyzed in 402 consecutive patients aged 1 day to 18 years (mean 29.5 months) who underwent operation between January and December 2005 at our institute.

[Morgagni-Adams-Stokes after adenosine injection in a patient with WPW syndrome--a case report].

A case of a 16-year-old girl with left sided accessory pathway is presented. Following adenosine-induced termination of atrio-ventricular reentrant tachycardia the patient developed polymorphic ventricular tachycardia followed by preexcited atrial fibrillation with very rapid ventricular response and syncope. Arrhythmia was terminated by amiodarone infusion.

[Symptomatic recurrent bradycardia--always an indication for pacemaker implantation? The role of RF ablation for incessant focal tachycardia from AV node region and advanced AV nodal block].

We present a case of a 17-year-old patient in whom recurrent bradycardia and syncope episodes were present. During the pathological bradycardia incessant runs of irregular tachycardia from the region of atrial extension of AV node were observed. The bradycardia runs were due to advanced functional AV nodal block.