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. The underlying defect is usually a homozygous mutation of LMNA, or a combined defect of LMNA and another gene, for example, ZMPSTE-24. We present a 2-year-old girl born to consanguineous parents affected by progeroid syndrome with scleroderma-like skin changes. Genetic analysis revealed the homozygous LMNA mutation 1303C>T (R435C). The same heterozygous mutation was found in the patient's parents and 11 other family members. The progeroid syndrome in our patient shares the signs of two laminopathies: progeria and restrictive dermatopathy. Two other children in the family died at the age of 2 due to a disease similar to that in the proposita. On the basis of the family pedigree we presume that these children probably had the same homozygous LMNA mutation. Scleroderma-like skin changes in infants, associated with growth retardation and dysmorphic features, suggest premature aging syndrome, requiring genetic testing and counseling of asymptomatic carriers of LMNA mutations.

['Weak' and 'strong' palpitations in a girl with atrioventricular nodal reentrant tachycardia--a case report]. / Napady "slabego" lub "mocnego" kolatania serca u chorej z nawrotnym czestoskurczem wezlowym.

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]. / Rola wezla przedsionkowo-komorowego oraz stymulacji adrenergicznej w zawiazaniu czestoskurczu peczkowego i wezlowego--opis przypadku.

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. During isoproterenol infusion, atrial stimulation induced a cascade of arrhythmias--echo, pair or runs of AVNRT and fascicular tachycardia triggered by fascicular beats. Also, during infusion LPF-VT was initiated spontaneously. After successful ablation of VT, sustained typical AVNRT was inducible. Finally, ablation of slow pathway of AV node was performed. After ablation,no arrhythmia was inducible following isoproterenol and 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. Cardiological evaluation showed atrial fibrillation, but we did not find signs of coronary heart disease, which is life-threatening cardiovascular complication in progeria. Electron microscopy of the muscle revealed abnormalities in nuclear architecture, i.e. blebbing, thick lamina and peripheral distribution of heterochromatin. As some diagnostic criteria characteristic for classic progeria are not fulfilled, this case could be regarded as atypical progeria associated with myopathy and atrial fibrillation. To our knowledge, this is the second case of such association described in the literature.

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. METHOD: Ten SCA survivors, aged 11-19 years, had neuropsychological tests within a few weeks of resuscitation. Awareness status, orientation, episodic and semantic memory, basic auditory-visual functions, praxis and speech, short-term memory, ability to learn new verbal and visual material were assessed. These tests were repeated at about 6 months. RESULTS: Eight patients had an initial assessment; one boy remained in a coma and one was making simple emotional contact, revealing intensified mixed aphasia and dyskinesia. Six patients had severe disturbances of memory, motor functions and praxis. After 6 months, four patients had no neurocognitive disturbance. Four patients had memory impairment making school education difficult. Two patients were totally dependent on caregivers. Because of the absence of symptoms before SCA, and amnesia relating to the SCA episodes, patients had problems accepting their heart problems and limitations resulting from it. CONCLUSION: Teenagers surviving SCA have significant neurcognitive and psychological problems. They need psychological care and guidance in understanding their condition.

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. All children were admitted to the intensive care unit, and continuous electrocardiogram monitoring was performed. Risk factors, such as age, weight, Aristotle Basic Score, cardiopulmonary bypass time, aortic crossclamp time, and use of deep hypothermia and circulatory arrest, were compared. Statistical analysis using the Student t test, Mann-Whitney U test, or Fisher exact test was performed. Multivariate stepwise logistic regression was used to assess the risk factors of postoperative arrhythmias. RESULTS: Arrhythmias occurred in 57 of 402 patients (14.2%). The most common types of arrhythmia were junctional ectopic tachycardia (21), supraventricular tachycardia (15), and arteriovenous block (6). Risk factors for arrhythmias, such as lower age (P = .0041*), lower body weight (P = .000001*), higher Aristotle Basic Score (P = .000001*), longer cardiopulmonary bypass time (P = .000001*), aortic crossclamp time (P = .000001*), and use of deep hypothermia and circulatory arrest (P = .0188*), were identified in a univariate analysis. In the multivariate stepwise logistic regression, only higher Aristotle Basic Score was statistically significant (P = .000003*) compared with weight (P = .62) and age (P = .40); in the cardiopulmonary bypass group, only longer aortic crossclamp time was statistically significant (P = .007*). CONCLUSION: Lower age, lower body weight, higher Aristotle Basic Score, longer cardiopulmonary bypass time, aortic crossclamp time, and use of deep hypothermia and circulatory arrest are the risk factors for postoperative arrhythmias. Junctional ectopic tachycardia and supraventricular tachycardia were the most common postoperative arrhythmias.

[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]. / Objawowa bradykardia--czy zawsze jest wskazaniem do wszczepienia ukladu stymulujacego? Rola ablacji.

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. The patient was qualified for pacemaker implantation and antiarrhythmic treatment by his GP. Successful ablation of atrial tachycardia revealed that SA and AV node properties were in the normal range; therefore no pacemaker implantation was needed.

[Morgagni-Adams-Stokes after adenosine injection in a patient with WPW syndrome--a case report]. / Zespól Morgagni-Adams-Stockesa po wstrzyknieciu adenozyny u pacjentki z zespolem WPW.

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. Potential complications after adenosine injection are discussed.