Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.

BACKGROUND: Jervell and Lange-Nielsen syndrome (Online Mendelian Inheritance in Man 220400) is a rare autosomal recessive cardioauditory ion channel disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval, ventricular tachyarrhythmias, and episodes of torsade de pointes on an electrocardiogram. Cardiac symptoms arise mostly in early childhood and consist of syncopal episodes during periods of stress, exercise, or fright and are associated with a high risk of sudden cardiac death. Jervell and Lange-Nielsen syndrome is caused by homozygous or compound heterozygous mutations in KCNQ1 on 11p15.5 or KCNE1 on 1q22.1-q22.2. CASE PRESENTATION: We report the case of a 10-year-old Moroccan boy with congenital hearing loss and severely prolonged QT interval who presented with multiple episodes of syncope. His parents are first-degree cousins. We performed Sanger sequencing and identified a homozygous variant in KCNQ1 (c.1343dupC, p.Glu449Argfs*14). CONCLUSIONS: The identification of the genetic substrate in this patient confirmed the clinical diagnosis of Jervell and Lange-Nielsen syndrome and allowed us to provide him with appropriate management and genetic counseling to his family. In addition, this finding contributes to our understanding of genetic disease in the Moroccan population.

[Pericardial hydatid disease: three case reports]. / Hydatidose péricardique: à propos de 3 observations.

Hydatid disease of the heart is very rare, representing about 0.2 to 2% of all cases. Most hydatid cysts of the heart are located within the left ventricular wall. Pericardial location is also very rare and patients present with various symptoms. US and CT have a primary role in the diagnostic workup of this disease.

[Postpartum cardiomyopathy revealed by acute lower limb ischemia]. / Cardiomyopathie du péripartum révélée par l'ischémie aiguë d'un membre inférieur.

Peripartum cardiomyopathy is an uncommon disease defined as a dilated cardiomyopathy during puerperium, with left ventricular dysfunction (ejection fraction < 45%) without any other etiology. The etiology of this disease remains uncertain and it can be revealed in a variety of ways. Thrombo-embolic complications may be, although infrequently, the initial manifestation of peripartum cardiomyopathy, which is usually an intracardiac thrombosis. Lower extremity embolism is uncommon. The case reported is about a 39-year-old woman, multiparous, who presented, 40 days after delivery, a global heart failure with atrial fibrillation, revealed by left lower extremity thromboembolism. After echocardiographic and etiologic examinations, the diagnosis was established as peripartum cardiomyopathy. It evolved favourably after 2 months of medical treatment: the symptoms and cardiomegaly decreased, left ventricular systolic function was improved.

[Stimulation probe, by involuntary transseptal ventricular trajectory]. / Stimulation ventriculaire gauche involontaire par passage transseptal ventriculaire (à propos d'une observation).

The introduction in the left ventricle of a stimulation probe, by an involuntary ventricular transseptal trajectory can pass unobserved during the implantation and can be revealed later on occasion of complications. It is a rarely described possibility and can have some serious consequences. We discuss through our observation ways to avoid this trap of the definitive cardiac stimulation.

Pharmacological therapy in children with nodal reentry tachycardia: when, how and how long to treat the affected patients.

Atrio-ventricular nodal reentrant tachycardia (AVNRT) is a rare supra-ventricular tachycardia (SVT) in children and becomes more frequent in adolescents. Most of children with an AVNRT have a healthy heart thus rarely experiencing severe symptoms. Because of haemodynamic instability or risk of complications, recurrences of SVT may require a chronic therapy. Interruption of dual atrio-ventricular nodal physiology is the basic mechanism to terminate AVNRT. This may be achieved by using anti-arrhythmic drugs or through Radiofrequency catheter ablation (RF). We aim to review the literature on the use of anti-arrhythmic drugs for the management of AVNRT in children aged more than 1 year and discuss the recommended dosages and the duration of a long term therapy. In the absence of comparative trials of risks and benefits between pharmacological therapy and RF and because of a greater clinical experience with anti-arrhythmic drugs, these last but not the least continue to be first-line therapy in the management of most SVT in children. Trials on pharmacotherapy in children with SVT in general and AVNRT in particular are lacking, use of anti-arrhythmic drugs being extrapolated from adult literature. Although Adenosine is becoming more used since it is the safest and effective drug in the acute setting, Digoxin continue to be the drug of first choice. Beta-blockers and Class I anti-arrhythmic are the second choice drugs with Flecainide being the preferred anti-arrhythmic drug for treatment failures. Amiodarone is rarely used as a chronic therapy in resistant cases. With the new advances in the RF technology, this therapy is becoming more safe and effective for AVNRT in children. Therefore, additional well-designed controlled trials are needed to further evaluate the comparative efficacy of anti-arrhythmic drugs in the management of AVNRT in children, as well as to evaluate dosing and toxicity in various age groups and determine the duration of a chronic therapy as compared to a potential RF.