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.

[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.

[Acute myocardial infarction revealing a pheochromocytoma: a case report]. / Infarctus du myocarde révélant un phéochromocytome : à propos d'un cas.

We report a case of a 38-year-old woman with pheochromocytoma admitted to our department for an acute myocardial infarction. The diagnosis of pheochromocytoma was evoked in view of the major pressure variations that appeared secondarily. Pheochromocytoma is mainly medullosurrenal tumour with clinical polymorphism; it can lead to severe cardiovascular disorders. Nevertheless, cardiac involvement is rarely in the foreground. Our clinical case illustrates the importance to evoke the diagnosis of pheochromocytoma in front of atypical manifestations of acute coronary syndrome so as to reduce mortality.

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.

[Percutaneous mitral valvuloplasty in the pregnant woman Moroccan experience]. / Valvuloplastie mitrale percutanée chez la femme enceinte: expérience marocaine.

Pregnancy is one of the most important factors known to destabilize valvular heart disease. In particular, pregnancy is a major cause of aggravation in the clinical course of women with mitral stenosis (MS). Surgical treatment of MS during pregnancy may be hazardous for both mother and foetus. In this context, percutaneous mitral valvuloplasty using the Inoue balloon may constitute a particularly attractive alternative to surgery. We report the results of percutaneous mitral valvuloplasty achieved in a series of 11 pregnant women.

[Arrhythmogenic right ventricular dysplasia. Report of 4 cases]. / La dysplasie ventriculaire droite arythmogene. A propos de 4 cas.

Arythmogenic right ventricular dysplasia (ARVD) was supposed to be a part of VHL diseases; ARVD is in fact a well defined anatomo-pathological entity, originally described by Fontaine and Frank in 1977. The authors report 4 new cases of ARVD were desmitted at the department of cardio A. The disease was announced by the usual rhythmic disorders. The diagnostics of ARVD was based upon a bundle of electrical, echocardiographic and histological arguments. The rhythmic stability was obtained in three cases with medical treatment, the endocavity ablation was necessary in one case. A study of the diagnostic and therapeutic forms is performed from a literature review.

Difficult percutaneous mitral commissurotomy: failure of the Inoue balloon technique and successful double-balloon technique.

From December 1994 to May 1999, 487 patients underwent percutaneous transvenous mitral commissurotomy according to the Inoue balloon technique for tight mitral stenosis. In three cases, the Inoue balloon technique was not possible because the catheter balloon could not enter the mitral orifice and the double-balloon technique was performed instead. In two cases, a flow-guided balloon catheter met the mitral orifice and the double-balloon technique was effective. In the third case, passing the valve with a flow balloon catheter was impossible, a 0.032" Terumo straight wire crossed the valve, which was dilated with a single balloon the first time and a double balloon the second time. The mitral valve area increased in the three cases from 0.8 to 1.8 cm2, from 0.7 to 1.6 cm2, and from 0.5 to 1.5 cm2, respectively. There were no complications.

[Mixed form of total anomalous pulmonary venous connection: apropos of a case]. / Forme mixte du retour veineux pulmonaire anormal total: a propos d'un cas.

As opposed to partial anomalous of pulmonary venous connection, it is frequent and benigns, the total anomalous of pulmonary venous connection is extremely rare and more serious. The anomalous is severe because all pulmonary venous connection, instead of left heart it go to the right heart. The age of diagnosis is closely tied up anatomics characteristics, so various clinical cases are present. The TAPVC of new born is a surgical emergency, especially where it's block up and release++ cardiorespiratory distress syndrome secondary to OAP. For great children, the total anomlous of pulmonary venous connection can be assumed to a case of atrial septal defect. This study intend to clear up this clinical and anatomical polymorphism and to report an exceptional-form of this congenital anomaly which is mixed total anomalous of pulmonary venous connection.