基因检测在肥厚型心肌病患者优生优育和治疗中的指导作用

目的:评价基因检测在指导肥厚型心肌病(HCM)女性患者受孕方式选择及发现有患病风险的一级家属家族成员的意义与价值。方法:对1例39岁女性患者进行详细临床评估及遗传基因检测,并对其家族成员进行特定性突变基因检测,根据检测结果指导患者选择合适受孕方式,评估家族成员患病风险,并对其提供临床咨询。结果:超声心动图提示HCM,基因检测发现心肌肌钙蛋白I(TNNI3)基因c.700g>a杂合子突变,突变位点处在TNNI3基因保守区域。给予患者植入式体内自动除颤器置入作为一级预防,并建议其通过健康女性卵子捐献体外受精方式再次生育。4位家族成员进行特定突变检测,未发现相同突变,避免了不必要的临床评估及长期随访。结论:对于已知先证者致病基因突变,家族成员进行特定性突变基因检测,不但能够对受累个体提供重要临床咨询,并且能指导其家族成员及后代将来的管理与治疗。     

Long-Term Follow-Up in Patients with the Permanent Form of Junctional Reciprocating Tachycardia Treated with Radiofrequency Ablation

This study sought to determine the long-term follow-up, safety, and efficacy of radiofrequency catheter ablation of patients with the permanent form of junctional reciprocating tachycardia (PJRT). We assessed the reversibility of tachycardia induced LV dysfunction and we detailed the location and electrophysiological characteristics of these retrograde atrioventricular decremental pathways. PJRT is an infrequent form of reciprocating tachycardia, commonly incessant, and usually drug refractory. The ECG hallmarks include an RP interval > PR with inverted P waves in leads II, III, aVF, and V₃-V₆. During tachycardia, retrograde VA conduction occurs over an accessory pathway with slow and decremental conduction properties, located predominantly in the posteroseptal zone. It is known that long-lasting and incessant tachycardia may result in tachycardia induced severe ventricular dysfunction. We included 36 patients (13 men, 23 women, mean ± SD, aged 44 ± 22 years) with the diagnosis of PJRT. Seven patients had tachycardia induced left ventricular dysfunction. Radiofrequency energy was delivered at the site of earliest retrograde atrial activation during ventricular pacing or during reciprocating tachycardia. All patients were followed at the outpatient clinic and serial echocardiograms were performed in those who presented with depressed LV function. Radiofrequency ablation was performed in 36 decremental accessory pathways. Earliest retrograde atrial activation was righ t posteroseptal in 32 patients (88%), right mid-septal in 2 (6%), right posteroiateral in 1 (3%), and left anterolateral in 1 (3%). Thirty-five accessory pathways were successfully ablated with a mean of 5 ± 3 applications. A mid-septal accessory pathway could not be ablated. After a mean follow-up of 21 ± 16 months (range 1–64) 34 patients are asymptomatic. There were recurrences in 8 patients after the initial successful ablation (mean of 1.2 months), 5 were ablated in a second ablation procedure, 2 patients required a third procedure, and 1 patient required four ablation sessions. All patients with LV dysfunction experienced a remarkable improvement after ablation. Mean preablation LV ejection fraction in patients with tachycardiomyopathy was 28%± 6% and rose to 51%± 16% after ablation (P < 0.02). Our study supports the concept that radiofrequency catheter ablation is a safe and effective treatment for patients with PJRT. Radiofrequency ablation should be the treatment of choice in these patients because this arrhythmia is usually drug refractory. The majority of accessory pathways are located in the posteroseptal zone. Cessation of the arrhythmia after successful ablation results in recovery of LV dysfunction.     

Value of induction of pleomorphic ventricular tachycardia during programmed stimulation

The morphology of the first documented, the recurrent and theinduced ventricular tachycardia were studied in 41 patientswith an old myocardial infarction and documented sustained ventriculartachycardia. During a mean follow-up of29 ± 11 monthsrecurrent ventricular tachycardia was present in 24 of 41 patientswith the same morphology as the first ventricular tachycardiain nine (37.5%) and a different morphology in 15 patients (62.5%).Ventricular tachycardia with the same morphology as the spontaneousventricular tachycardia were induced without significant differencesbetween patients with recurrent events and those without. However,multiple morphologies of ventricular tachycardia (pleomorphism)were induced more frequently in patients with subsequent recurrenceof ventricular tachycardia (off drugs: 9 of 13, 69%, on drugs:14 of 23, 61%) than in patients without (off drugs: 4 of 10,40%, on drugs: 2 of 11,18%) (P <0.05). Pleomorphism of ventricular tachycardia induced during programmedstimulation identifies patients at a higher risk of subsequentrecurrent events. Recurrent ventricular tachycardia has a differentmorphology than the first one in two thirds of patients.     

Dual Atrio-ventricular Nodal Pathways and Atrial Fibrillation

The determinants of the ventricular rate during atrial fibrillation were studied in a group of eleven patients demonstrating dual A-V nodal pathways during atrial stimulation. The shortest R-R interval and the mean ventricular cycle length during at least 1 min of pacing-induced atrial fibrillation were compared: a) to the effective and functional refractory period of the fast pathway; b) to the effective refractory period of the slow pathway determined during atrial stimulation, at two or more different basic cycle lengths of pacing; and c) to the shortest cycle length during atrial stimulation followed by 1:1 A-V conduction. A group of 8 patients not demonstrating dual A-V nodal pathway-curves during atrial stimulation was used as a control. In both groups the shortest R-R interval during atrial fibrillation was best predicted by the shortest cycle length followed by 1:1 A-V conduction during atrial stimulation. The mean ventricular cycle length during atrial fibrillation was not accurately predicted by any of the variables studied. The similar results in patients with and without dual A-V nodal pathways suggest that concealed conduction from one to another A-V nodal pathway does not play a role in determining the ventricular response during atrial fibrillation in patients with dual A-V nodal pathways.     

Long-term follow-up of incessant supraventricular tachycardia treated with oral encainide

The long-term follow up (32 to 44 months, mean 37 months) of9 patients with incessant supraventricular tachycardia treatedwith oral encainide is reported. During that follow up period,1 patient developed an ‘escape’ phenomenon to encainideand incessant supraventricular tachycardia recurred in spiteof increasing doses of encainide. Two patients required electricalfulguration of the bundle of His because of inability to controlincessant supraventricular tachycardia. One patient discontinuedtreatment without suffering from recurrences of the arrhythmia.In 6 of the original 11 patients treated with oral encainide,antiarrhythmic efficacy persisted after a mean of 3 years. Noadditional long-term side effects developed. It is concludedthat the antiarrhythmic efficacy of oral encainide in incessantsupraventricular tachycardia persists long-term, although somepatients may develop an ‘escape’ phenomenon to encainidewhile others develop spontaneous cure of tachycardia.     

Radiofrequency Catheter Ablation of Atriofascicular Accessory Pathways Guided by Discrete Electrical Potentials Recorded at the Tricuspid Annulus

Background: The purpose of this study was to test the feasibility of using the recording of discrete electrical potentials to guide radiofrequency catheter ablation of atriofascicular accessory pathways with Mahaim-like properties. Methods and Results: Four patients (3 females, 1 male) who fulfilled criteria for having atriofascicular accessory pathways with Mahaim-like properties and preexcited reciprocating tachycardia underwent radiofrequency catheter ablation. The mean age was 35 years (range 27–47). Symptoms were present for a mean of 10.5 years (range 6–18). Recording of discrete electrical potentials of the atriofascicular pathway was attempted by mapping the tricuspid annulus in sinus rhythm, during atrial pacing, and during reciprocating tachycardia. During atrial pacing, a mean of seven radiofrequency pulses (range 1–14), delivered to the tricuspid annulua at the area where electrical potentials were recorded, eliminated conduction through the atriofascicular accessory pathway in all patients. No complications occurred. Tachycardia did not reoccur during a mean follow-up of 5 months (range 3–9). Conclusions: Recording of discrete electrical potentials at the tricuspid annulus identifies an optimal ablation site where radiofrequency current can safely eliminate conduction through atriofascicular accessory pathways with Mahaim-like properties.     

Acute exanthem and pancreatic panniculitis in a patient with primary HIV infection and haemophagocytic syndrome

Summary We report a patient with an acute infection with the human immunodeficiency virus (HIV), who initially presented due to a mononucleosis-like illness that included a rash on the upper trunk and limbs, and oral ulceration. The patient developed a Hemophagocytic syndrome with severe systemic involvement. Three weeks after the initial presentation, lesions of a pancreatic panniculitis appeared on both legs.