Search

Veltmann C, Schimpf R, Steitner F, Hu D, Pfeiffer R, Borggrefe M, Wolpert C, Antzelevitch C. Electrocardiographic identification of SCN5A mutation carriers in a large European family. Europace Journal 2009, 11(Supplement 2), Abstract 34.Wijnmaalen AP, Van Der Geest RJ, Siebelink HJ, Kroft L, Bax JJ, Reiber JH, Schalij MJ, Zeppenfeld K. Integration of MRI derived 3D scar maps with electroanatomical mapping during catheter ablation of scar-related ventricular tachycardia late after myocardial infarction. Europace Journal 2009, 11(Supplement 2), Abstract 35.Algalarrondo VA, Dinanian SD, Juin CJ, Adams DA, Slama MS. Paroxystic AV block and prophylactic pacing in familial amyloid polyneuropathy. Europace Journal 2009, 11(Supplement 2), Abstract 36.# Electrocardiographic identification of SCN5A mutation carriers in a large European family {#article-title-2} Veltmann C, Schimpf R, Steitner F, Hu D, Pfeiffer R, Borggrefe M, Wolpert C, Antzelevitch C. Electrocardiographic identification of SCN5A mutation carriers in a large European family. Europace Journal 2009, 11(Supplement 2), Abstract 34.Wijnmaalen AP, Van Der Geest RJ, Siebelink HJ, Kroft L, Bax JJ, Reiber JH, Schalij MJ, Zeppenfeld K. Integration of MRI derived 3D scar maps with electroanatomical mapping during catheter ablation of scar-related ventricular tachycardia late after myocardial infarction. Europace Journal 2009, 11(Supplement 2), Abstract 35.Algalarrondo VA, Dinanian SD, Juin CJ, Adams DA, Slama MS. Paroxystic AV block and prophylactic pacing in familial amyloid polyneuropathy. Europace Journal 2009, 11(Supplement 2), Abstract 36.The loss-of-function SCN5A missense mutation E1784K leads to the Brugada and/or Long QT phenotype and to cardiac conduction disease. The aim of the present study was to perform a genotype-phenotype correlation in a large family with the E1784K mutation and to identify electrocardiographic markers capable of differentiating between mutation carriers and non-carriers. Methods: We screened a large 33-member European family. The work-up included the medical and family history (n=33), a baseline ECG (n=27), sodium blocker challenge (n=23) and genetic screening (n=27). Results: 27 members (28±15 years of age; 16 males, 11 females) were genotyped. In 17 of 27 patients (8 males, 9 females) a E1784K missense mutation was identified in SCN5A. Mutation carriers revealed significantly longer PR and QT intervals and QRS duration compared to non-carriers. (PQ: 195ms vs. 155ms, P 70ms or between 60ms and 70ms with ECG abnormalities) or in case of unexplained syncope. By using pacing systems wich preserve physiological AV conduction, our purpose was to estimate prevalence of AV block and pacing dependance for high risk FAP patients. Methods: In a cohort of 29 FAP patients with conduction disorders leading to prophylactic pacing, we studied AV conduction using the "AAI Safe R" system (ELA medical). Datas were collected by using the Holter memories of pacemakers. Results: Patients were 50±15 years old and were followed during 13.7±11.9 months after pace maker insertion (12080 days cumulated). Before pace maker insertion, ECG was normal in 23% of cases. Electrophysiologic study showed 118±12ms for AH interval and 62±6ms for HV interval. Average percentage of ventricular pacing was 15±25%and 31±34% for atrial pacing. If 58% of patients (17/29) had less than 5% needs of ventricular pacing, we noted AV blocks episods for all patients but three (90%). Frequency of AV conduction disorders was 356±514 events per month (epm) and was distributed in 17±56 epm for type III AV block, 288±483 epm for type II AV block, 39±61epm for type I AV block and 1±4 for pauses. Percentage of ventricular pacing was positively correlated to frequency of AV block (R = 0.9, P70ms, HV interval between 60ms and 70ms with ECG abnormalities or in case of unexplained syncope), prophylactic pacemaker insertion should be performed. Pacemaker features designed to promote spontaneous atrioventricular conduction allow a good AV conduction monitoring in FAP patients. Pre operative impairment of the nodal conduction is correlated to the rate of ventricular pacing with this stimulation mode.