Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan
| Autor: | Hisashi Takasugi, Masao Yoshinaga, Kenji Waki, Tamotsu Matsunaga, Tadahiro Yoshikawa, Yasuhiko Tanaka, Masaki Arima, Wataru Shimizu, Koh Ichihashi, Naokata Sumitomo, Masanobu Ikoma, Hitoshi Horigome, Hiroko Goto, Mari Iwamoto, Nobuo Tauchi, Junko Shiono, Masami Nagashima, Minoru Horie, Satoshi Hasegawa, Noboru Inamura, Hiroya Ushinohama, Hideto Takahashi |
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| Rok vydání: | 2009 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Pacemaker Artificial Genotype Long QT syndrome Sinus bradycardia Prenatal diagnosis Torsades de pointes Ventricular tachycardia Sudden cardiac death Electrocardiography Japan Physiology (medical) Prenatal Diagnosis medicine Humans cardiovascular diseases Family history medicine.diagnostic_test business.industry Data Collection Infant Newborn Infant medicine.disease Heart Arrest Fetal Diseases Long QT Syndrome Death Sudden Cardiac Phenotype Mutation Female medicine.symptom Cardiology and Cardiovascular Medicine business Anti-Arrhythmia Agents |
| Zdroj: | Circulation. Arrhythmia and electrophysiology. 3(1) |
| ISSN: | 1941-3084 |
| Popis: | Background— Data on the clinical presentation and genotype-phenotype correlation of patients with congenital long-QT syndrome (LQTS) diagnosed at perinatal through infantile period are limited. A nationwide survey was conducted to characterize how LQTS detected during those periods is different from that in childhood or adolescence. Methods and Results— Using questionnaires, 58 cases were registered from 33 institutions. Diagnosis (or suspicion) of LQTS was made during fetal life (n=18), the neonatal period (n=31, 18 of them at 0 to 2 days of life), and beyond the neonatal period (n=9). Clinical presentation of LQTS included sinus bradycardia (n=37), ventricular tachycardia/torsades de pointes (n=27), atrioventricular block (n=23), family history of LQTS (n=21), sudden cardiac death/aborted cardiac arrest (n=14), convulsion (n=5), syncope (n=5), and others. Genetic testing was available in 41 (71%) cases, and the genotype was confirmed in 29 (71%) cases, consisting of LQT1 (n=11), LQT2 (n=11), LQT3 (n=6), and LQT8 (n=1). Ventricular tachycardia/torsades de pointes and atrioventricular block were almost exclusively observed in patients with LQT2, LQT3, and LQT8, as well as in those with no known mutation. In LQT1 patients, clues to diagnosis were mostly sinus bradycardia or family history of LQTS. Sudden cardiac death/aborted cardiac arrest (n=14) was noted in 4 cases with no known mutations as well as in 4 genotyped cases, although the remaining 6 did not undergo genotyping. Their subsequent clinical course after aborted cardiac arrest was favorable with administration of β-blockers and mexiletine and with pacemaker implantation/implantable cardioverter-defibrillator. Conclusions— Patients with LQTS who showed life-threatening arrhythmias at perinatal periods were mostly those with LQT2, LQT3, or no known mutations. Independent of the genotype, aggressive intervention resulted in effective suppression of arrhythmias, with only 7 deaths recorded. |
| Databáze: | OpenAIRE |
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