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The most striking sign of Timothy syndrome type 1 is the co-occurrence of both syndactyly (about 0.03% of births) and long QT syndrome (1% per year) in a single patient. . Other common symptoms include cardiac arrhythmia (94%), heart malformations (59%), and autism or an autism spectrum disorder (80% who survive long enough for evaluati
The condition presents early in life and the average life expectancy is 2.5 years with death most commonly caused by ventricular arrhythmias. Many children with Timothy syndrome who survive longer than this have features of autism spectrum disorder. Timothy syndrome is caused by variants in the calcium channel Cav1.2 encoded by the gene CACNA1c.
Regressive autism occurs when a child appears to develop typically but then starts to lose speech and social skills and is subsequently diagnosed with ASD. [15] Other terms used to describe regression in children with autism are autism with regression , autistic regression , setback-type autism , and acquired autistic syndrome .
Romano–Ward syndrome increases the risk of abnormal heart rhythms or arrhythmias. These are typically a form of ventricular tachycardia known as Torsades de pointes which can cause faints, seizures, or even sudden death. [1] Less dangerous arrhythmias such as atrial fibrillation also occur, causing symptoms of heart racing or palpitations ...
Flecainide is a medication used to prevent and treat abnormally fast heart rates. [1] This includes ventricular and supraventricular tachycardias. [1] Its use is only recommended in those with dangerous arrhythmias or when significant symptoms cannot be managed with other treatments. [1]
About 80% of sudden cardiac death is the result of ventricular arrhythmias. [12] Arrhythmias may occur at any age but are more common among older people. [4] Arrhythmias may also occur in children; however, the normal range for the heart rate varies with age. [3]
(The re-entrant rhythm is less likely to interact with tissue that has become refractory). The class III agents exhibit reverse-use dependence (their potency increases with slower heart rates, and therefore improves maintenance of sinus rhythm). Inhibiting potassium channels results in slowed atrial-ventricular myocyte repolarization.
JET is most commonly seen in children following cardiac surgery. The arrhythmia affects 2-22% of children depending on the type of surgery performed, with higher rates seen following repair of Tetralogy of Fallot, and lower rates following the repair of ventricular septal defects and arterial switch operations. [6]