d o
t o r e g . c o m
Dr. Mete ALPASLAN
ATS - Andersen-Tawil Syndrome
Is a very rare disease.
Etiology
Type 1 ATS: The more frequent type. Autosomal dominant. Involves KCNJ2 gene mutations.
Type 2 ATS: There are no mutations involving the KCNJ2 gene.
Diagnostic criteria
At least 2 of the below 3 criteria are needed to diagnose the Andersen-Tawil Syndrome:
Arrhythmias.
Dysmorphic structure: scoliosis, cleft palate, short stature, low-set ears,
mandibular hypoplasia (micrognathia), hypertelorism, clinodactyly, syndcatyly.
Periodical paralysis: usually the patients are hypokalemic during the attack,
but may also be normokalemic
or hyperkalemic.
The ECG in Andersen-Tawil Syndrome
Abnormally prominent U waves may be observed in chest leads.
QT interval prolongation have been reported.
This observation may actually be due to measurement of the QU interval instead of the QT interval.
Arrhythmias: frequent ventricular premature contractions (VPCs),
polymorphic VPCs,
polymorphic ventricular tachycardia (VT), bidirectional VT may be observed.
Less frequently, Torsades de Pointes may also be observed.
Although not observed in every affected subject, Andersen-Tawil Syndrome is one of the few
diseases
that may result in bidirectional VT.
References
International Journal of Cardiology 2011;148:e13-e15.
Circ Arrhythmia Electrophysiol 2008;117:227-233.
ECG 1a. Above is the basal ECG of a 12 years old patient with Andersen-Tawil syndrome. Prominent U waves are observed in
leads V2 and V3.
The ECG above, has been donated by Dr. Woody Benson.
Click here for a more detailed ECG
ECG 1b. Above is the ECG of the same patient during bidirectional ventricular tachycardia (VT).
The ECG above, has been donated by Dr. Woody Benson.
Click here for a more detailed ECG
ECG 1c. Above is the ECG of the same patient depicting polymorphic ventricular premature contractions (VPCs).
The ECG above, has been donated by Dr. Woody Benson.
Click here for a more detailed ECG
ECG 2. The ECG above, belongs to a 28 years old patient with Andersen-Tawil Syndrome and shows polymorphic ventricular
tachycardia (VT).
The ECG above, has been donated by Dr. Woody Benson.
Click here for a more detailed ECG
ECG 3. Above is the basal ECG of a 10 years-old patient with Andersen-Tawil Syndrome. Precordial leads show prominent
U waves.
The ECG above, has been donated by Dr. Woody Benson.
Click here for a more detailed ECG
Is a very rare disease.
Etiology
Type 1 ATS: The more frequent type. Autosomal dominant. Involves KCNJ2 gene mutations.
Type 2 ATS: There are no mutations involving the KCNJ2 gene.
Diagnostic criteria
At least 2 of the below 3 criteria are needed to diagnose the Andersen-Tawil Syndrome:
Arrhythmias.
Dysmorphic structure: scoliosis, cleft palate, short stature, low-set ears,
mandibular hypoplasia (micrognathia), hypertelorism, clinodactyly, syndcatyly.
Periodical paralysis: usually the patients are hypokalemic during the attack,
but may also be normokalemic
or hyperkalemic.
The ECG in Andersen-Tawil Syndrome
Abnormally prominent U waves may be observed in chest leads.
QT interval prolongation have been reported.
This observation may actually be due to measurement of the QU interval instead of the QT interval.
Arrhythmias: frequent ventricular premature contractions (VPCs),
polymorphic VPCs,
polymorphic ventricular tachycardia (VT), bidirectional VT may be observed.
Less frequently, Torsades de Pointes may also be observed.
Although not observed in every affected subject, Andersen-Tawil Syndrome is one of the few
diseases
that may result in bidirectional VT.
References
International Journal of Cardiology 2011;148:e13-e15.
Circ Arrhythmia Electrophysiol 2008;117:227-233.
ECG 1a. Above is the basal ECG of a 12 years old patient with Andersen-Tawil syndrome. Prominent U waves are observed in
leads V2 and V3.
The ECG above, has been donated by Dr. Woody Benson.
Click here for a more detailed ECG
ECG 1b. Above is the ECG of the same patient during bidirectional ventricular tachycardia (VT).
The ECG above, has been donated by Dr. Woody Benson.
Click here for a more detailed ECG
ECG 1c. Above is the ECG of the same patient depicting polymorphic ventricular premature contractions (VPCs).
The ECG above, has been donated by Dr. Woody Benson.
Click here for a more detailed ECG
ECG 2. The ECG above, belongs to a 28 years old patient with Andersen-Tawil Syndrome and shows polymorphic ventricular
tachycardia (VT).
The ECG above, has been donated by Dr. Woody Benson.
Click here for a more detailed ECG
ECG 3. Above is the basal ECG of a 10 years-old patient with Andersen-Tawil Syndrome. Precordial leads show prominent
U waves.
The ECG above, has been donated by Dr. Woody Benson.
Click here for a more detailed ECG