Investigations

1st investigations to order

ECG for LQT1

Test
Result
Test

Resting ECG for LQT1.[Figure caption and citation for the preceding image starts]: ECG findings in type 1 long QT syndromeFrom the collection of Dr James P. Daubert [Citation ends].com.bmj.content.model.Caption@3c3433d5

Should be undertaken in all suspected cases.[16]

QT interval and corrected QT interval (QTc) should be assessed.

T-wave morphology (monophasic or multiphasic) should be assessed.

QT interval is measured using either tangent or threshold methods.

QTc calculated using Bazett's formula: QT divided by the square root of the RR interval, where the RR interval is the interval between each QRS complex (ideally that immediately preceding the QT interval and averaged for 3 to 5 complexes).

All measurements in seconds.

Result

prolonged QT intervals associated with a broad-based T wave

ECG for LQT2

Test
Result
Test

Resting ECG for LQT2.[Figure caption and citation for the preceding image starts]: ECG findings in type 2 long QT syndromeFrom the collection of Dr James P. Daubert [Citation ends].com.bmj.content.model.Caption@6aae435e

Should be undertaken in all suspected cases.[16]

QT interval and QTc should be assessed.

T-wave morphology (monophasic or multiphasic) should be assessed.

QT interval is measured using either tangent or threshold methods.

QTc calculated using Bazett's formula: QT divided by the square root of the RR interval, where the RR interval is the interval between each QRS complex (ideally that immediately preceding the QT interval and averaged for 3 to 5 complexes).

All measurements in seconds.

Result

low-amplitude and notched T waves

ECG for LQT3

Test
Result
Test

Resting ECG for LQT3.[Figure caption and citation for the preceding image starts]: ECG findings in type 3 long QT syndromeFrom the collection of Dr James P. Daubert [Citation ends].com.bmj.content.model.Caption@43d7b55a

Should be undertaken in all suspected cases.[16]

QT interval and QTc should be assessed.

T-wave morphology (monophasic or multiphasic) should be assessed.

QT interval is measured using either tangent or threshold methods.

QTc calculated using Bazett's formula: QT divided by the square root of the RR interval, where the RR interval is the interval between each QRS complex (ideally that immediately preceding the QT interval and averaged for 3 to 5 complexes).

All measurements in seconds.

Result

long ST segments with a late-appearing T wave resulting in a long QT interval

ECG for hypokalaemia and hypomagnesaemia

Test
Result
Test

Hypokalaemia is a known cause of acquired LQTS.

Should be undertaken in all suspected cases.

QT interval and QTc should be assessed.

T-wave morphology (monophasic or multiphasic) should be assessed.

QT interval is measured using either tangent or threshold methods.

QTc calculated using Bazett's formula: QT divided by the square root of the RR interval, where the RR interval is the interval between each QRS complex (ideally that immediately preceding the QT interval and averaged for 3 to 5 complexes).

All measurements in seconds.

Result

ST depression, flattened T waves, prominent U waves, and prolonged QT interval in hypokalaemia; ECG changes of co-existing hypokalaemia in hypomagnesaemia

ECG for hypocalcaemia

Test
Result
Test

Hypocalcaemia is a known cause of acquired LQTS.

Should be undertaken in all suspected cases.

QT interval and QTc should be assessed.

T-wave morphology (monophasic or multiphasic) should be assessed.

QT interval is measured using either tangent or threshold methods.

QTc calculated using Bazett's formula: QT divided by the square root of the RR interval, where the RR interval is the interval between each QRS complex (ideally that immediately preceding the QT interval and averaged for 3 to 5 complexes).

All measurements in seconds.

Result

isolated prolongation of the QT interval

ECG for complete atrioventricular (AV) block

Test
Result
Test

AV nodal block may result in QT prolongation or pause-dependent QT prolongation.

Result

sinus rhythm with normal atrial rate (represented by P-wave rate), no relationship between P waves and QRS complexes, widening of QRS complex, ventricular rate (represented by QRS complex rate) <50 bpm

serum potassium

Test
Result
Test

Hypokalaemia may precipitate symptoms in patients with unrecognised congenital LQTS or be the primary cause of acquired LQTS.

Result

hypokalaemia

serum magnesium

Test
Result
Test

Hypomagnesaemia may precipitate symptoms in patients with unrecognised congenital LQTS or be the primary cause of acquired LQTS.

Result

hypomagnesaemia

serum calcium

Test
Result
Test

Hypocalcaemia may precipitate symptoms in patients with unrecognised congenital LQTS or be the primary cause of acquired LQTS.

Result

hypocalcaemia

Investigations to consider

Holter monitor

Test
Result
Test

To evaluate the behaviour of the QT interval during bradycardia (at night), tachycardia, or sudden pauses (e.g., post-extrasystolic).

To identify non-sustained ventricular arrhythmias in asymptomatic patients with LQTS.

A Holter monitor-derived 'QT clock' may be used to improve detection of QT prolongation.[39]

Result

intermittent QT and corrected QT interval prolongation associated with ventricular arrhythmias

exercise tolerance test

Test
Result
Test

Especially useful in the diagnosis of LQT1.

QT and corrected QT interval increase more in LQT1 than in LQT2 and LQT3.

Useful for diagnosis when the QT interval is borderline prolonged.

Assists in the prescription of a maximum exercise level for patients presenting with exercise-induced symptoms of presyncope or syncope.

Result

QT and corrected QT interval prolongation

echocardiography

Test
Result
Test

To assess for and rule out regional wall motion abnormalities suggestive of myocardial scarring or infarction.

Helpful in ruling out and characterising valvular stenotic or regurgitant lesions.

Result

assessment of regional wall motion and valve function

genetic testing

Test
Result
Test

Pinpoints the channelopathy responsible for the LQTS, thus identifying the subtype.[41]

Aids risk stratification of patients.

Allows mapping of the mutation's inheritance so family members can be screened.

Relatively low sensitivity of approximately 70%, requires expert interpretation, and is very costly.[5][42]​​​ In the absence of a family history of LQTS, it is not indicated for asymptomatic individuals with borderline QTc intervals (<480 ms). However, genetic testing is indicated when there is a very strong clinical diagnosis or when the QTc exceeds 500 ms on serial ECGs and a reversible cause is absent.[5][42]​​

Patients with multiple LQTS gene mutations are at higher risk for breakthrough cardiac events during follow-up.[43]

Result

mutations in the KCNQ1 gene in LQT1, mutations in the KCNH2 gene in LQT2, mutations in the SCN5A gene in LQT3

adrenaline (epinephrine) test

Test
Result
Test

Must be performed with immediate access to advanced life support and external defibrillation.

Especially useful in the diagnosis of LQT1.

Result

QT and corrected QT interval prolongation

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