Management of Asymptomatic Patients and Family Members

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Asymptomatic patients with ARVC/D do not require specific antiarrhythmic or other cardiac treatment. However, they should be followed by regular noninvasive cardiac investigations for early recognition of ventricular arrhythmias and potential progression of the disease with worsening of global or regional my-ocardial dysfunction. These follow-up visits should include a detailed interview concerning the interim occurrence of arrhythmic symptoms or events, ECG at rest, exercise tests, Holter monitoring, signal-averaged ECG and cardiac imaging by echocardiography and/or magnetic resonance imaging. Patients with ARVC/D should be advised against participation in competitive sports since this appears to be associated with accelerated disease progression and increased risk of ventricular arrhythmias and sudden death [16,17].

Family members of patients with ARVC/D should be under the care of a cardiologist with experience in the disease and be evaluated at regular intervals (35 years or with onset of symptoms). Modified diagnostic criteria for family members of affected index patients with ARVC/D were recently proposed but have not been prospectively validated [38]. Twelve-lead surface ECG and echocardiography are essential baseline diagnostic tests that should be complemented by exercise testing, Holter monitoring, and signal-averaged ECG. If these investigations show evidence suspicious of ARVC/D or if complex ventricular arrhythmias are documented or syncope occurs, more detailed investigations should be performed to establish the diagnosis, to stratify the risk, and to develop an individualized treatment strategy.

Asymptomatic relatives of genotyped index patients with ARVC/D may undergo genetic testing after detailed and careful counseling concerning the potential consequences of a positive test result [39]. The major advantage of a negative test is that the individual can be reassured and no follow-up investigations are necessary.

In affected but asymptomatic family members of ARVC/D patients, there is no general indication for prophylactic antiarrhythmic therapy, although prophylactic treatment with conventional ^-blockers has been recommended by several groups. Prophylactic treatment with sotalol, amiodarone, or other antiar-rhythmic drugs is probably not indicated in asymptomatic patients. However, in selected patients with multiple risk factors, familial sudden death, or inducible VT during programmed stimulation, the prophylactic implantation of an ICD for primary prevention of sudden death may be discussed (Fig. 18.5). Given the paucity of available data, this approach is controversial and requires individual decision based on the constellation of risk and patient's preference.

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