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Table 1 Clinical characteristics of living affected family members

From: Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report

Subject III:1 IV:1
Mutation SCN5A p.R222Q p.R222Q, p.H558R
Age at onset/now (years) 25/57 7/31
Sex Male Male
Symptoms Palpitations, presyncope Palpitations/SCD -successfully resuscitated
NYHA functional class III IV- > 23 year old - HTx
LVdD (mm)/LVEF (%) 68/20 84/10-15
Arrhythmia MPVCs/nsVT/IVR MPVCs/nsVT/VT/VF/AF
Conduction disorders AVB Io, RBBB No
ICD Yes Yes /explantation after HTx
Amiodarone Yes - > hyperthyroidism Yes - > unsuccessful
Quinidine treatment
 Quinidine Yes No
 Symptoms before/after Yes/no
 NYHA functional class III- > II
 LVdD (mm) before/after 68/62
 LVEF (%) before/after 20/35
 Arrhythmia during 24 h before/after 65,000 MPVCs/ ~ 4000 MPVCs
  1. SCD sudden cardiac death, HTx heart transplantation, AVB Io first degree of atrio–ventricular block, RBBB right bundle branch block, IVR idioventricular rhythm, MPVCs multifocal premature ventricular contractions, LVdD left ventricle enddiastolic diameter, LVEF left ventricle ejection fraction, VT ventricular tachycardia, ns non-sustained, VF ventricular fibrillation, AF atrial fibrillation, ICD implantable cardioverter–defibrillator