CLINICAL CHARACTERISTICS OF SUDDEN-DEATH VICTIMS IN HERITABLE (CHROMOSOME 1P1-1Q1) CONDUCTION AND MYOCARDIAL-DISEASE

Objectives. The purpose of this study was to identify the clinical cha racteristics of family members at risk of sudden death. Background. Th e significance of sudden death in heritable cardiac disorders with del ayed expression is incompletely understood. Additional insights come f rom a four-decade experience of seven generations of a family of Germa n origin with autosomal dominant (chromosome 1p1-1q1) cardiac conducti on and myocardial disease. Methods and Results. A total of 38 family m embers (20 males; 18 females) were identified with sudden death. Twent y-eight family members (mean age 48 +/- 8 years) from earlier generati ons had no pacemaker at the time of sudden death. In this group, 15 su bjects were asymptomatic prior to sudden death. Ten family members wit h sudden death, from later generations, had chronically implanted pace makers for high grade atrioventricular block This group was older (mea n age 57 +/- 2 years), with decreased functional status (New York Hear t Association class II to IV), enlarged left atria, dilated left ventr icles with reduced systolic function and documented ventricular fibril lation in three members. Twenty-eight family members with sudden death were descendants of sib lineages 2 or 6; 21 family members with sudde n death were offspring of a parent who also suffered sudden death. Con clusion. Sudden death is an important late outcome in heritable (chrom osome 1p1-1q1) cardiac conduction and myocardial disease. Pacemaker th erapy is important for the treatment of symptomatic bradycardia, but i t does not prevent sudden death. Family members who are beyond the thi rd decade of life with reduced functional capacity, left ventricular d ysfunction, pacemakers and who are the offspring of a parent with sudd en death appear to be at greatest risk. (J Am Coil Cardiol 1998;32:171 7-23) (C) 1998 by the American College of Cardiology.