Molecular autopsy for sudden cardiac death - outcome of a practical approach

Abstract

Methods: Forty patients with proven Fabry disease (mean age 31.7 AE 12.8 years; n = 25 men) were treated prospectively with ERT for 67.2 AE 36.9 months. Before ERT 11 males and 9 females showed LVH, 5 males and 3 females had chronic kidney disease (CKD) and 18 males and 13 females had proteinuria. Results: During follow-up 8 events occurred in 5 patients (2 deaths, 4 ESRD and 1 atrial fibrillation). Sudden death and stroke didń t occurr. Overall population only 3 males and 1 females increased LVMI, the rest reduced or stabilised it. During follow-up, average eGFR were stable in both genders. Conclusions: We found a favourable long term outcome of this cohort under ERT. Our cohort was younger than others and less affected at baseline, so ERT could prevent the progression of the disease towards a fatal organ failure and death.

The role of genetic testing in unexplained sudden death

“…In a UK study, a molecular diagnosis was made in 14% of 45 cases, and a higher uptake of cascade screening in relatives where a molecular diagnosis had been made at autopsy was also reported. 123 The yield of testing LQT and CPVT genes was reexamined by Tester et al 124 more recently in an extended series of 173 autopsy-negative SUDS cases that include their original 49 strong cohort. Forty-five likely pathogenic mutations were identified, but the overall yield (25%) was lower than their initial cohort.…”