Maria Vittoria Matassini1, Andrew D Krahn2, Martin Gardner3, Jean Champagne4, Shubhayan Sanatani5, David H Birnie6, Michael H Gollob6, Vijay Chauhan7, Christopher S Simpson8, Robert M Hamilton9, Mario Talajic10, Kam Ahmad11, Brenda Gerull12, Santabhanu Chakrabarti2, Jeff S Healey13. 1. Population Health Research Institute, McMaster University, Hamilton, Canada; Polytechnic University of Marche, Ancona, Italy. 2. University of British Columbia, Vancouver, British Columbia, Canada. 3. Dalhousie University, Halifax, Nova Scotia, Canada. 4. Université Laval, Quebec City, Quebec, Canada. 5. British Columbia Children's Hospital, Vancouver, British Columbia, Canada. 6. University of Ottawa Heart Institute, Ottawa, Canada. 7. University Health Network, University of Toronto, Toronto, Ontario, Canada. 8. Queen's University, Kingston, Ontario, Canada. 9. Hospital for Sick Children, Toronto, Ontario, Canada. 10. Montreal Heart Institute, Montreal, Quebec, Canada. 11. St. Michael's Hospital, University of Toronto, Toronto, Ontario, Canada. 12. University of Calgary, Calgary, Alberta, Canada. 13. Population Health Research Institute, McMaster University, Hamilton, Canada. Electronic address: Jeff.Healey@phri.ca.
Abstract
BACKGROUND: A systematic evaluation of patients with unexplained cardiac arrest (UCA) yields a diagnosis in 50% of the cases. However, evolution of clinical phenotype, identification of new disease-causing mutations, and description of new syndromes may revise the diagnosis. OBJECTIVE: To assess the evolution in diagnosis among patients with initially UCA. METHODS: Diagnoses were reviewed for all patients with UCA recruited from the Cardiac Arrest Survivors with Preserved Ejection Fraction Registry with at least 1 year of follow-up. RESULTS: After comprehensive investigation of 68 patients (age 45.2 ± 14.9 years; 63% men), the initial diagnosis was as follows: idiopathic ventricular fibrillation (n = 34 [50%]), a primary arrhythmic disorder (n = 21 [31%]), and an occult structural cause (n = 13 [19%]). Patients were followed for 30 ± 17 months, during which time the diagnosis changed in 12 (18%) patients. A specific diagnosis emerged for 7 patients (21%) with an initial diagnosis of idiopathic ventricular fibrillation. A structural cardiomyopathy evolved in 2 patients with an initial diagnosis of primary electrical disorder, while the specific structural cardiomyopathy was revised for 1 patient. Two patients with an initial diagnosis of a primary arrhythmic disorder were subsequently considered to have a different primary arrhythmic disorder. A follow-up resting electrocardiogram was the test that most frequently changed the diagnosis (67% of the cases), followed by genetic testing (17%). CONCLUSIONS: The reevaluation of patients presenting with UCA may lead to a change in diagnosis in up to 20%. This emphasizes the need to actively monitor the phenotype and also has implications for the treatment of these patients and the screening of their relatives.
BACKGROUND: A systematic evaluation of patients with unexplained cardiac arrest (UCA) yields a diagnosis in 50% of the cases. However, evolution of clinical phenotype, identification of new disease-causing mutations, and description of new syndromes may revise the diagnosis. OBJECTIVE: To assess the evolution in diagnosis among patients with initially UCA. METHODS: Diagnoses were reviewed for all patients with UCA recruited from the Cardiac Arrest Survivors with Preserved Ejection Fraction Registry with at least 1 year of follow-up. RESULTS: After comprehensive investigation of 68 patients (age 45.2 ± 14.9 years; 63% men), the initial diagnosis was as follows: idiopathic ventricular fibrillation (n = 34 [50%]), a primary arrhythmic disorder (n = 21 [31%]), and an occult structural cause (n = 13 [19%]). Patients were followed for 30 ± 17 months, during which time the diagnosis changed in 12 (18%) patients. A specific diagnosis emerged for 7 patients (21%) with an initial diagnosis of idiopathic ventricular fibrillation. A structural cardiomyopathy evolved in 2 patients with an initial diagnosis of primary electrical disorder, while the specific structural cardiomyopathy was revised for 1 patient. Two patients with an initial diagnosis of a primary arrhythmic disorder were subsequently considered to have a different primary arrhythmic disorder. A follow-up resting electrocardiogram was the test that most frequently changed the diagnosis (67% of the cases), followed by genetic testing (17%). CONCLUSIONS: The reevaluation of patients presenting with UCA may lead to a change in diagnosis in up to 20%. This emphasizes the need to actively monitor the phenotype and also has implications for the treatment of these patients and the screening of their relatives.
Authors: Thomas M Roston; Laura Dewar; Sonia Franciosi; Julie Hathaway; Kirsten Bartels; Taylor Cunningham; Karen A Gibbs; Sam Sheps; Zachary W M Laksman; Shubhayan Sanatani; Andrew D Krahn Journal: J Community Genet Date: 2017-11-23
Authors: Arthur A M Wilde; Christopher Semsarian; Manlio F Márquez; Alireza Sepehri Shamloo; Michael J Ackerman; Euan A Ashley; Back Sternick Eduardo; Héctor Barajas-Martinez; Elijah R Behr; Connie R Bezzina; Jeroen Breckpot; Philippe Charron; Priya Chockalingam; Lia Crotti; Michael H Gollob; Steven Lubitz; Naomasa Makita; Seiko Ohno; Martín Ortiz-Genga; Luciana Sacilotto; Eric Schulze-Bahr; Wataru Shimizu; Nona Sotoodehnia; Rafik Tadros; James S Ware; David S Winlaw; Elizabeth S Kaufman; Takeshi Aiba; Andreas Bollmann; Jong-Il Choi; Aarti Dalal; Francisco Darrieux; John Giudicessi; Mariana Guerchicoff; Kui Hong; Andrew D Krahn; Ciorsti Mac Intyre; Judith A Mackall; Lluís Mont; Carlo Napolitano; Pablo Ochoa Juan; Petr Peichl; Alexandre C Pereira; Peter J Schwartz; Jon Skinner; Christoph Stellbrink; Jacob Tfelt-Hansen; Thomas Deneke Journal: J Arrhythm Date: 2022-05-31
Authors: Arthur A M Wilde; Christopher Semsarian; Manlio F Márquez; Alireza Sepehri Shamloo; Michael J Ackerman; Euan A Ashley; Eduardo Back Sternick; Héctor Barajas-Martinez; Elijah R Behr; Connie R Bezzina; Jeroen Breckpot; Philippe Charron; Priya Chockalingam; Lia Crotti; Michael H Gollob; Steven Lubitz; Naomasa Makita; Seiko Ohno; Martín Ortiz-Genga; Luciana Sacilotto; Eric Schulze-Bahr; Wataru Shimizu; Nona Sotoodehnia; Rafik Tadros; James S Ware; David S Winlaw; Elizabeth S Kaufman; Takeshi Aiba; Andreas Bollmann; Jong Il Choi; Aarti Dalal; Francisco Darrieux; John Giudicessi; Mariana Guerchicoff; Kui Hong; Andrew D Krahn; Ciorsti MacIntyre; Judith A Mackall; Lluís Mont; Carlo Napolitano; Juan Pablo Ochoa; Petr Peichl; Alexandre C Pereira; Peter J Schwartz; Jon Skinner; Christoph Stellbrink; Jacob Tfelt-Hansen; Thomas Deneke Journal: Europace Date: 2022-09-01 Impact factor: 5.486
Authors: Giulio Conte; Bernard Belhassen; Pier Lambiase; Giuseppe Ciconte; Carlo de Asmundis; Elena Arbelo; Beat Schaer; Antonio Frontera; Haran Burri; Leonardo Calo'; Kostantinos P Letsas; Francisco Leyva; Bradley Porter; Johan Saenen; Valerio Zacà; Paola Berne; Peter Ammann; Marco Zardini; Blerim Luani; Roberto Rordorf; Georgia Sarquella Brugada; Argelia Medeiros-Domingo; Johann-Christoph Geller; Tom de Potter; Mathis K Stokke; Manlio F Márquez; Yoav Michowitz; Shohreh Honarbakhsh; Manuel Conti; Christian Sticherling; Annamaria Martino; Abbasin Zegard; Tardu Özkartal; Maria Luce Caputo; François Regoli; Rüdiger C Braun-Dullaeus; Francesca Notarangelo; Tiziano Moccetti; Gavino Casu; Christopher A Rinaldi; Moises Levinstein; Kristina H Haugaa; Nicolas Derval; Catherine Klersy; Moreno Curti; Carlo Pappone; Hein Heidbuchel; Josép Brugada; Michel Haïssaguerre; Pedro Brugada; Angelo Auricchio Journal: Europace Date: 2019-11-01 Impact factor: 5.214