Pauline Quenin1, Florence Kyndt1, Philippe Mabo1, Jacques Mansourati1, Dominique Babuty1, Aurélie Thollet1, Béatrice Guyomarch1, Richard Redon1, Julien Barc1, Jean-Jacques Schott1, Frederic Sacher1, Vincent Probst1, Jean Baptiste Gourraud2. 1. From the l'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes (P.Q., F.K., A.T., B.G., R.R., J.B., J.-J.S., V.P., J.B.G.); Service de cardiologie, CHU de Rennes, (P.M.); Service de cardiologie, CHU de Brest (J.M.); Service de cardiologie, CHU de Tours (D.B.); and Service de cardiologie, Institut Lyric, CHU de Bordeaux, France (F.S.). 2. From the l'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes (P.Q., F.K., A.T., B.G., R.R., J.B., J.-J.S., V.P., J.B.G.); Service de cardiologie, CHU de Rennes, (P.M.); Service de cardiologie, CHU de Brest (J.M.); Service de cardiologie, CHU de Tours (D.B.); and Service de cardiologie, Institut Lyric, CHU de Bordeaux, France (F.S.). jeanbaptiste.gourraud@chu-nantes.fr.
Abstract
BACKGROUND: After sudden cardiac death with negative autopsy, clinical screening of relatives identifies a high proportion of inherited arrhythmia syndrome. However, the efficacy of this screening in families not selected by autopsy has never been assessed. We aim to investigate the value of clinical screening in relatives of all subjects who died suddenly before 45 years of age. METHODS AND RESULTS: One hundred and three consecutive families who experienced unexplained sudden cardiac death before 45 years of age were included from May 2009 to December 2014 in a prospective multicenter registry. Clinical screening was provided to all relatives and performed in 64 families (230 relatives, 80 unexplained sudden cardiac death). Diagnosis was established in 16 families (25%), including Brugada syndrome (7), long QT syndromes (5), dilated cardiomyopathy (2), and hypertrophic cardiomyopathy (2). The diagnostic yield was mainly dependent on the number of screened relatives (3.8±3.4 screened relatives in diagnosed families versus 2.0±1.5; P<0.005) rising to 47% with at least 3 relatives. It additionally increased from 3 of 32 (9%) to 9 of 22 (41%) when both parents were screened (P=0.01). Diagnostic performance was also dependent on the exhaustiveness of screening (70% of complete screening in the diagnosed families versus 25%; P<0.0001) with 17 Brugada syndromes and 15 long QT syndromes diagnosed based on pharmacological tests. CONCLUSIONS: Even without autopsy, familial screening after sudden death in young patients is effective. Broad screening of relatives and systematic tests, including pharmacological challenges, greatly increases the likelihood of diagnosis in families.
BACKGROUND: After sudden cardiac death with negative autopsy, clinical screening of relatives identifies a high proportion of inherited arrhythmia syndrome. However, the efficacy of this screening in families not selected by autopsy has never been assessed. We aim to investigate the value of clinical screening in relatives of all subjects who died suddenly before 45 years of age. METHODS AND RESULTS: One hundred and three consecutive families who experienced unexplained sudden cardiac death before 45 years of age were included from May 2009 to December 2014 in a prospective multicenter registry. Clinical screening was provided to all relatives and performed in 64 families (230 relatives, 80 unexplained sudden cardiac death). Diagnosis was established in 16 families (25%), including Brugada syndrome (7), long QT syndromes (5), dilated cardiomyopathy (2), and hypertrophic cardiomyopathy (2). The diagnostic yield was mainly dependent on the number of screened relatives (3.8±3.4 screened relatives in diagnosed families versus 2.0±1.5; P<0.005) rising to 47% with at least 3 relatives. It additionally increased from 3 of 32 (9%) to 9 of 22 (41%) when both parents were screened (P=0.01). Diagnostic performance was also dependent on the exhaustiveness of screening (70% of complete screening in the diagnosed families versus 25%; P<0.0001) with 17 Brugada syndromes and 15 long QT syndromes diagnosed based on pharmacological tests. CONCLUSIONS: Even without autopsy, familial screening after sudden death in young patients is effective. Broad screening of relatives and systematic tests, including pharmacological challenges, greatly increases the likelihood of diagnosis in families.
Authors: Gregory Webster; Rachael Olson; Zachary J Schoppen; Nicholas Giancola; Lauren C Balmert; Sara Cherny; Alfred L George Journal: J Am Coll Cardiol Date: 2019-08-13 Impact factor: 24.094
Authors: Martin K Stiles; Arthur A M Wilde; Dominic J Abrams; Michael J Ackerman; Christine M Albert; Elijah R Behr; Sumeet S Chugh; Martina C Cornel; Karen Gardner; Jodie Ingles; Cynthia A James; Jyh-Ming Jimmy Juang; Stefan Kääb; Elizabeth S Kaufman; Andrew D Krahn; Steven A Lubitz; Heather MacLeod; Carlos A Morillo; Koonlawee Nademanee; Vincent Probst; Elizabeth V Saarel; Luciana Sacilotto; Christopher Semsarian; Mary N Sheppard; Wataru Shimizu; Jonathan R Skinner; Jacob Tfelt-Hansen; Dao Wu Wang Journal: Heart Rhythm Date: 2020-10-19 Impact factor: 6.343
Authors: Martin K Stiles; Arthur A M Wilde; Dominic J Abrams; Michael J Ackerman; Christine M Albert; Elijah R Behr; Sumeet S Chugh; Martina C Cornel; Karen Gardner; Jodie Ingles; Cynthia A James; Jyh-Ming Jimmy Juang; Stefan Kääb; Elizabeth S Kaufman; Andrew D Krahn; Steven A Lubitz; Heather MacLeod; Carlos A Morillo; Koonlawee Nademanee; Vincent Probst; Elizabeth V Saarel; Luciana Sacilotto; Christopher Semsarian; Mary N Sheppard; Wataru Shimizu; Jonathan R Skinner; Jacob Tfelt-Hansen; Dao Wu Wang Journal: J Arrhythm Date: 2021-04-08
Authors: Elizabeth Davida Paratz; Luke Rowsell; Dominica Zentner; Sarah Parsons; Natalie Morgan; Tina Thompson; Paul James; Andreas Pflaumer; Christopher Semsarian; Karen Smith; Dion Stub; Andre La Gerche Journal: Open Heart Date: 2020-01-20
Authors: Irena Andršová; Katerina Hnatkova; Martina Šišáková; Ondřej Toman; Peter Smetana; Katharina M Huster; Petra Barthel; Tomáš Novotný; Georg Schmidt; Marek Malik Journal: Sci Rep Date: 2021-07-12 Impact factor: 4.996