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Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study)

Unexplained cardiac arrest (UCA) can be caused by low-penetrance genetic disorders. The aim of this cross-sectional study is to assess the usefulness of a new diagnostic protocol: Thirty-five patients were recruited from 9 Spanish centers. Electrocardiogram, echocardiogram, and coronary catheterizat... Full description

Journal Title: The American journal of cardiology 2015, Vol.116 (6), p.894-899
Main Author: Jiménez-Jáimez, Juan, MD, PhD
Other Authors: Peinado, Rafael, MD, PhD , Grima, Esther Zorio, MD, PhD , Segura, Federico, MD , Moriña, Pablo, MD , Sánchez Muñoz, Juan J., MD, PhD , Mazuelos, Francisco, MD, PhD , Cózar, Rocío, MD, PhD , Gimeno, Juan R., MD , Heras, Rocío P., MD , Monserrat, Lorenzo, MD, PhD , Domingo, Diana, MD , Ortiz-Genga, Martín, MD , Fernández Pastor, Julia, MD , Álvarez, Miguel, MD, PhD , Tercedor, Luis, MD
Format: Electronic Article Electronic Article
Language: English
Subjects:
NMR
Publisher: United States: Elsevier Inc
ID: ISSN: 0002-9149
Link: https://www.ncbi.nlm.nih.gov/pubmed/26189708
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title: Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study)
format: Article
creator:
  • Jiménez-Jáimez, Juan, MD, PhD
  • Peinado, Rafael, MD, PhD
  • Grima, Esther Zorio, MD, PhD
  • Segura, Federico, MD
  • Moriña, Pablo, MD
  • Sánchez Muñoz, Juan J., MD, PhD
  • Mazuelos, Francisco, MD, PhD
  • Cózar, Rocío, MD, PhD
  • Gimeno, Juan R., MD
  • Heras, Rocío P., MD
  • Monserrat, Lorenzo, MD, PhD
  • Domingo, Diana, MD
  • Ortiz-Genga, Martín, MD
  • Fernández Pastor, Julia, MD
  • Álvarez, Miguel, MD, PhD
  • Tercedor, Luis, MD
subjects:
  • Abridged Index Medicus
  • Adolescent
  • Adult
  • Analysis
  • Anti-Arrhythmia Agents
  • Arrhythmias, Cardiac - complications
  • Arrhythmias, Cardiac - diagnosis
  • Brugada Syndrome - complications
  • Brugada Syndrome - diagnosis
  • Cardiac arrest
  • Cardiac arrhythmia
  • Cardiac Catheterization - methods
  • Cardiovascular
  • Clinical Protocols
  • Cohort Studies
  • Cross-Sectional Studies
  • Diagnosis
  • Echocardiography - methods
  • Electrocardiogram
  • Electrocardiography
  • Electrocardiography - methods
  • Epinephrine
  • Family
  • Female
  • Flecainide
  • Genetic Testing - methods
  • Heart Arrest - etiology
  • Heart attacks
  • Heart Diseases - complications
  • Heart Diseases - diagnosis
  • Humans
  • Long QT Syndrome - complications
  • Long QT Syndrome - diagnosis
  • Male
  • Middle Aged
  • Mutation
  • NMR
  • Nuclear magnetic resonance
  • Sympathomimetics
  • Tachycardia
  • Tachycardia, Ventricular - complications
  • Tachycardia, Ventricular - diagnosis
  • Young Adult
ispartof: The American journal of cardiology, 2015, Vol.116 (6), p.894-899
description: Unexplained cardiac arrest (UCA) can be caused by low-penetrance genetic disorders. The aim of this cross-sectional study is to assess the usefulness of a new diagnostic protocol: Thirty-five patients were recruited from 9 Spanish centers. Electrocardiogram, echocardiogram, and coronary catheterization were used to rule out electrical or structural heart disease in all subjects. Patients underwent pharmacologic tests with epinephrine and flecainide, followed by assessment of family members using electrocardiogram and echocardiogram, and next-generation genetic sequencing to analyze 126 genes if all the other test results were negative. A firm diagnosis of channelopathy required phenotypic proof of the condition in unmasking tests, the presence of a pathogenic variant consistent with the phenotype observed, and/or co-segregation of the mutation found in a family member's phenotype. A firm diagnosis was made in 18 cases. The diagnoses were 7 Brugada syndrome, 5 catecholaminergic polymorphic ventricular tachycardia, 3 long QT syndrome, 2 early repolarization syndrome, and 1 short QT syndrome. Pharmacologic testing was the most frequent method of diagnosis. In 5 cases, the diagnosis was made based on positive genetic testing without phenotypic alterations. In conclusion, this sequential diagnostic protocol allows diagnoses to be made in approximately half of the UCA cases. These diagnoses are low clinical penetrance channelopathies. If interpreted carefully, genetic tests can be a useful tool for diagnosing UCA without a phenotype.
language: eng
source:
identifier: ISSN: 0002-9149
fulltext: no_fulltext
issn:
  • 0002-9149
  • 1879-1913
url: Link


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titleDiagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study)
creatorJiménez-Jáimez, Juan, MD, PhD ; Peinado, Rafael, MD, PhD ; Grima, Esther Zorio, MD, PhD ; Segura, Federico, MD ; Moriña, Pablo, MD ; Sánchez Muñoz, Juan J., MD, PhD ; Mazuelos, Francisco, MD, PhD ; Cózar, Rocío, MD, PhD ; Gimeno, Juan R., MD ; Heras, Rocío P., MD ; Monserrat, Lorenzo, MD, PhD ; Domingo, Diana, MD ; Ortiz-Genga, Martín, MD ; Fernández Pastor, Julia, MD ; Álvarez, Miguel, MD, PhD ; Tercedor, Luis, MD
creatorcontribJiménez-Jáimez, Juan, MD, PhD ; Peinado, Rafael, MD, PhD ; Grima, Esther Zorio, MD, PhD ; Segura, Federico, MD ; Moriña, Pablo, MD ; Sánchez Muñoz, Juan J., MD, PhD ; Mazuelos, Francisco, MD, PhD ; Cózar, Rocío, MD, PhD ; Gimeno, Juan R., MD ; Heras, Rocío P., MD ; Monserrat, Lorenzo, MD, PhD ; Domingo, Diana, MD ; Ortiz-Genga, Martín, MD ; Fernández Pastor, Julia, MD ; Álvarez, Miguel, MD, PhD ; Tercedor, Luis, MD
descriptionUnexplained cardiac arrest (UCA) can be caused by low-penetrance genetic disorders. The aim of this cross-sectional study is to assess the usefulness of a new diagnostic protocol: Thirty-five patients were recruited from 9 Spanish centers. Electrocardiogram, echocardiogram, and coronary catheterization were used to rule out electrical or structural heart disease in all subjects. Patients underwent pharmacologic tests with epinephrine and flecainide, followed by assessment of family members using electrocardiogram and echocardiogram, and next-generation genetic sequencing to analyze 126 genes if all the other test results were negative. A firm diagnosis of channelopathy required phenotypic proof of the condition in unmasking tests, the presence of a pathogenic variant consistent with the phenotype observed, and/or co-segregation of the mutation found in a family member's phenotype. A firm diagnosis was made in 18 cases. The diagnoses were 7 Brugada syndrome, 5 catecholaminergic polymorphic ventricular tachycardia, 3 long QT syndrome, 2 early repolarization syndrome, and 1 short QT syndrome. Pharmacologic testing was the most frequent method of diagnosis. In 5 cases, the diagnosis was made based on positive genetic testing without phenotypic alterations. In conclusion, this sequential diagnostic protocol allows diagnoses to be made in approximately half of the UCA cases. These diagnoses are low clinical penetrance channelopathies. If interpreted carefully, genetic tests can be a useful tool for diagnosing UCA without a phenotype.
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languageeng
publisherUnited States: Elsevier Inc
subjectAbridged Index Medicus ; Adolescent ; Adult ; Analysis ; Anti-Arrhythmia Agents ; Arrhythmias, Cardiac - complications ; Arrhythmias, Cardiac - diagnosis ; Brugada Syndrome - complications ; Brugada Syndrome - diagnosis ; Cardiac arrest ; Cardiac arrhythmia ; Cardiac Catheterization - methods ; Cardiovascular ; Clinical Protocols ; Cohort Studies ; Cross-Sectional Studies ; Diagnosis ; Echocardiography - methods ; Electrocardiogram ; Electrocardiography ; Electrocardiography - methods ; Epinephrine ; Family ; Female ; Flecainide ; Genetic Testing - methods ; Heart Arrest - etiology ; Heart attacks ; Heart Diseases - complications ; Heart Diseases - diagnosis ; Humans ; Long QT Syndrome - complications ; Long QT Syndrome - diagnosis ; Male ; Middle Aged ; Mutation ; NMR ; Nuclear magnetic resonance ; Sympathomimetics ; Tachycardia ; Tachycardia, Ventricular - complications ; Tachycardia, Ventricular - diagnosis ; Young Adult
ispartofThe American journal of cardiology, 2015, Vol.116 (6), p.894-899
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1Peinado, Rafael, MD, PhD
2Grima, Esther Zorio, MD, PhD
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4Moriña, Pablo, MD
5Sánchez Muñoz, Juan J., MD, PhD
6Mazuelos, Francisco, MD, PhD
7Cózar, Rocío, MD, PhD
8Gimeno, Juan R., MD
9Heras, Rocío P., MD
10Monserrat, Lorenzo, MD, PhD
11Domingo, Diana, MD
12Ortiz-Genga, Martín, MD
13Fernández Pastor, Julia, MD
14Álvarez, Miguel, MD, PhD
15Tercedor, Luis, MD
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0Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study)
1The American journal of cardiology
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descriptionUnexplained cardiac arrest (UCA) can be caused by low-penetrance genetic disorders. The aim of this cross-sectional study is to assess the usefulness of a new diagnostic protocol: Thirty-five patients were recruited from 9 Spanish centers. Electrocardiogram, echocardiogram, and coronary catheterization were used to rule out electrical or structural heart disease in all subjects. Patients underwent pharmacologic tests with epinephrine and flecainide, followed by assessment of family members using electrocardiogram and echocardiogram, and next-generation genetic sequencing to analyze 126 genes if all the other test results were negative. A firm diagnosis of channelopathy required phenotypic proof of the condition in unmasking tests, the presence of a pathogenic variant consistent with the phenotype observed, and/or co-segregation of the mutation found in a family member's phenotype. A firm diagnosis was made in 18 cases. The diagnoses were 7 Brugada syndrome, 5 catecholaminergic polymorphic ventricular tachycardia, 3 long QT syndrome, 2 early repolarization syndrome, and 1 short QT syndrome. Pharmacologic testing was the most frequent method of diagnosis. In 5 cases, the diagnosis was made based on positive genetic testing without phenotypic alterations. In conclusion, this sequential diagnostic protocol allows diagnoses to be made in approximately half of the UCA cases. These diagnoses are low clinical penetrance channelopathies. If interpreted carefully, genetic tests can be a useful tool for diagnosing UCA without a phenotype.
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2Adult
3Analysis
4Anti-Arrhythmia Agents
5Arrhythmias, Cardiac - complications
6Arrhythmias, Cardiac - diagnosis
7Brugada Syndrome - complications
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15Cross-Sectional Studies
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20Electrocardiography - methods
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22Family
23Female
24Flecainide
25Genetic Testing - methods
26Heart Arrest - etiology
27Heart attacks
28Heart Diseases - complications
29Heart Diseases - diagnosis
30Humans
31Long QT Syndrome - complications
32Long QT Syndrome - diagnosis
33Male
34Middle Aged
35Mutation
36NMR
37Nuclear magnetic resonance
38Sympathomimetics
39Tachycardia
40Tachycardia, Ventricular - complications
41Tachycardia, Ventricular - diagnosis
42Young Adult
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titleDiagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study)
authorJiménez-Jáimez, Juan, MD, PhD ; Peinado, Rafael, MD, PhD ; Grima, Esther Zorio, MD, PhD ; Segura, Federico, MD ; Moriña, Pablo, MD ; Sánchez Muñoz, Juan J., MD, PhD ; Mazuelos, Francisco, MD, PhD ; Cózar, Rocío, MD, PhD ; Gimeno, Juan R., MD ; Heras, Rocío P., MD ; Monserrat, Lorenzo, MD, PhD ; Domingo, Diana, MD ; Ortiz-Genga, Martín, MD ; Fernández Pastor, Julia, MD ; Álvarez, Miguel, MD, PhD ; Tercedor, Luis, MD
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0Abridged Index Medicus
1Adolescent
2Adult
3Analysis
4Anti-Arrhythmia Agents
5Arrhythmias, Cardiac - complications
6Arrhythmias, Cardiac - diagnosis
7Brugada Syndrome - complications
8Brugada Syndrome - diagnosis
9Cardiac arrest
10Cardiac arrhythmia
11Cardiac Catheterization - methods
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14Cohort Studies
15Cross-Sectional Studies
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17Echocardiography - methods
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31Long QT Syndrome - complications
32Long QT Syndrome - diagnosis
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34Middle Aged
35Mutation
36NMR
37Nuclear magnetic resonance
38Sympathomimetics
39Tachycardia
40Tachycardia, Ventricular - complications
41Tachycardia, Ventricular - diagnosis
42Young Adult
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3Segura, Federico, MD
4Moriña, Pablo, MD
5Sánchez Muñoz, Juan J., MD, PhD
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7Cózar, Rocío, MD, PhD
8Gimeno, Juan R., MD
9Heras, Rocío P., MD
10Monserrat, Lorenzo, MD, PhD
11Domingo, Diana, MD
12Ortiz-Genga, Martín, MD
13Fernández Pastor, Julia, MD
14Álvarez, Miguel, MD, PhD
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0Jiménez-Jáimez, Juan, MD, PhD
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4Moriña, Pablo, MD
5Sánchez Muñoz, Juan J., MD, PhD
6Mazuelos, Francisco, MD, PhD
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9Heras, Rocío P., MD
10Monserrat, Lorenzo, MD, PhD
11Domingo, Diana, MD
12Ortiz-Genga, Martín, MD
13Fernández Pastor, Julia, MD
14Álvarez, Miguel, MD, PhD
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abstractUnexplained cardiac arrest (UCA) can be caused by low-penetrance genetic disorders. The aim of this cross-sectional study is to assess the usefulness of a new diagnostic protocol: Thirty-five patients were recruited from 9 Spanish centers. Electrocardiogram, echocardiogram, and coronary catheterization were used to rule out electrical or structural heart disease in all subjects. Patients underwent pharmacologic tests with epinephrine and flecainide, followed by assessment of family members using electrocardiogram and echocardiogram, and next-generation genetic sequencing to analyze 126 genes if all the other test results were negative. A firm diagnosis of channelopathy required phenotypic proof of the condition in unmasking tests, the presence of a pathogenic variant consistent with the phenotype observed, and/or co-segregation of the mutation found in a family member's phenotype. A firm diagnosis was made in 18 cases. The diagnoses were 7 Brugada syndrome, 5 catecholaminergic polymorphic ventricular tachycardia, 3 long QT syndrome, 2 early repolarization syndrome, and 1 short QT syndrome. Pharmacologic testing was the most frequent method of diagnosis. In 5 cases, the diagnosis was made based on positive genetic testing without phenotypic alterations. In conclusion, this sequential diagnostic protocol allows diagnoses to be made in approximately half of the UCA cases. These diagnoses are low clinical penetrance channelopathies. If interpreted carefully, genetic tests can be a useful tool for diagnosing UCA without a phenotype.
copUnited States
pubElsevier Inc
pmid26189708
doi10.1016/j.amjcard.2015.06.030