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January 01, 2013; 80 (1) Article

High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation

Edoardo Malfatti, Pascal Laforêt, Claude Jardel, Tanya Stojkovic, Anthony Behin, Bruno Eymard, Anne Lombès, Amria Benmalek, Henri-Marc Bécane, Nawal Berber, Christophe Meune, Denis Duboc, Karim Wahbi
First published December 12, 2012, DOI: https://doi.org/10.1212/WNL.0b013e31827b1a2f
Edoardo Malfatti
From the AP-HP, Pitié-Salpêtrière Hospital (E.M., P.L., T.S., A.B., B.E., A.B., H.-M.B., N.B. K.W.), Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France; Department of Neurological, Neurosurgical, and Behavioral Sciences (E.M.), University of Siena, Italy; AP-HP, Biochemistry Department (C.J.), Pitié-Salpêtrière Hospital, Paris; AP-HP, Cochin Hospital (C.M., D.D.), Department of Cardiology, Paris Descartes University, Paris; INSERM (A.L.), UMRS 975 Cochin Hospital, APHP, Paris; Paris-Descartes (C.M., D.D.), Sorbonne Paris Cité University, Paris; and Pierre et Marie Curie–Paris 6 University (K.W.), Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
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Pascal Laforêt
From the AP-HP, Pitié-Salpêtrière Hospital (E.M., P.L., T.S., A.B., B.E., A.B., H.-M.B., N.B. K.W.), Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France; Department of Neurological, Neurosurgical, and Behavioral Sciences (E.M.), University of Siena, Italy; AP-HP, Biochemistry Department (C.J.), Pitié-Salpêtrière Hospital, Paris; AP-HP, Cochin Hospital (C.M., D.D.), Department of Cardiology, Paris Descartes University, Paris; INSERM (A.L.), UMRS 975 Cochin Hospital, APHP, Paris; Paris-Descartes (C.M., D.D.), Sorbonne Paris Cité University, Paris; and Pierre et Marie Curie–Paris 6 University (K.W.), Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
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Claude Jardel
From the AP-HP, Pitié-Salpêtrière Hospital (E.M., P.L., T.S., A.B., B.E., A.B., H.-M.B., N.B. K.W.), Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France; Department of Neurological, Neurosurgical, and Behavioral Sciences (E.M.), University of Siena, Italy; AP-HP, Biochemistry Department (C.J.), Pitié-Salpêtrière Hospital, Paris; AP-HP, Cochin Hospital (C.M., D.D.), Department of Cardiology, Paris Descartes University, Paris; INSERM (A.L.), UMRS 975 Cochin Hospital, APHP, Paris; Paris-Descartes (C.M., D.D.), Sorbonne Paris Cité University, Paris; and Pierre et Marie Curie–Paris 6 University (K.W.), Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
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Tanya Stojkovic
From the AP-HP, Pitié-Salpêtrière Hospital (E.M., P.L., T.S., A.B., B.E., A.B., H.-M.B., N.B. K.W.), Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France; Department of Neurological, Neurosurgical, and Behavioral Sciences (E.M.), University of Siena, Italy; AP-HP, Biochemistry Department (C.J.), Pitié-Salpêtrière Hospital, Paris; AP-HP, Cochin Hospital (C.M., D.D.), Department of Cardiology, Paris Descartes University, Paris; INSERM (A.L.), UMRS 975 Cochin Hospital, APHP, Paris; Paris-Descartes (C.M., D.D.), Sorbonne Paris Cité University, Paris; and Pierre et Marie Curie–Paris 6 University (K.W.), Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
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Anthony Behin
From the AP-HP, Pitié-Salpêtrière Hospital (E.M., P.L., T.S., A.B., B.E., A.B., H.-M.B., N.B. K.W.), Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France; Department of Neurological, Neurosurgical, and Behavioral Sciences (E.M.), University of Siena, Italy; AP-HP, Biochemistry Department (C.J.), Pitié-Salpêtrière Hospital, Paris; AP-HP, Cochin Hospital (C.M., D.D.), Department of Cardiology, Paris Descartes University, Paris; INSERM (A.L.), UMRS 975 Cochin Hospital, APHP, Paris; Paris-Descartes (C.M., D.D.), Sorbonne Paris Cité University, Paris; and Pierre et Marie Curie–Paris 6 University (K.W.), Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
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Bruno Eymard
From the AP-HP, Pitié-Salpêtrière Hospital (E.M., P.L., T.S., A.B., B.E., A.B., H.-M.B., N.B. K.W.), Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France; Department of Neurological, Neurosurgical, and Behavioral Sciences (E.M.), University of Siena, Italy; AP-HP, Biochemistry Department (C.J.), Pitié-Salpêtrière Hospital, Paris; AP-HP, Cochin Hospital (C.M., D.D.), Department of Cardiology, Paris Descartes University, Paris; INSERM (A.L.), UMRS 975 Cochin Hospital, APHP, Paris; Paris-Descartes (C.M., D.D.), Sorbonne Paris Cité University, Paris; and Pierre et Marie Curie–Paris 6 University (K.W.), Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
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Anne Lombès
From the AP-HP, Pitié-Salpêtrière Hospital (E.M., P.L., T.S., A.B., B.E., A.B., H.-M.B., N.B. K.W.), Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France; Department of Neurological, Neurosurgical, and Behavioral Sciences (E.M.), University of Siena, Italy; AP-HP, Biochemistry Department (C.J.), Pitié-Salpêtrière Hospital, Paris; AP-HP, Cochin Hospital (C.M., D.D.), Department of Cardiology, Paris Descartes University, Paris; INSERM (A.L.), UMRS 975 Cochin Hospital, APHP, Paris; Paris-Descartes (C.M., D.D.), Sorbonne Paris Cité University, Paris; and Pierre et Marie Curie–Paris 6 University (K.W.), Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
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Amria Benmalek
From the AP-HP, Pitié-Salpêtrière Hospital (E.M., P.L., T.S., A.B., B.E., A.B., H.-M.B., N.B. K.W.), Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France; Department of Neurological, Neurosurgical, and Behavioral Sciences (E.M.), University of Siena, Italy; AP-HP, Biochemistry Department (C.J.), Pitié-Salpêtrière Hospital, Paris; AP-HP, Cochin Hospital (C.M., D.D.), Department of Cardiology, Paris Descartes University, Paris; INSERM (A.L.), UMRS 975 Cochin Hospital, APHP, Paris; Paris-Descartes (C.M., D.D.), Sorbonne Paris Cité University, Paris; and Pierre et Marie Curie–Paris 6 University (K.W.), Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
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Henri-Marc Bécane
From the AP-HP, Pitié-Salpêtrière Hospital (E.M., P.L., T.S., A.B., B.E., A.B., H.-M.B., N.B. K.W.), Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France; Department of Neurological, Neurosurgical, and Behavioral Sciences (E.M.), University of Siena, Italy; AP-HP, Biochemistry Department (C.J.), Pitié-Salpêtrière Hospital, Paris; AP-HP, Cochin Hospital (C.M., D.D.), Department of Cardiology, Paris Descartes University, Paris; INSERM (A.L.), UMRS 975 Cochin Hospital, APHP, Paris; Paris-Descartes (C.M., D.D.), Sorbonne Paris Cité University, Paris; and Pierre et Marie Curie–Paris 6 University (K.W.), Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
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Nawal Berber
From the AP-HP, Pitié-Salpêtrière Hospital (E.M., P.L., T.S., A.B., B.E., A.B., H.-M.B., N.B. K.W.), Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France; Department of Neurological, Neurosurgical, and Behavioral Sciences (E.M.), University of Siena, Italy; AP-HP, Biochemistry Department (C.J.), Pitié-Salpêtrière Hospital, Paris; AP-HP, Cochin Hospital (C.M., D.D.), Department of Cardiology, Paris Descartes University, Paris; INSERM (A.L.), UMRS 975 Cochin Hospital, APHP, Paris; Paris-Descartes (C.M., D.D.), Sorbonne Paris Cité University, Paris; and Pierre et Marie Curie–Paris 6 University (K.W.), Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
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Christophe Meune
From the AP-HP, Pitié-Salpêtrière Hospital (E.M., P.L., T.S., A.B., B.E., A.B., H.-M.B., N.B. K.W.), Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France; Department of Neurological, Neurosurgical, and Behavioral Sciences (E.M.), University of Siena, Italy; AP-HP, Biochemistry Department (C.J.), Pitié-Salpêtrière Hospital, Paris; AP-HP, Cochin Hospital (C.M., D.D.), Department of Cardiology, Paris Descartes University, Paris; INSERM (A.L.), UMRS 975 Cochin Hospital, APHP, Paris; Paris-Descartes (C.M., D.D.), Sorbonne Paris Cité University, Paris; and Pierre et Marie Curie–Paris 6 University (K.W.), Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
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Denis Duboc
From the AP-HP, Pitié-Salpêtrière Hospital (E.M., P.L., T.S., A.B., B.E., A.B., H.-M.B., N.B. K.W.), Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France; Department of Neurological, Neurosurgical, and Behavioral Sciences (E.M.), University of Siena, Italy; AP-HP, Biochemistry Department (C.J.), Pitié-Salpêtrière Hospital, Paris; AP-HP, Cochin Hospital (C.M., D.D.), Department of Cardiology, Paris Descartes University, Paris; INSERM (A.L.), UMRS 975 Cochin Hospital, APHP, Paris; Paris-Descartes (C.M., D.D.), Sorbonne Paris Cité University, Paris; and Pierre et Marie Curie–Paris 6 University (K.W.), Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
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Karim Wahbi
From the AP-HP, Pitié-Salpêtrière Hospital (E.M., P.L., T.S., A.B., B.E., A.B., H.-M.B., N.B. K.W.), Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France; Department of Neurological, Neurosurgical, and Behavioral Sciences (E.M.), University of Siena, Italy; AP-HP, Biochemistry Department (C.J.), Pitié-Salpêtrière Hospital, Paris; AP-HP, Cochin Hospital (C.M., D.D.), Department of Cardiology, Paris Descartes University, Paris; INSERM (A.L.), UMRS 975 Cochin Hospital, APHP, Paris; Paris-Descartes (C.M., D.D.), Sorbonne Paris Cité University, Paris; and Pierre et Marie Curie–Paris 6 University (K.W.), Myology Institute, Pitié-Salpêtrière Hospital, Paris, France.
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Citation
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation
Edoardo Malfatti, Pascal Laforêt, Claude Jardel, Tanya Stojkovic, Anthony Behin, Bruno Eymard, Anne Lombès, Amria Benmalek, Henri-Marc Bécane, Nawal Berber, Christophe Meune, Denis Duboc, Karim Wahbi
Neurology Jan 2013, 80 (1) 100-105; DOI: 10.1212/WNL.0b013e31827b1a2f

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ABSTRACT

Objectives: To determine the long-term incidence of cardiac life-threatening complications and death in patients with the m.3243A>G mutation, and to identify cardiac prognostic factors.

Methods: We retrospectively included patients carrying the m.3243A>G mutation who were admitted to the Neuromuscular Disease Clinic of Pitié Salpêtrière Hospital between January 1992 and December 2010. We collected information relative to their yearly neurologic and cardiac investigations, their mutation load in blood, urine, and muscle at initial admission, and the occurrence of cardiac life-threatening adverse events and death during follow-up.

Results: Forty-one patients (median age = 47 years [36–55 years], men = 13) were included, of whom 38 had clinical manifestations of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and 3 were asymptomatic. One patient had a personal history of cardiac transplantation. Cardiac investigations displayed left ventricular hypertrophy, left ventricular dysfunction, or both abnormalities in 18 patients, along with Wolff-Parkinson-White syndrome in 7, conduction system disease in 4, and atrial fibrillation in 1. Over a median 5-year (3–9 years) follow-up period, 11 patients died, including 3 due to heart failure; 7 had life-threatening adverse events, including 6 hospitalizations for severe heart failure and 1 resuscitated cardiac arrest. By multivariate analysis, left ventricular hypertrophy was the only parameter independently associated with occurrence of cardiac adverse events.

Conclusion: Patients with the m.3243A>G mutation have a high incidence of cardiac death and life-threatening adverse events. Left ventricular hypertrophy was the only parameter independently associated with occurrence of these events.

GLOSSARY

DGGE=
denaturing gradient gel electrophoresis;
LV=
left ventricular;
m.3243A>G=
A-to-G transition at nucleotide 3243;
MELAS=
mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes

Footnotes

  • Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • Supplemental data at www.neurology.org

  • Received April 16, 2012.
  • Accepted August 14, 2012.
  • © 2012 American Academy of Neurology
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