Genomes and Genes
- Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1Karim Wahbi
Service de cardiologie, Universite Paris Descartes, Hopital Cochin, AP HP, 27, rue du Faubourg Saint Jacques, 75014 Paris, France Institut de Myologie, Universite Pierre et Marie Curie, Hopital Pitie Salpetriere, AP HP, 75013 Paris, France Electronic address
Arch Cardiovasc Dis 106:635-43. 2013..In patients with myotonic dystrophy type 1 (DM1), the mechanisms underlying sudden cardiac death, which occurs in up to 1/3 of patients, are unclear...
- Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system diseaseKarim Wahbi
Pierre et Marie Curie Paris 6 University, Myology Institute, Pitie Salpetriere Hospital, 75013 Paris, France
JAMA 307:1292-301. 2012..Up to one-third of patients with myotonic dystrophy type 1 die suddenly. Thus far, no intervention has effectively prevented sudden death...
- Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging studyKarim Wahbi
Myology Institute, Pitie Salpetriere Hospital, APHP, Paris, France
Neuromuscul Disord 18:650-5. 2008..Reduced contractility and cardiac magnetic resonance imaging morphological abnormalities are highly prevalent in LGMD2I patients suggesting that all patients should be referred for cardiac evaluation...
- Left ventricular non-compaction in a patient with myotonic dystrophy type 2Karim Wahbi
Department of Cardiology, Cochin Hospital, Assistance Publique Hopitaux de Paris, Rene Descartes University, 27 rue du Fg St Jacques, 75014 Paris, France
Neuromuscul Disord 18:331-3. 2008..Left ventricular non-compaction diagnosis is often overlooked. Neurological examination should be performed in all patients with left ventricular non-compaction...
- Left ventricular dysfunction and cardiac arrhythmias are frequent in type 2 myotonic dystrophy: a case control studyKarim Wahbi
Myology Institute, Pitie Salpetriere Hospital, APHP, 47 83 boulevard de l Hopital, Paris Cedex 13, France
Neuromuscul Disord 19:468-72. 2009..Our study suggests that systematic cardiac investigations should be recommended in these patients...
- Influence of age and renal function on high-sensitivity cardiac troponin T diagnostic accuracy for the diagnosis of acute myocardial infarctionCamille Chenevier-Gobeaux
Clinical Chemistry Laboratory, Groupe Hospitalier Cochin Broca Hôtel Dieu, Universite Paris Descartes, Assistance publique des Hôpitaux de Paris APHP, Paris, France
Am J Cardiol 111:1701-7. 2013..2 [1.2-3.9], p = 0.007). In conclusion, adapted thresholds of HScTnT are required for an accurate diagnosis of AMI/NSTEMI in patients aged ≥70 and in those with low eGFR...
- High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal studyKarim Wahbi
Institut de Myologie, Hopital Pitie Salpetriere, APHP, Paris, France
Neuromuscul Disord 22:211-8. 2012..Our study underscores that in DES patients in-depth cardiac investigations are needed to prevent cardiac conduction system disease...
- Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvementChristophe Meune
Universite Paris Descartes, AP HP, Departement de Cardiologie, Groupe Hospitalier Cochin, F 75014, France
Neuromuscul Disord 22:252-7. 2012..90 [0.76-1.04]; p=0.01). Blood glutathione decrease may allow the detection of reduced contractility in muscular dystrophic LMNA-mutated patients with still preserved LVEF...
- High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutationEdoardo Malfatti
AP HP, Pitie Salpetriere Hospital, Reference Center for Muscle Diseases Paris Est, Myology Institute, Paris, France
Neurology 80:100-5. 2013..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...
- Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-upDenis Duboc
Department of Cardiology, Cochin Hospital, APHP, Paris V René Descartes University, Paris, France
Am Heart J 154:596-602. 2007....
- Mid-regional pro atrial natriuretic peptide allows the accurate identification of patients with atrial fibrillation of short time of onset: a pilot studyChristophe Meune
Universite Paris Descartes, Departement de Cardiologie, Groupe Hospitalier Cochin Broca Hôtel Dieu, Assistance Publique des Hopitaux de Paris, 27 rue du Fbg St Jacques, 75679 Paris Cedex 14, France
Clin Biochem 44:1315-9. 2011..A delay of AF onset >48 h is believed to be clinically significant. Mid-regional pro A-type natriuretic peptide (MR-proANP) could be of interest in the identification of the time from onset of AF to presentation...
- Cardiac involvement in systemic sclerosis assessed by tissue-doppler echocardiography during routine care: A controlled study of 100 consecutive patientsChristophe Meune
Hopital Cochin, Universite Paris Descartes, Assistance Publique Hopitaux de Paris, Paris, France
Arthritis Rheum 58:1803-9. 2008..To assess the prevalence of primary cardiac complications in a large population of patients with systemic sclerosis (SSc), using recently developed echocardiographic techniques...
- Performance of glycogen phosphorylase isoenzyme BB is weak in the detection of patients with non-ST-elevation acute coronary syndromeChristophe Meune
Cardiology Department, Universite Paris Descartes, Groupe Hospitalier Cochin Broca Hôtel Dieu, APHP, Paris, France
Clin Biochem 44:1343-5. 2011..To examine the diagnostic performance of glycogen-phosphorylase-isoenzyme-BB (GPBB) combined with cardiac troponin I (cTnI) in acute coronary syndrome (ACS)...
- N-terminal Pro brain natriuretic peptide is a reliable biomarker of reduced myocardial contractility in patients with lamin A/C gene mutationsChristophe Meune
Universite Paris Descartes, Departement de Cardiologie, Hopital Cochin, AP HP, Paris, France
Int J Cardiol 151:160-3. 2011..We examined the ability of the N-terminal brain natriuretic peptide (NT-proBNP) to detect LV or right ventricular (RV) dysfunction in patients with lamin A/C (LMNA) gene mutations...
- Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic studyPascal Laforet
AP HP, Centre de Référence de Pathologie Neuromusculaire Paris Est, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Paris, France
Mol Genet Metab 108:125-31. 2013..Two patients had elevated triglycerides and low cholesterol-HDL. Based on these analyses, regular control of cardiometabolic risks appear mandatory in the clinical follow-up of these subjects...
- Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1Vincent Algalarrondo
INSERM UMRS 1166, Institute of Cardio Metabolism and Nutrition ICAN, Pierre and Marie Curie University, Paris, France INSERM U 769, LabEx LERMIT, Chatenay Malabry, Paris, France
Neuromuscul Disord 25:308-20. 2015..This result should guide pharmaceutical and clinical research toward better therapy for the cardiac arrhythmias associated with DM1. ..
- Prediction of pulmonary hypertension related to systemic sclerosis by an index based on simple clinical observationsChristophe Meune
Paris Descartes University and Department of Rheumatology A, Cochin Hospital, AP HP, Paris, France
Arthritis Rheum 63:2790-6. 2011..To develop a score to estimate the risk of developing pulmonary hypertension (PH) in patients with systemic sclerosis (SSc)...
- Meta-analysis of Renin-Angiotensin-aldosterone blockade for heart failure in presence of preserved left ventricular functionChristophe Meune
Cardiology Department, Cochin Hospital, APHP, Universite Paris Descartes, Paris, France
J Cardiovasc Pharmacol Ther 16:368-75. 2011..To overcome this limitation, we performed a meta-analysis of the randomized trials of ACE inhibitors or ARB in patients with HF and preserved LVEF...
- Myocardial dysfunction in rheumatoid arthritis: a controlled tissue-Doppler echocardiography studyChristophe Meune
Department of Cardiology, Paris Descartes University, Medical School, Cochin Hospital, Paris, France
J Rheumatol 34:2005-9. 2007..To determine the sensitivity and accuracy of tissue-Doppler echocardiography (TDE) to assess myocardial contractility. Heart failure is one of the determinants of the excess in mortality in patients with rheumatoid arthritis (RA)...
- Effects of aspirin and clopidogrel on plasma brain natriuretic peptide in patients with heart failure receiving ACE inhibitorsChristophe Meune
Department of Cardiology, Cochin Hospital, Paris, France
Eur J Heart Fail 9:197-201. 2007..By inhibiting prostaglandins, aspirin may be deleterious in heart failure (HF) and/or may counteract angiotensin-converting enzyme (ACE) inhibitor efficacy. Conversely, clopidogrel has no effect on prostaglandin metabolism...
- Combination of copeptin and high-sensitivity cardiac troponin T assay in unstable angina and non-ST-segment elevation myocardial infarction: a pilot studyChristophe Meune
Cardiology Department, Hopital Cochin, AP HP, Universite Paris Descartes, Paris Cedex 14, France
Arch Cardiovasc Dis 104:4-10. 2011..High-sensitivity cardiac troponin assays have improved the detection of acute coronary syndrome...
- A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosisPascal Laforet
Institut de Myologie, Batiment Babinski, Groupe Hospitalier Pitie Salpetriere, Paris, France
Neuromuscul Disord 16:178-82. 2006..Considering those results, PRKAG2 gene could be a potential candidate for unexplained muscle glycogenosis associated with cardiac abnormalities...