Mots-clés
![]()
arythmie cardiaqueSynonyme(s)cardiac arrhythmia ;trouble du rythme cardiaque heart arrhythmiaVoir aussi |



Etendre la recherche sur niveau(x) vers le bas
![]()
Letter by Aimo et al Regarding Article, "Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies"
Aimo A, Barison A, Emdin M
Circulation, 2019, 140, 23
Revue : Circulation, 140, 23 Titre : Letter by Aimo et al Regarding Article, "Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies" Type de document : Article Auteurs : Aimo A ; Barison A ; Emdin M Editeur : United States Année de publication : 12/2019 Langues : Anglais (eng) Mots-clés : arythmie cardiaque ; gène LMNA ; lamine (maladie neuromusculaire liée à) ; lettre ; trouble cardiaque Pubmed / DOI : Pubmed : 31790299 / DOI : 10.1161/CIRCULATIONAHA.119.042425
N° Profil MNM : 2019121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31790299 Voir aussi
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Wahbi K, Ben Yaou R, Gandjbakhch E, et al.
Circulation, 2019
Response by Wahbi and Stalens to Letter Regarding Article, "Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies"
Wahbi K, Stalens C
Circulation, 2019, 140, 23
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
Letter by Barriales-Villa et al Regarding Article, "Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies"
Barriales-Villa R, Larranaga-Moreira JM, Ochoa JP
Circulation, 2019, 140, 23
Revue : Circulation, 140, 23 Titre : Letter by Barriales-Villa et al Regarding Article, "Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies" Type de document : Article Auteurs : Barriales-Villa R ; Larranaga-Moreira JM ; Ochoa JP Editeur : United States Année de publication : 12/2019 Langues : Anglais (eng) Mots-clés : arythmie cardiaque ; gène LMNA ; lamine (maladie neuromusculaire liée à) ; lettre ; trouble cardiaque Pubmed / DOI : Pubmed : 31790298 / DOI : 10.1161/CIRCULATIONAHA.119.043823
N° Profil MNM : 2019121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31790298 Voir aussi
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Wahbi K, Ben Yaou R, Gandjbakhch E, et al.
Circulation, 2019
Response by Wahbi and Stalens to Letter Regarding Article, "Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies"
Wahbi K, Stalens C
Circulation, 2019, 140, 23
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
Response by Wahbi and Stalens to Letter Regarding Article, "Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies"
Wahbi K, Stalens C
Circulation, 2019, 140, 23
Revue : Circulation, 140, 23 Titre : Response by Wahbi and Stalens to Letter Regarding Article, "Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies" Type de document : Article Auteurs : Wahbi K ; Stalens C Editeur : United States Année de publication : 12/2019 Langues : Anglais (eng) Mots-clés : arythmie cardiaque ; gène LMNA ; lamine (maladie neuromusculaire liée à) ; lettre ; trouble cardiaque Pubmed / DOI : Pubmed : 31790294 / DOI : 10.1161/CIRCULATIONAHA.119.044322
N° Profil MNM : 2019121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31790294 Voir aussi
Letter by Aimo et al Regarding Article, "Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies"
Aimo A, Barison A, Emdin M
Circulation, 2019, 140, 23
Letter by Barriales-Villa et al Regarding Article, "Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies"
Barriales-Villa R, Larranaga-Moreira JM, Ochoa JP
Circulation, 2019, 140, 23
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Wahbi K, Ben Yaou R, Gandjbakhch E, et al.
Circulation, 2019
Voir aussi
Letter by Aimo et al Regarding Article, "Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies"
Aimo A, Barison A, Emdin M
Circulation, 2019, 140, 23
Letter by Barriales-Villa et al Regarding Article, "Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies"
Barriales-Villa R, Larranaga-Moreira JM, Ochoa JP
Circulation, 2019, 140, 23
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
Andersen-Tawil Syndrome : Synonym: Long QT Syndrome Type 7 (LQTS Type 7)
Veerapandiyan A, Statland JM, Tawil R
GeneReviews® [Internet], 2018
Revue : GeneReviews® [Internet] Titre : Andersen-Tawil Syndrome : Synonym: Long QT Syndrome Type 7 (LQTS Type 7) Type de document : Article Auteurs : Veerapandiyan A ; Statland JM ; Tawil R Année de publication : 07/06/2018 Langues : Anglais (eng) Mots-clés : article de synthèse ; arythmie cardiaque ; cardiomyopathie dilatée ; conseil génétique ; corrélation génotype-phénotype ; diagnostic différentiel ; diagnostic moléculaire ; électrocardiographie ; électrophysiologie ; épilepsie ; examen clinique ; faiblesse musculaire ; gène KCNJ2 ; génétique moléculaire ; malformation ; paralysie périodique ; pénétrance ; potassium ; prévention des complications ; prise en charge thérapeutique ; syndrome d'Andersen-Tawil ; trouble de l'apprentissage Résumé : Initial Posting: November 22, 2004; Last Update: June 7, 2018.
Clinical characteristics.
Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Affected individuals present in the first or second decade with either cardiac symptoms (palpitations and/or syncope) or weakness that occurs spontaneously following prolonged rest or following rest after exertion. Mild permanent weakness is common. Mild learning difficulties and a distinct neurocognitive phenotype (i.e., deficits in executive function and abstract reasoning) have been described.
Diagnosis/testing.
The diagnosis of ATS is established in an individual with characteristic clinical and ECG findings and/or identification of a pathogenic variant in KCNJ2.
Management.
Treatment of manifestations: For episodic weakness: if serum potassium concentration is low (
Prevention of primary manifestations: Reduction in frequency and severity of episodic attacks of weakness with lifestyle/dietary modification to avoid known triggers; use of carbonic anhydrase inhibitors; daily use of slow-release potassium supplements; implantable cardioverter-defibrillator for those with tachycardia-induced syncope. Empiric treatment with flecainide should be considered for significant, frequent ventricular arrhythmias in the setting of reduced left ventricular function.
Prevention of secondary complications: Cautious use of antiarrhythmic drugs (particularly class I drugs) that may paradoxically exacerbate the neuromuscular symptoms.
Surveillance: Annual screening of asymptomatic individuals with a KCNJ2 pathogenic variant with a 12-lead ECG and 24-hour Holter monitoring.
Agents/circumstances to avoid: Medications known to prolong QT intervals; salbutamol inhalers (may exacerbate cardiac arrhythmias); thiazide and other potassium-wasting diuretics (may provoke drug-induced hypokalemia and could aggravate the QT interval prolongation).
Evaluation of relatives at risk: Molecular genetic testing if the pathogenic variant is known; if not, detailed neurologic and cardiologic evaluation, 12-lead ECG, and 24-hour Holter monitoring to reduce morbidity and mortality through early diagnosis and treatment of at-risk relatives.
Genetic counseling.
ATS is inherited in an autosomal dominant manner. At least 50% of individuals diagnosed with ATS have an affected parent. Up to 50% of affected individuals have ATS as the result of a de novo pathogenic variant. Each child of an individual with ATS has a 50% chance of inheriting the disorder. Prenatal diagnosis for pregnancies at increased risk is possible if the KCNJ2 pathogenic variant has been identified in an affected family member.Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 20301441 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening
Herbert M, Cope H, Li JS, et al.
The Journal of pediatrics, 2018
Permalink![]()
Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities
Szymaiska E, Szymaiska S, Truszkowska G, et al.
Archives of medical science : AMS, 2018, 14, 1, p 237
Permalink![]()
Lamin and the heart
Captur G, Arbustini E, Bonne G, et al.
Heart (British Cardiac Society), 2018, 104, 6, p 468
Permalink![]()
Cardiac Involvement in Duchenne Muscular Dystrophy and Related Dystrophinopathies
Mavrogeni SI, Markousis-Mavrogenis G, Papavasiliou A, et al.
Methods in molecular biology, 2018, 1687, p 31
Permalink![]()
Low-symptomatic skeletal muscle disease in patients with a cardiac disease - Diagnostic approach in skeletal muscle laminopathies
Madej-Pilarczyk A, Marchel M, Ochman K, et al.
Neurologia i neurochirurgia polska, 2018, 52, 2, p 174
Permalink![]()
Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management
Birnkrant DJ, Bushby K, Bann CM, et al.
The Lancet. Neurology, 2018, 17, 4, p 347
Permalink![]()
ACE inhibition to slow progression of myocardial fibrosis in muscular dystrophies
Russo V, Papa AA, Williams EA, et al.
Trends in cardiovascular medicine, 2017
PermalinkPermalink![]()
Inflammatory myopathy associated with antimitochondrial antibodies: A distinct phenotype with cardiac involvement
Albayda J, Khan A, Casciola-Rosen L, et al.
Seminars in arthritis and rheumatism, 2017
Permalink![]()
Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry
Chong-Nguyen C, Wahbi K, Algalarrondo V, et al.
Circulation. Cardiovascular genetics, 2017, 10, 3
Permalink![]()
Repeats and Survival in Myotonic Dystrophy Type 1
Wheeler MT
Circulation. Cardiovascular genetics, 2017, 10, 3
Permalink![]()
Evaluation of cardiac functions in children with Duchenne Muscular Dystrophy: A prospective case-control study
Sadek AA, Mahmoud SM, El-Aal MA, et al.
Electronic physician, 2017, 9, 11, p 5732
Permalink![]()
Andersen-Tawil Syndrome with Early Onset Myopathy: 2 Cases
Oz Tuncer G, Teber S, Kutluk MG, et al.
Journal of Neuromuscular Diseases, 2017, 4, 1, p 93
Permalink![]()
Cardiac Involvement Classification and Therapeutic Management in Patients with Duchenne Muscular Dystrophy
Fayssoil A, Abasse S, Silverston K
Journal of Neuromuscular Diseases, 2017, 4, 1, p 17
Permalink![]()
Risk for Complications after Pacemaker or Cardioverter Defibrillator Implantations in Patients with Myotonic Dystrophy Type 1
Sochala M, Wahbi K, Sorbets E, et al.
Journal of Neuromuscular Diseases, 2017, 4, 3, p 175
Permalink![]()
Optical Mapping Approaches on Muscleblind-Like Compound Knockout Mice for Understanding Mechanistic Insights Into Ventricular Arrhythmias in Myotonic Dystrophy
Chou CC, Chang PC, Wei YC, et al.
Journal of the American Heart Association, 2017, 6, 4
Permalink![]()
Cardiac pathology in spinal muscular atrophy: a systematic review
Wijngaarde CA, Blank AC, Stam M, et al.
Orphanet journal of rare diseases, 2017, 12, 1
Permalink![]()
Un diabète particulièrement compliqué
Ambonville C, Bouldouyre MA, Laforêt P, et al.
La Revue de medecine interne, 2017, 38, 10, p 695
PermalinkPermalink![]()
Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders
Sommerville RB, Vincenti MG, Winborn K, et al.
Trends in cardiovascular medicine, 2017, 27, 1, p 51
Permalink