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Lenegre Disease

Lenegre-Lev Syndrome

Lenegre disease refers to disturbances in the cardiac conduction network that typically lead to atrioventricular (AV) and bundle branch block. This disease is a result of genetic and age-related processes. Patients are at risk for life-threatening complications such as heart failure and sudden cardiac death.


Presentation

Lenegre disease, also known as progressive cardiac conduction defect (PCCD), is described as an alteration in the cardiac conduction network [1] [2]. It is believed that this disease is caused by a mutation in the SCN5A gene in combination with age-related degeneration and fibrosis of the His-Purkinje system and its branches [3] [4]. An electrocardiogram (EKG) performed in affected individuals will reveal a conduction delay in the His-Purkinje tissues and varying degrees of arterioventricular (AV) block and differing types of branch block [5] [6]. The cardiac structure and function are typically normal in these patients.

Lenegre disease is considered as one of the most predominant conductive disturbances and is a common cause of pacemaker implantation worldwide. Moreover, it is diagnosed in patients below the age of 50 who have unexplained conduction disease but normal heart structure and likely a family history positive for Lenegre disease [7].

While some patients exhibit no symptoms, others experience dyspnea, lightheadedness, dizziness, abdominal pain, and syncope. As a result of complete AV heart block, complications such as left ventricular dilatation, heart failure, and sudden cardiac death may ensue. The latter commonly occurs in advanced cases of first-degree AV block accompanied by a bi- fascicular block as well as patients with symptomatic AV block. However, pacemaker implantation improves the prognosis significantly.

Fatigue
  • The case of a 22-year-old white male without known heart disease who presented with activity related lightheadedness at age 19 and dizziness and fatigue at age 21 is described.[scholars.northwestern.edu]
  • Abstract The case of a 22-year-old white male without known heart disease who presented with activity related lightheadedness at age 19 and dizziness and fatigue at age 21 is described.[ncbi.nlm.nih.gov]
  • Mobitz Type I patients may experience dizziness, fatigue, and intolerance to exercise due to the delay of the electrical impulses in the heart.[vacardio.com]
  • Presentation Bradycardia may be asymptomatic but can present with syncope, fatigue or dizziness.[patient.info]
  • The diagnosis is usually made when detecting a slow pulse or by presentation with fatigue or syncope, though syncope can herald a more ominous course. Fig. 16.3 Complete heart block with junctional escape.[thoracickey.com]
Death in Infancy
  • […] in Infancy Focus on Prolonged Repolarization 924 Sudden Cardiac Death in Kidney Diseases 934 Index 943 حقوق النشر[books.google.com]
Pathologist
  • SNOMED CT (R) was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO."[doctor.am]
Heart Disease
  • The case of a 22-year-old white male without known heart disease who presented with activity related lightheadedness at age 19 and dizziness and fatigue at age 21 is described.[scholars.northwestern.edu]
  • The majority of these new referrals are not for congenital heart disease.[books.google.com]
  • Imaging An echocardiogram and/or cardiac magnetic resonance imaging (MRI) are performed to assess the contractile function and structure of the heart and to rule out underlying abnormalities such as cardiomyopathy and congenital heart disease.[symptoma.com]
  • Abstract The case of a 22-year-old white male without known heart disease who presented with activity related lightheadedness at age 19 and dizziness and fatigue at age 21 is described.[ncbi.nlm.nih.gov]
Heart Disease
  • The case of a 22-year-old white male without known heart disease who presented with activity related lightheadedness at age 19 and dizziness and fatigue at age 21 is described.[scholars.northwestern.edu]
  • The majority of these new referrals are not for congenital heart disease.[books.google.com]
  • Imaging An echocardiogram and/or cardiac magnetic resonance imaging (MRI) are performed to assess the contractile function and structure of the heart and to rule out underlying abnormalities such as cardiomyopathy and congenital heart disease.[symptoma.com]
  • Abstract The case of a 22-year-old white male without known heart disease who presented with activity related lightheadedness at age 19 and dizziness and fatigue at age 21 is described.[ncbi.nlm.nih.gov]
Palpitations
  • Second were rhythm and rhythm related problems (inclusive of palpitations, abnormal ECG and diagnosed premature beats) constituted 19% of the total.[books.google.com]
  • […] followed by the left anterior fascicle and the highly or complete atrioventricular block found in severe cases.Patients with single or double bundle branch block frequently appear asymptomatic and do not require treatment,yet may experience considerable palpitation[en.cnki.com.cn]
  • NIH: National Heart, Lung, and Blood Institute Arrhythmias Atrial fibrillation or flutter Cardiac ablation procedures Cardioversion Ectopic heartbeat Electrocardiogram Exercise stress test Heart block Heart palpitations His bundle electrography Holter[icdlist.com]
  • Complete heart block can cause a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, fainting (syncope), or sudden cardiac arrest and death.[findzebra.com]
  • Clinicians should ask about dizziness, syncope, palpitations, or a change in exercise tolerance.[clinicaladvisor.com]
Vascular Disease
  • Infiltrative cardiomyopathies and collagen-vascular diseases can also cause AV block. A variety of viral bacterial and parasitic etiologies of myocarditis can result in varying degrees of AV block.[thecardiologyadvisor.com]
  • diseases Hypoxia Musculoskeletal disorders Hypothermia Cardiothoracic surgery Increased vagal tone Valve replacement Vomiting Congenital heart disease Coughing Defecation, micturition * Most common causes.[revespcardiol.org]
Myopathy
  • Cardiomyopathy (see Non-Compaction Cardiomyopathy, [[Non-Compaction Cardiomyopathy]]) Congenital Heart Disease (see Congenital Heart Disease, [[Congenital Heart Disease]]) Endocarditis with Valve Ring Abscess (see Endocarditis, [[Endocarditis]]) Mitochondrial Myopathy[mdnxs.com]
  • Familial skeletal myopathy with atrioventricular block. Intern Med 1999;38:856–860. PubMed CrossRef Google Scholar 54. Gollob MH, Green MS, Tang AS, et al. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.[link.springer.com]
  • Autosomal dominant Description Ruiz et al. (1987) described a father and 2 sons with clinical and electrophysiological features of hereditary motor and sensory neuropathy, neuronal type, with onset in infancy, as well as histologic features of neurogenic myopathy[findzebra.com]
Dizziness
  • The case of a 22-year-old white male without known heart disease who presented with activity related lightheadedness at age 19 and dizziness and fatigue at age 21 is described.[scholars.northwestern.edu]
  • While some patients exhibit no symptoms, others experience dyspnea, lightheadedness, dizziness, abdominal pain, and syncope.[symptoma.com]
  • Abstract The case of a 22-year-old white male without known heart disease who presented with activity related lightheadedness at age 19 and dizziness and fatigue at age 21 is described.[ncbi.nlm.nih.gov]
  • In the age group of interest for this book of 11-18 years, the most common presenting issues were rhythm related (23%) and chest pain (23%), followed by syncope or dizziness (19%) and heart murmur (12%).[books.google.com]
  • Mobitz Type I patients may experience dizziness, fatigue, and intolerance to exercise due to the delay of the electrical impulses in the heart.[vacardio.com]
Dizziness
  • The case of a 22-year-old white male without known heart disease who presented with activity related lightheadedness at age 19 and dizziness and fatigue at age 21 is described.[scholars.northwestern.edu]
  • While some patients exhibit no symptoms, others experience dyspnea, lightheadedness, dizziness, abdominal pain, and syncope.[symptoma.com]
  • Abstract The case of a 22-year-old white male without known heart disease who presented with activity related lightheadedness at age 19 and dizziness and fatigue at age 21 is described.[ncbi.nlm.nih.gov]
  • In the age group of interest for this book of 11-18 years, the most common presenting issues were rhythm related (23%) and chest pain (23%), followed by syncope or dizziness (19%) and heart murmur (12%).[books.google.com]
  • Mobitz Type I patients may experience dizziness, fatigue, and intolerance to exercise due to the delay of the electrical impulses in the heart.[vacardio.com]
Convulsions
  • Most people with Lennox-Gastaut syndrome will have at least one episode of non-convulsive status epilepticus. Absence status epilepticus is more common in children, and may be difficult to recognize in children with severe developmental disability.[aboutkidshealth.ca]
  • Absence seizures do not cause convulsions and may be so mild that they go unnoticed. They usually last only a couple to several seconds.[rarediseases.org]

Workup

Patients with the symptoms described above (such as syncope) or incidental EKG findings suggestive of a cardiac conductive defect warrant a thorough evaluation. In addition to ascertaining the personal history, the workup should include a detailed family history of diseases and manifestations such as syncope or sudden death. Patients should also undergo a complete physical exam with a focus on the cardiovascular system. Finally, affected individuals should be assessed with specific studies like electrocardiogram, echocardiogram etc.

Electrocardiogram (EKG)

Findings associated with Lenegre disease include prolonged PR interval, wide QRS complexes, right and/or left bundle branch block, as well as disturbances in other conductive tissues. An exercise stress test in patients with a complete AV block may reveal arrhythmias such as ventricular tachycardia and Torsade de Pointes.

Imaging

An echocardiogram and/or cardiac magnetic resonance imaging (MRI) are performed to assess the contractile function and structure of the heart and to rule out underlying abnormalities such as cardiomyopathy and congenital heart disease [7].

Other

Genetic testing is advised in young individuals with Lenegre disease.

Prolonged QT Interval
  • QT interval or short PR interval without a Wolff-Parkinson-White (194200) pattern.[findzebra.com]
  • To date, 40–50% of the cases of prolonged QT interval are associated to mutations in KCNQ1. 58, 59 KvLQT1 forms a complex with the protein encoded by the KCNE1 gene (MinK, β-subunit of the K channel), which regulates I Kr and I Ks activity. 60, 61 Five[nature.com]
Prolonged PR Interval
  • Electrocardiogram (EKG) Findings associated with Lenegre disease include prolonged PR interval, wide QRS complexes, right and/or left bundle branch block, as well as disturbances in other conductive tissues.[symptoma.com]
  • PR interval, early repolarization pattern) 2280 (7.0) Total 3853 (11.8) RBBB, right bundle branch block; LVH, left ventricular hypertrophy; LBBB, left bundle branch block.[ 2 ] Classification of abnormalities of the athlete’s electrocardiogram Table[en.ecgpedia.org]
  • In the Framingham Heart Study, however, the presence of a prolonged PR interval or first degree AV block doubled the risk of developing atrial fibrillation (irregular heart beat), tripled the risk of requiring an artificial pacemaker, and was associated[findzebra.com]
  • Every P wave is followed by a QRS complex, but with a constantly prolonged PR interval.[revespcardiol.org]
Torsades De Pointes
  • An exercise stress test in patients with a complete AV block may reveal arrhythmias such as ventricular tachycardia and Torsade de Pointes.[symptoma.com]
  • de pointes) Brugada Syndrome Normal Prolonged 0.21s S1S2S3 pattern; (RBBB/LAD) Up-sloping coved-type in right precordial leads Inverted in right precordial leads (Polymorphic VT); (atrial fibrillation) (sinus tachycardia) Lenègre disease Normal Normal[en.ecgpedia.org]
  • "Left bundle branch block, atrioventricular block, torsade de pointes and long QT syndrome: is this too much for a rare cardiomyopathy?".[wikidoc.org]
  • Sicouri S, Glass A, Ferreiro M, Antzelevitch C Transseptal dispersion of repolarization and its role in the development of torsade de pointes arrhythmias [published online ahead of print November 10, 2010].[nature.com]
Right Bundle Branch Block
  • bundle branch block in the healthy young people [J];Chinese Journal of Cardiovascular Review;2008-08 Chinese Journal Full-text Database 2 Hits 1 Jihong Guo, Yuan Xu, Xuebin Li, Haicheng Zhang, Ping Zhang Peking University People's Hospital,100044; A[en.cnki.com.cn]
  • bundle branch block 426.50 Bundle branch block, unspecified 426.51 Right bundle branch block and left posterior fascicular block 426.52 Right bundle branch block and left anterior fascicular block 426.53 Other bilateral bundle branch block 426.54 Trifascicular[healthprovidersdata.com]
  • Pseudo right bundle branch block Brugada syndrome Arrhythmogenic right ventricular cardiomyopathy[dimasyusuf.com]
  • Complete Trifascicular Block: Right bundle branch block Left axis deviation (Left anterior fascicular block) Third degree heart block Related Topics Left bundle branch block LBBB Right Bundle Branch Block RBBB Left anterior fascicular blo c k LAFB Left[lifeinthefastlane.com]
  • Case 5 Answer Rate -about 40 Rhythm - second degree block type 2 Intervals - prolonged qrs in V2 consistent with right bundle branch block Axis - left axis deviation from anterior fascicular block Hypertrophy - none Infarct - none Clinical correlation[inside.fammed.wisc.edu]
Third Degree Atrioventricular Block
  • Degree Atrioventricular Block (Third Degree Heart Block, Complete Heart Block) (see Third Degree Atrioventricular Block, [[Third Degree Atrioventricular Block]]) Epidemiology Fibrosis/Sclerosis of the Conduction System : accounts for 50% of cases of[mdnxs.com]
  • degree atrioventricular block. a Increasing less than 100 beats/min during limited exercise test. b Not shortening with hyperventilation or limited exercise test. c A recent study suggests athletes with a QTc 500ms should be recommended not to participate[en.ecgpedia.org]
  • Intermittent third-degree atrioventricular block with asystole in a patient who was admitted due to recurrent syncopes.[revespcardiol.org]
Third Degree Atrioventricular Block
  • Degree Atrioventricular Block (Third Degree Heart Block, Complete Heart Block) (see Third Degree Atrioventricular Block, [[Third Degree Atrioventricular Block]]) Epidemiology Fibrosis/Sclerosis of the Conduction System : accounts for 50% of cases of[mdnxs.com]
  • degree atrioventricular block. a Increasing less than 100 beats/min during limited exercise test. b Not shortening with hyperventilation or limited exercise test. c A recent study suggests athletes with a QTc 500ms should be recommended not to participate[en.ecgpedia.org]
  • Intermittent third-degree atrioventricular block with asystole in a patient who was admitted due to recurrent syncopes.[revespcardiol.org]
Incomplete Right Bundle Branch Block
  • right bundle branch block in the healthy young people [J];Chinese Journal of Cardiovascular Review;2008-08 Chinese Journal Full-text Database 2 Hits 1 Jihong Guo, Yuan Xu, Xuebin Li, Haicheng Zhang, Ping Zhang Peking University People's Hospital,100044[en.cnki.com.cn]
T Wave Alternans
  • Wave Alternans Mechanisms and Implications for Prediction of Sudden Cardiac Death 394 Invasive Electrophysiologic Testing Role in Sudden Death Prediction 409 Provocative Testing in Inherited Arrhythmias 424 Novel Predictors of Sudden Cardiac Death 434[books.google.com]
  • L-type Ca2 channel mutations and T-wave alternans: a model study. Am J Physiol Heart Circ Physiol 2007; 293 : H3480–H3489. 87.[nature.com]
Myocardial Fibrosis
  • (PDF emailed within 0-6 h: 19.90) Accession: 010735179 Download citation: RIS BibTeX Text PMID: 12598077 DOI: 10.1016/s1062-1458(03)00203-4 Mouse model of SCN5A-linked hereditary Lenègre's disease: age-related conduction slowing and myocardial fibrosis[eurekamag.com]
  • Myocardial fibrosis is the most common cause. Associations: Inferior acute myocardial infarction. Sick sinus syndrome. Mobitz type II. Second-degree block plus new bundle branch or fascicular block.[patient.info]
  • Mouse model of SCN5A-linked hereditary Lenegre’s disease: Age-related conduction slowing and myocardial. fibrosis. Circulation 2005;111(14): 1738–1746. PubMed CrossRef Google Scholar 36. Herfst LJ, Potet F, Bezzina CR, et al.[link.springer.com]
Abnormal ECG
  • Comprehensively and expertly describes how to capture and interpret all normal and abnormal ECG findings in adults and children.[books.google.com]
Normal Electrocardiogram
  • Progression has been shown from a normal electrocardiogram to right bundle branch block and from the latter to complete heart block.[findzebra.com]

Treatment
  • Modalities 729 Treatment Modalities 731 Clinical Role of Antiarrhythmic Drugs in the Prevention of Sudden Death 733 Nonantiarrhythmic Drugs in Sudden Death Prevention 760 The Implantable Cardioverter Defibrillator Technical and Clinical Considerations[books.google.com]
  • […] may be initially and mostly involved,followed by the left anterior fascicle and the highly or complete atrioventricular block found in severe cases.Patients with single or double bundle branch block frequently appear asymptomatic and do not require treatment[en.cnki.com.cn]

Prognosis
  • However, pacemaker implantation improves the prognosis significantly. Patients with the symptoms described above (such as syncope) or incidental EKG findings suggestive of a cardiac conductive defect warrant a thorough evaluation.[symptoma.com]
  • Most cardiac disorders present with different symptoms and signs, require a different diagnostic and therapeutic approach, and also have a different prognosis in the elderly as compared to younger patients.[books.google.com]
  • The prognosis of Lenègre’s disease has been transformed by the development of electrical pacing.[litfl.com]
  • Prognosis of Atrioventricular Conduction Block The prognosis of patients with AV conduction disturbances depends on the site of the block, but also particularly on the concomitant or underlying heart disease.[revespcardiol.org]
  • Prognosis The mortality rate is around 5% but is only rarely directly related to the epilepsy itself. Death is usually associated with accidents or episodes of status epilepticus.[orpha.net]

Etiology
  • Etiology and pathology of bilateral bundle branch block in relation to complete heart block. Prog Cardiovasc Dis 1964; 6: 409-444 Lev M. Anatomic basis for atrioventricular block. Am J Med 1964; 37: 742-8. Perry RJ. The Lev and LeNegre Syndromes.[litfl.com]
  • Causes: Structural brain abnormalities (most common cause, 70% of cases) Genetic etiologies (de novo mutations) are expected to account for many of the currently unexplained cases[epilepsydiagnosis.org]
  • Etiologies include conduction system disease, drug effects, and myocardial ischemia. In this case the patient was admitted to the hospital with his symptomatci high degree block.[inside.fammed.wisc.edu]
  • Etiology and pathology of bilateral bundle branch block in relation to complete heart block. Prog Cardiovasc Dis 1964;6:409-444. PMID 14153648. External links[edit] Classification D ICD-9-CM: 426.0 OMIM: 113900 MeSH: C566873 DiseasesDB: 33970[en.wikipedia.org]

Epidemiology
  • In the fifth edition of Tresch and Aronow's Cardiovascular Disease in the Elderly, each chapter has been thoroughly updated to provide a comprehensive, yet accessible overview of the epidemiology, pathophysiology, evaluation, and treatment of cardiovascular[books.google.com]
  • We conclude that the time has come to relieve epidemiology of the French paradox.[epi.umn.edu]
  • : occurs in younger patients (may be hereditary) Physiology : progressive, fibrotic, sclerodegenerative disease of the conduction system Clinical : frequently associated with slow progression to complete heart block Lev’s Disease Epidemiology : occurs[mdnxs.com]
  • Summary Epidemiology Incidence is estimated at 1:1,000,000 inhabitants per year, and the estimated prevalence is 15/100,000. Lennox-Gastaut syndrome (LGS) represents 5-10% of epileptic patients, and 1-2% of all childhood epilepsies.[orpha.net]
  • Epidemiology It is impossible to give meaningful figures on incidence and prevalence. In most young people bradycardia is physiological and represents athletic training.[patient.info]
Sex distribution
Age distribution

Pathophysiology
  • In the fifth edition of Tresch and Aronow's Cardiovascular Disease in the Elderly, each chapter has been thoroughly updated to provide a comprehensive, yet accessible overview of the epidemiology, pathophysiology, evaluation, and treatment of cardiovascular[books.google.com]
  • […] disorder caused by SCN5A gene mutation leading to an autosomal dominant hereditary disease that is characterized of a higher incidence rate in males than in females,a lower age of onset(mostly 40 years) and a significant familial aggregation.This has been pathophysiologically[en.cnki.com.cn]
  • College of Cardiology 41(4): 643-652, February 19 2003 OBJECTIVES The goal of this study was to investigate the genotype-to-phenotype relationship between SCN5A gene mutation and progressive cardiac conduction defect in order to gain insights into the pathophysiologic[eurekamag.com]
  • Left Bundle Branch Block Pathophysiology Normally, the septum is activated from left to right, producing small Q waves in the lateral leads (I, aVL and V5-6) In complete LBBB, this is reversed as electrical activity first has to pass through the right[dundeemedstudentnotes.wordpress.com]
  • Pathophysiology of Bradyarrhythmias Associated With Acute Myocardial Infarction The pathophysiologic mechanisms underlying most bradyarrhythmias in myocardial infarction are: reversible ischemia, irreversible necrosis of the conduction system, or other[revespcardiol.org]

Prevention
  • […] of Sudden Death 733 Nonantiarrhythmic Drugs in Sudden Death Prevention 760 The Implantable Cardioverter Defibrillator Technical and Clinical Considerations 772 Beyond Sudden Death Prevention Minimizing Implantable Cardioverter Defibrillator Shocks and[books.google.com]
  • I was the first to propose that referees and handlers use gloves when handling boxers during fights to prevent the transmission of HIV infection.[einstein.yu.edu]
  • This may not prevent tachycardias from occurring so you may also need to take anti-arrhythmic drugs. Some people may need to have an ICD fitted instead of a pacemaker. Medication alone does not help.[c-r-y.org.uk]
  • Prevention Appropriate treatment of any underlying cause - eg, hypothyroidism. Glycopyrrolate (antimuscarinic agent) is used in anaesthesia to prevent the bradycardia induced by cholinergic drugs such as the anticholinesterases.[patient.info]
  • Since every patient is different, it is important to undergo diagnosis and, if necessary, treatment, to prevent the progression of the condition.[vacardio.com]

References

Article

  1. Lev M, Kinare SG, Pick A. The pathogenesis of atrioventricular block in coronary disease. Circulation. 1970;42(3):409-25.
  2. Lev M, Cuadros H, Milton HP. Interruption of the atrioventricular bundle with congenital atrioventricular block. Circulation. 1971;43(5):703-10.
  3. Probst V, Kyndt F, Potet F, Trochu JN, Mialet G, Demolombe S, Schott JJ, Baró I, Escande D, Le Marec H. Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenegre disease. J Am Coll Cardiol. 2003; 41(4):643–652.
  4. Schott JJ, Alshinawi C, Kyndt F, et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet. 1999; 23(1):20–21.
  5. Baruteau AE, Probst V, Abriel H. Inherited progressive cardiac conduction disorders. Curr Opin Cardiol. 2015;30(1):33-9.
  6. Lev M. The pathology of complete atrioventricular block. Prog Cardiovasc Dis. 1964;6:317-26.
  7. Bharati S, Lev M, Dhingra RC, et al. Electrophysiological and pathological correlations in two cases of chronic second degree atrioventricular block with left bundle branch block. Circulation. 1975;52(2):221-9.

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Last updated: 2019-06-28 12:13