Edit concept Question Editor Create issue ticket

Familial Atrial Fibrillation Type 12

ATFB12


Presentation

  • Cardiomyopathy can also be a presenting feature of other inherited disorders, such as Danon disease, Fabry disease, mitochondrial myopathy, or muscular dystrophy.[centogene.com]
  • However, in reality, although more than half of the patients included were over 50 years old, they probably presented low risk of embolism.[revespcardiol.org]
  • The pseudo-ECG presented in Fig. 5 B shows the spontaneous initiation of arrhythmia at 2,600 ms.[pnas.org]
  • Patients may present initially with a transient ischemic attack (TIA) or ischemic stroke. Most patients experience asymptomatic episodes of arrhythmias before being diagnosed.[physio-pedia.com]
  • […] by , last update September 28, 2018 aka ECG Exigency 009 An 18-year old female presents to ED with sudden onset of rapid, irregular palpitations and is found to be in fast atrial fibrillation.[lifeinthefastlane.com]
Italian
  • Japanese シンボウサイドウ, 心房細動, 心房性細動 Finnish Eteisvärinä Russian USHKA PREDSERDIIA FIBRILLIATSIIA, PREDSERDII FIBRILLIATSIIA, ПРЕДСЕРДИЙ ФИБРИЛЛЯЦИЯ, УШКА ПРЕДСЕРДИЯ ФИБРИЛЛЯЦИЯ Czech Fibrilace ouška, Fibrilace síní, fibrilace síní, síňová fibrilace, FiS Italian[fpnotebook.com]
  • […] disease-2 104310 107741 Autosomal dominant APOE 19q13.32 Hyperlipoproteinemia, type III 617347 107741 APOPT1 14q32.33 Mitochondrial complex IV deficiency 220110 616003 Mitochondrial; Autosomal recessive APP 21q21.3 Cerebral amyloid angiopathy, Dutch, Italian[mnglabs.com]
Thrombosis
  • Real clinical practice of catheter therapy for deep venous thrombosis: periprocedural and 6-month outcomes from the EDO registry.[twmu-cardiology.jp]
  • VIDEO 2: Atrial Fibrillation-Clot Formation & Stroke Risks ; Animation showing how A-Fib clots can form and travel to the brain causing an ischemic stroke. (1:39) Uploaded to YouTube on Jan 4, 2012 by Thrombosis Adviser.[a-fib.com]
  • Juvenile myelomonocytic leukemia 607785 165360 Autosomal dominant; Somatic mutation CBS 21q22.3 Thrombosis, hyperhomocysteinemic 236200 613381 Autosomal recessive CC2D1A 19p13.12 Mental retardation, autosomal recessive 3 608443 610055 Autosomal recessive[mnglabs.com]
Dysautonomia
  • 147370 Autosomal dominant; Autosomal recessive IGHMBP2 11q13.3 Charcot-Marie-Tooth disease, axonal, type 2S 616155 600502 Autosomal recessive IGHMBP2 11q13.3 Neuronopathy, distal hereditary motor, type VI 604320 600502 Autosomal recessive IKBKAP 9q31.3 Dysautonomia[mnglabs.com]
Intracranial Hemorrhage
  • ., head injuries, intracranial hemorrhage); urinary sodium 20 mEq per L Isotonic or hypertonic saline Diuretic use Clinical; urinary sodium 20 mEq per L Stop diuretic therapy Gastrointestinal loss (e.g., diarrhea, vomiting) Clinical; urinary sodium 20[aafp.org]

Workup

  • The diagnostic workup should include a history and physical examination with specific attention to cardiac, cancer, pulmonary, surgical, endocrine, gastrointestinal, neurologic, and renal histories ( Table 1 ). 11 – 13 Diuretics, carbamazepine (Tegretol[aafp.org]
Hepatocellular Carcinoma
  • carcinoma, somatic 114550 116806 CTNNB1 3p22.1 Medulloblastoma, somatic 155255 116806 CTNNB1 3p22.1 Exudative vitreoretinopathy 7 617572 116806 CTNS 17p13.2 Cystinosis, late-onset juvenile or adolescent nephropathic 219900 606272 Autosomal recessive[mnglabs.com]

Treatment

  • The final section exclusively addresses the management of cardiovascular genetic disorders, specifically considering stem cell therapy, genetic counseling, pharmacogenomics and the social and ethical issues surrounding disease treatment.[books.google.com]
  • Clinical Management 293 Cellular Pharmacology of Cardiac Automaticity and Conduction Implications in Antiarrhythmic Drug Assessment 305 Biophysical and Molecular Targets 334 Proarrhythmia Secondary 345 Connexin43 Expression A Therapeutic Target for the Treatment[books.google.de]
  • Enlarge Print Treatment of Severe Symptomatic Hyponatremia Figure 2. Algorithm for the treatment of severe symptomatic hyponatremia. Information from references 13, 14, and 20 through 23. Treatment of Severe Symptomatic Hyponatremia Figure 2.[aafp.org]
  • See Treatments/Cox Maze and Mini-Maze operations. Typical Mini-Maze incisions for surgical ablation of Atrial Fibrillation For a more thorough discussion of the various treatments for A-Fib, see Treatments.[a-fib.com]

Prognosis

  • Abstract Atrial fibrillation (AF) is the most common sustained arrhythmia with poor prognosis, reaching epidemic proportions in the ageing population.[els.net]
  • An earlier onset and longer duration of AF might also promote a so‐called cardiomyopathy in some patients, which may worsen prognosis.[jaha.ahajournals.org]
  • Incidence, clinical implications and prognosis of atrial arrhythmias in Brugada syndrome. Eur Heart J. 2004;25:879-84. 11. Olson TM et al.[ipej.org]
  • Prevalence, incidence, prognosis, and predisposing conditions for atrial fibrillation: population-based estimates. Am J Cardiol. 1998;82(8A):2N–9N. pmid:9809895. View Article PubMed/NCBI Google Scholar 4.[journals.plos.org]
  • Wiesfeld sabelle C. van Gelder Abstract Atrial fibrillation (AF), the most common arrhythmia, is associated with an unfavorable prognosis. 1 , 2 The majority of patients have AF in association with underlying (cardiac) diseases. 3 In 15–30% of the patients[link.springer.com]

Etiology

  • Enormous progress has been made in the identification of genes involved in the etiology of inherited cardiovascular diseases.[centogene.com]
  • See all Hide authors and affiliations Science 10 Jan 2003: Vol. 299, Issue 5604, pp. 251-254 DOI: 10.1126/science.1077771 Abstract Atrial fibrillation (AF) is a common cardiac arrhythmia whose molecular etiology is poorly understood.[science.sciencemag.org]
  • Planas et al 1 define primary atrial fibrillation as that produced in the absence of structural or functional heart disease or any other known etiological factor.[revespcardiol.org]
  • However, familial AF may help to identify the etiology for strokes, more likely to be caused by thromboembolism from AF.[jaha.ahajournals.org]
  • Potential etiologies also include restrictive cardiomyopathies (e.g., amyloidosis, hemochromatosis, and endomyocardial fibrosis), cardiac tumours, and constrictive pericarditis.[physio-pedia.com]

Epidemiology

  • Epidemiology and Demographics Atrial fibrillation is the most common type of sustained abnormal heart rhythm ( arrhythmia ), affecting more than 3 million people in the United States.[wikidoc.org]
  • Further Reading Chugh SS, Blackshear JL, Shen WK et al. (2001) Epidemiology and natural history of atrial fibrillation: clinical implications. Journal of the American College of Cardiology 37: 371–378.[els.net]
  • Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium: Design of prospective meta-analyses of genome-wide association studies from 5 cohorts.[journals.plos.org]
  • Until recently, in epidemiological and even pharmacological studies, patients with atrial flutter and fibrillation were grouped under a single umbrella. Fortunately, we now know that it is necessary to separate the two.[revespcardiol.org]
Sex distribution
Age distribution

Pathophysiology

  • Acceptance of permanent AF represents a therapeutic attitude on the part of the patient and clinician rather than an inherent pathophysiological attribute of AF.[physio-pedia.com]
  • Despite the correlation between these pathophysiological mechanisms and functional alterations, many questions remain unanswered; for example, why mutations that appear to be associated with gain of function at the atrial level leave ventricular repolarization[jci.org]
  • Plasma osmolality plays a critical role in the pathophysiology and treatment of sodium disorders. Hyponatremia and hypernatremia are classified based on volume status (hypovolemia, euvolemia, and hypervolemia).[aafp.org]
  • Mahida S, Lubitz SA, Rienstra M et al. (2011) Monogenic atrial fibrillation as pathophysiological paradigms. Cardiovascular Research 89: 692–700. McNair WP, Ku L, Taylor MR et al. (2004) Familial Cardiomyopathy Registry Research Group.[els.net]

Prevention

  • Researchers hope this discovery will lead to better understanding of the disease and, eventually, better ways to predict, prevent and treat the heart rhythm problem.[sciencedaily.com]
  • The role of fish oil in arrhythmia prevention. J Cardiopulm Rehabil Prev. 2008;28(2):92-98. 27. Heidt MC, Vician M, Stracke SK, et al.[ndnr.com]
  • Measures to prevent inappropriate ICD shocks due to AF are dual chamber ICDs and rate lowering drugs [9].[ipej.org]
  • Preventing Atrial Fibrillation Knowing your own personal atrial fibrillation risk factors — and changing those that are within your control — can help keep your heart beating strong, regardless of your family history.[everydayhealth.com]
  • Early diagnosis is relevant for timely treatment and prevention of fatal complications such as arterial dissection/rupture. Congenital heart diseases (CHD) account for 1% of all live births per year and the prevalence is increasing.[centogene.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!