Rare Pediatrics News

Disease Profile

Familial atrial fibrillation

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

-

ICD-10

I48.9

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Atrial fibrillation autosomal dominant; Autosomal dominant atrial fibrillation; Atrial fibrillation, familial;

Categories

Congenital and Genetic Diseases; Heart Diseases

Summary

Familial atrial fibrillation is an inherited heart condition that disrupts the heart's rhythm. It is characterized by erratic electrical activity in the heart's upper chambers (the atria), causing an irregular response in the heart's lower chambers (the ventricles). This causes a fast and irregular heartbeat (arrhythmia). Signs and symptoms may include dizziness, chest pain, palpitations, shortness of breath, or fainting. Affected people also have an increased risk of stroke and sudden death. While complications may occur at any age, some affected people never have associated health problems.[1] Familial atrial fibrillation may be caused by changes (mutations) in any of various genes, some of which have not been identified. It is most often inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported.[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Thromboembolic stroke
0001727
Percent of people who have these symptoms is not available through HPO
Atrial fibrillation
Quivering upper heart chambers resulting in irregular heartbeat
0005110
Autosomal dominant inheritance
0000006
Stroke
0001297
Tachycardia
Fast heart rate
Heart racing
Racing heart

[ more ]

0001649

Treatment

We are unaware of treatment recommendations specific to familial atrial fibrillation, but there is information available about treatment for atrial fibrillation in general.

Treatment for atrial fibrillation depends on the frequency and severity of symptoms and may involve medications, medical procedures, and lifestyle changes. People who don't have symptoms or related heart problems may not need treatment. The main goals of treatment include:[3]

  • Preventing blot clots and lowering risk of stroke. This may involve blood-thinning medications such as warfarin, dabigatran, heparin, and aspirin.
  • Controlling the rate of contractions of the ventricles (rate control). This may involve medications to restore the heart rate to a normal level, such as beta blockers, calcium channel blockers, and digitalis.
  • Restoring a normal heart rhythm (rhythm control). This is typically for people who don't do well with rate control treatment, or for people who recently began having symptoms. Rhythm control may involve medications or procedures and is usually begun in a hospital for monitoring. Procedures may include cardioversion, catheter ablation, or maze surgery.[3]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • MedlinePlus Genetics contains information on Familial atrial fibrillation. This website is maintained by the National Library of Medicine.
      • The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial atrial fibrillation. Click on the link to view a sample search on this topic.

          References

          1. Familial atrial fibrillation. Genetics Home Reference. January, 2007; https://ghr.nlm.nih.gov/condition/familial-atrial-fibrillation.
          2. Oscar Campuzano and Ramon Brugada. Genetics of familial atrial fibrillation. Europace. October, 2009; 11(10):1267-1271.
          3. How is atrial fibrillation treated?. NHLBI. September, 2014; https://www.nhlbi.nih.gov/health/health-topics/topics/af/treatment.
          4. FAQs of Atrial Fibrillation (AFib or AF). American Heart Association. 2014; https://www.heart.org/idc/groups/heart-public/@wcm/@hcm/documents/downloadable/ucm_424424.pdf.
          5. Fred F. Ferri. Atrial Fibrillation. Ferri's Clinical Advisor 2016. Elsevier, Inc; 2016; 167-170.
          6. CECILIA GUTIERREZ and DANIEL G. BLANCHAR. Atrial Fibrillation: Diagnosis and Treatment. Am Fam Physician. January, 2011; 83(1):61-68.
          7. Ramin Davoudi. Atrial Fibrillation. First Consult. July 29, 2012;
          8. Ri-Tai Huang, Song Xue, Ying-Jia Xu, Min Zhou, Yi-Qing Yang. A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation. International Journal of Molecular Medicine. May, 2013; 31(5):

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