Progressive familial heart block
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
Progressive familial heart block is a genetic condition that alters the normal beating of the heart. A normal heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. These signals begin in a specialized cluster of cells called the sinoatrial node (the heart's natural pacemaker) located in the heart's upper chambers (the atria). From there, a group of cells called the atrioventricular node carries the electrical signals to another cluster of cells called the bundle of His. This bundle separates into multiple thin spindles called bundle branches, which carry electrical signals into the heart's lower chambers (the ventricles). Electrical impulses move from the sinoatrial node down to the bundle branches, stimulating a normal heartbeat in which the ventricles contract slightly later than the atria.
Descrizione
Progressive familial heart block is a genetic condition that alters the normal beating of the heart. A normal heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. These signals begin in a specialized cluster of cells called the sinoatrial node (the heart's natural pacemaker) located in the heart's upper chambers (the atria). From there, a group of cells called the atrioventricular node carries the electrical signals to another cluster of cells called the bundle of His. This bundle separates into multiple thin spindles called bundle branches, which carry electrical signals into the heart's lower chambers (the ventricles). Electrical impulses move from the sinoatrial node down to the bundle branches, stimulating a normal heartbeat in which the ventricles contract slightly later than the atria.
Heart block occurs when the electrical signaling is obstructed anywhere from the atria to the ventricles. In people with progressive familial heart block, the condition worsens over time: early in the disorder, the electrical signals are partially blocked, but the block eventually becomes complete, preventing any signals from passing through the heart. Partial heart block causes a slow or irregular heartbeat (bradycardia or arrhythmia, respectively), and can lead to the buildup of scar tissue (fibrosis) in the cells that carry electrical impulses. Fibrosis contributes to the development of complete heart block, resulting in uncoordinated electrical signaling between the atria and the ventricles and inefficient pumping of blood in the heart. 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.
Progressive familial heart block can be divided into type I and type II, with type I being further divided into types IA and IB. These types differ in where in the heart signaling is interrupted and the genetic cause. In types IA and IB, the heart block originates in the bundle branch, and in type II, the heart block originates in the atrioventricular node. The different types of progressive familial heart block have similar signs and symptoms.
Most cases of heart block are not genetic and are not considered progressive familial heart block. The most common cause of heart block is fibrosis of the heart, which occurs as a normal process of aging. Other causes of heart block can include the use of certain medications or an infection of the heart tissue.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
Blocco di branca
HBBD
Hereditary bundle branch defect
Hereditary bundle branch system defect
Lenegre Lev disease
Lev syndrome
Lev's disease
Lev-Lenègre disease
PCCD
Progressive cardiac conduction defect
Related patient information and medicines
Patient information leaflet
Cardiomiopatia dilatativa
Dilated cardiomyopathy is a condition where the heart muscle becomes stretched and thin. These changes often start in the left ventricle (the part of the heart which pumps blood around most of the body), and can then later affect the right ventricle (which pumps blood to the lungs) and the atria (the parts of the heart that rec... About one in.
Patient information leaflet
Attacco di cuore
A heart attack (myocardial infarction) is usually caused by a blood clot, which stops the blood flowing to a part of your heart muscle. You should call for an ambulance immediately if you develop severe chest pain. This is calculated using a calculation called QRISK, which takes into account the... Family history. Your risk is increased if there.
Patient information leaflet
Malattie cardiovascolari
Cardiovascular diseases (CVD) is a general term to describe diseases of the heart or blood vessels. The cause of most cardiovascular disease is a build-up of atheroma - a fatty deposit within the inside lining of arteries. The blood flow to the heart muscle may also be restricted by a blood clot in an artery taking blood to the heart muscle.
Patient information leaflet
Ritmi cardiaci anomali
An arrhythmia is an abnormal rate and/or rhythm of the heartbeat due to some problem with the electrical conducting system of the heart. What is an arrhythmia. An arrhythmia is an abnormal rate and/or rhythm of the heartbeat. There are various types but all are due to some problem with the electrical conducting system of the heart. Some.
Patient information leaflet
Cardiopatia congenita
Cardiopatia congenita is a condition where an abnormality (defect) develops in the heart before birth. There are a number of types of congenital heart defect. If you or your child have a congenital heart defect, your heart specialists... The British Heart Foundation also has a series of leaflets about many of the more common congenital heart.
Patient information leaflet
Sindrome di Wolff-Parkinson-White
Wolff-Parkinson-White syndrome is not common but can cause a fast heart rate or other heart rhythm abnormalities from time to time. Treatment can be given for the fast heart rate and also to prevent any further episodes. What is Wolff-Parkinson-White syndrome. In Wolff-Parkinson-White (WPW) syndrome there is an extra connection (an accessory.
Ulteriori letture e riferimenti
- Progressive familial heart block; MedlinePlus, National Library of Medicine.
- Barra SN, Providencia R, Paiva L, Nascimento J, Marques AL. A review on advanced atrioventricular block in young or middle-aged adults. Pacing Clin Electrophysiol. 2012 Nov;35(11):1395-405. doi: 10.1111/j.1540-8159.2012.03489.x. Epub 2012 Aug 16.
- Fernandez P, Corfield VA, Brink PA. Progressive familial heart block type II (PFHBII): a clinical profile from 1977 to 2003. Cardiovasc J S Afr. 2004 May-Jun;15(3):129-32.
- Fernandez P, Moolman-Smook J, Brink P, Corfield V. A gene locus for progressive familial heart block type II (PFHBII) maps to chromosome 1q32.2-q32.3. Hum Genet. 2005 Oct;118(1):133-7. doi: 10.1007/s00439-005-0029-5. Epub 2005 Oct 28.
- Kruse M, Schulze-Bahr E, Corfield V, Beckmann A, Stallmeyer B, Kurtbay G, Ohmert I, Schulze-Bahr E, Brink P, Pongs O. Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I. J Clin Invest. 2009 Sep;119(9):2737-44. doi: 10.1172/JCI38292. Epub 2009 Aug 24.
- Lee CK, Shin DH, Jang JK, Jang KH, Kim EK, Cheong SS, Yoo SY. Progressive familial heart block type I in a korean patient. Korean Circ J. 2011 May;41(5):276-9. doi: 10.4070/kcj.2011.41.5.276. Epub 2011 May 31.
- Makita N, Seki A, Sumitomo N, Chkourko H, Fukuhara S, Watanabe H, Shimizu W, Bezzina CR, Hasdemir C, Mugishima H, Makiyama T, Baruteau A, Baron E, Horie M, Hagiwara N, Wilde AA, Probst V, Le Marec H, Roden DM, Mochizuki N, Schott JJ, Delmar M. A connexin40 mutation associated with a malignant variant of progressive familial heart block type I. Circ Arrhythm Electrophysiol. 2012 Feb;5(1):163-72. doi: 10.1161/CIRCEP.111.967604. Epub 2012 Jan 13.
- Probst V, Allouis M, Sacher F, Pattier S, Babuty D, Mabo P, Mansourati J, Victor J, Nguyen JM, Schott JJ, Boisseau P, Escande D, Le Marec H. Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation. J Cardiovasc Electrophysiol. 2006 Mar;17(3):270-5. doi: 10.1111/j.1540-8167.2006.00349.x.
- Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, Wilde AA, Escande D, Mannens MM, Le Marec H. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet. 1999 Sep;23(1):20-1. doi: 10.1038/12618. No abstract available.
- Van der Merwe PL, Weymar HW, Torrington M, Brink AJ. Progressive familial heart block (type I). A follow-up study after 10 years. S Afr Med J. 1988 Mar 5;73(5):275-6.
- Watanabe H, Koopmann TT, Le Scouarnec S, Yang T, Ingram CR, Schott JJ, Demolombe S, Probst V, Anselme F, Escande D, Wiesfeld AC, Pfeufer A, Kaab S, Wichmann HE, Hasdemir C, Aizawa Y, Wilde AA, Roden DM, Bezzina CR. Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest. 2008 Jun;118(6):2260-8. doi: 10.1172/JCI33891.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.