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Cardiomyopathy is a group of primary diseases of the heart muscle. Early on there may be few or no symptoms. As the disease worsens,shortness of breath,feeling tired,and swelling of the legs may occur,due to the onset of heart failure. An irregular heart beat and fainting may occur. Those affected are at an increased risk of sudden cardiac death.
A premature ventricular contraction (PVC) is a common event where the heartbeat is initiated by Purkinje fibers in the ventricles rather than by the sinoatrial node. PVCs may cause no symptoms or may be perceived as a "skipped beat" or felt as palpitations in the chest. PVCs do not usually pose any danger.
Arrhythmogenic cardiomyopathy (ACM) is an inherited heart disease.
Hypertrophic cardiomyopathy is a condition in which muscle tissues of the heart become thickened without an obvious cause. The parts of the heart most commonly affected are the interventricular septum and the ventricles. This results in the heart being less able to pump blood effectively and also may cause electrical conduction problems. Specifically,within the bundle branches that conduct impulses through the interventricular septum and into the Purkinje fibers,as these are responsible for the depolarization of contractile cells of both ventricles.
Dilated cardiomyopathy (DCM) is a condition in which the heart becomes enlarged and cannot pump blood effectively. Symptoms vary from none to feeling tired,leg swelling,and shortness of breath. It may also result in chest pain or fainting. Complications can include heart failure,heart valve disease,or an irregular heartbeat.
Cardiomegaly is a medical condition in which the heart becomes enlarged. It is more commonly referred to simply as "having an enlarged heart". It is usually the result of underlying conditions that make the heart work harder,such as obesity,heart valve disease,high blood pressure (hypertension),and coronary artery disease. Cardiomyopathy is also associated with cardiomegaly.
Desmoplakin is a protein in humans that is encoded by the DSP gene. Desmoplakin is a critical component of desmosome structures in cardiac muscle and epidermal cells,which function to maintain the structural integrity at adjacent cell contacts. In cardiac muscle,desmoplakin is localized to intercalated discs which mechanically couple cardiac cells to function in a coordinated syncytial structure. Mutations in desmoplakin have been shown to play a role in dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy,where it may present with acute myocardial injury;striate palmoplantar keratoderma,Carvajal syndrome and paraneoplastic pemphigus.
Athletic heart syndrome (AHS) is a non-pathological condition commonly seen in sports medicine in which the human heart is enlarged,and the resting heart rate is lower than normal.
Prelamin-A/C,or lamin A/C is a protein that in humans is encoded by the LMNA gene. Lamin A/C belongs to the lamin family of proteins.
The myosin-binding protein C,cardiac-type is a protein that in humans is encoded by the MYBPC3 gene. This isoform is expressed exclusively in heart muscle during human and mouse development,and is distinct from those expressed in slow skeletal muscle (MYBPC1) and fast skeletal muscle (MYBPC2).
Desmocollin-2 is a protein that in humans is encoded by the DSC2 gene. Desmocollin-2 is a cadherin-type protein that functions to link adjacent cells together in specialized regions known as desmosomes. Desmocollin-2 is widely expressed,and is the only desmocollin isoform expressed in cardiac muscle,where it localizes to intercalated discs. Mutations in DSC2 have been causally linked to arrhythmogenic right ventricular cardiomyopathy.
Myosin heavy chain,αisoform (MHC-α) is a protein that in humans is encoded by the MYH6 gene. This isoform is distinct from the ventricular/slow myosin heavy chain isoform,MYH7,referred to as MHC-β. MHC-αisoform is expressed predominantly in human cardiac atria,exhibiting only minor expression in human cardiac ventricles. It is the major protein comprising the cardiac muscle thick filament,and functions in cardiac muscle contraction. Mutations in MYH6 have been associated with late-onset hypertrophic cardiomyopathy,atrial septal defects and sick sinus syndrome.
Plakophilin-2 is a protein that in humans is encoded by the PKP2 gene. Plakophilin 2 is expressed in skin and cardiac muscle,where it functions to link cadherins to intermediate filaments in the cytoskeleton. In cardiac muscle,plakophilin-2 is found in desmosome structures located within intercalated discs. Mutations in PKP2 have been shown to be causal in arrhythmogenic right ventricular cardiomyopathy.
Ankyrin repeat domain-containing protein 1,or Cardiac ankyrin repeat protein is a protein that in humans is encoded by the ANKRD1 gene also known as CARP. CARP is highly expressed in cardiac and skeletal muscle,and is a transcription factor involved in development and under conditions of stress. CARP has been implicated in several diseases,including dilated cardiomyopathy,hypertrophic cardiomyopathy,and several skeletal muscle myopathies.
Myozenin-2,also referred to as Calsarcin-1,is a protein that in humans is encoded by the MYOZ2 gene. The Calsarcin-1 isoform is a muscle protein expressed in cardiac muscle and slow-twitch skeletal muscle,which functions to tether calcineurin to alpha-actinin at Z-discs,and inhibit the pathological cardiac hypertrophic response. This differs from the fast-skeletal muscle isoform,calsarcin-2.
Atrial Light Chain-2 (ALC-2) also known as Myosin regulatory light chain 2,atrial isoform (MLC2a) is a protein that in humans is encoded by the MYL7 gene. ALC-2 expression is restricted to cardiac muscle atria in healthy individuals,where it functions to modulate cardiac development and contractility. In human diseases,including hypertrophic cardiomyopathy,dilated cardiomyopathy,ischemic cardiomyopathy and others,ALC-2 expression is altered.
Right atrial enlargement (RAE) is a form of cardiomegaly,or heart enlargement. It can broadly be classified as either right atrial hypertrophy (RAH),overgrowth,or dilation,like an expanding balloon. Common causes include pulmonary hypertension,which can be the primary defect leading to RAE,or pulmonary hypertension secondary to tricuspid stenosis;pulmonary stenosis or Tetralogy of Fallot i.e. congenital diseases;chronic lung disease,such as cor pulmonale. Other recognised causes are:right ventricular failure,tricuspid regurgitation,and atrial septal defect. Right atrial enlargement (RAE) is clinically significant due to its prevalence in diagnosing supraventricular arrhythmias. Further,early diagnosis using risk factors like RAE may decrease mortality because patients with RAE are at 9x more risk of arrhythmias and other cardiac conditions compared to their healthy counterparts.
Frank I. Marcus was an American cardiologist and Emeritus Professor of Medicine at the University of Arizona Health Sciences Center,the author of more than 290 publications in peer-reviewed medical journals and of 90 book chapters. He was considered a world expert on arrhythmogenic right ventricular cardiomyopathy (ARVC) and was a member of the Editorial/Scientific Board of 14 Cardiovascular Journals as well as a reviewer for 26 other medical publications.
The Association for Inherited Cardiac Conditions is the UK national professional body for experts in genetics and cardiology dealing with inherited diseases of the heart. These include heart muscle diseases such as hypertrophic cardiomyopathy,dilated cardiomyopathy,noncompaction cardiomyopathy,and arrhythmogenic cardiomyopathy,as well as inherited arrhythmia disorders such as long QT syndrome,Brugada syndrome,and catecholaminergic polymorphic ventricular tachycardia (CPVT). The AICC also represents experts in aortic disease such as Marfan syndrome and other systemic diseases which affect the heart or circulation.
Jeffery Daniel Molkentin is an American molecular biologist. He is the director of Molecular Cardiovascular Biology for Cincinnati Children's hospital where he is also co-director of their Heart Institute. Molkentin holds a professorship at the University of Cincinnati's Department of Pediatrics.
References
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- ↑ Marian, A. J.; Yu, Q. T.; Mares, A.; Hill, R.; Roberts, R.; Perryman, M. B. (December 21, 1992). "Detection of a new mutation in the beta-myosin heavy chain gene in an individual with hypertrophic cardiomyopathy". The Journal of Clinical Investigation. 90 (6): 2156–2165. doi:10.1172/JCI116101. PMC 443366 . PMID 1361491.
- ↑ Lim, D. S.; Lutucuta, S.; Bachireddy, P.; Youker, K.; Evans, A.; Entman, M.; Roberts, R.; Marian, A. J. (February 13, 2001). "Angiotensin II blockade reverses myocardial fibrosis in a transgenic mouse model of human hypertrophic cardiomyopathy". Circulation. 103 (6): 789–791. doi:10.1161/01.cir.103.6.789. PMC 2779524 . PMID 11171784.
- ↑ Patel, R.; Nagueh, S. F.; Tsybouleva, N.; Abdellatif, M.; Lutucuta, S.; Kopelen, H. A.; Quinones, M. A.; Zoghbi, W. A.; Entman, M. L.; Roberts, R.; Marian, A. J. (2001). "Simvastatin induces regression of cardiac hypertrophy and fibrosis and improves cardiac function in a transgenic rabbit model of human hypertrophic cardiomyopathy". Circulation. 104 (3): 317–324. doi:10.1161/hc2801.094031. PMC 2768618 . PMID 11457751.
- ↑ Garcia-Gras, Eduardo; Lombardi, Raffaella; Giocondo, Michael J.; Willerson, James T.; Schneider, Michael D.; Khoury, Dirar S.; Marian, Ali J. (July 21, 2006). "Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy". The Journal of Clinical Investigation. 116 (7): 2012–2021. doi:10.1172/JCI27751. PMC 1483165 . PMID 16823493.
- ↑ Chen, Suet Nee; Gurha, Priyatansh; Lombardi, Raffaella; Ruggiero, Alessandra; Willerson, James T.; Marian, A. J. (January 31, 2014). "The hippo pathway is activated and is a causal mechanism for adipogenesis in arrhythmogenic cardiomyopathy". Circulation Research. 114 (3): 454–468. doi:10.1161/CIRCRESAHA.114.302810. PMC 3946717 . PMID 24276085.
- ↑ Auguste, Gaelle; Rouhi, Leila; Matkovich, Scot J.; Coarfa, Cristian; Robertson, Matthew J.; Czernuszewicz, Grazyna; Gurha, Priyatansh; Marian, Ali J. (September 1, 2020). "BET bromodomain inhibition attenuates cardiac phenotype in myocyte-specific lamin A/C-deficient mice". The Journal of Clinical Investigation. 130 (9): 4740–4758. doi:10.1172/JCI135922. PMC 7456228 . PMID 32484798.
- 1 2 Cathcart, Benjamin; Cheedipudi, Sirisha M.; Rouhi, Leila; Zhao, Zhongming; Gurha, Priyatansh; Marian, Ali J. (April 5, 2024). "DNA double-stranded breaks, a hallmark of aging, defined at the nucleotide resolution, are increased and associated with transcription in the cardiac myocytes in LMNA-cardiomyopathy". Cardiovascular Research: cvae063. doi:10.1093/cvr/cvae063. PMID 38577741 – via PubMed.
- ↑ Sn, Chen; R, Lombardi; J, Karmouch; Jy, Tsai; G, Czernuszewicz; Mrg, Taylor; L, Mestroni; C, Coarfa; P, Gurha; Aj, Marian (March 15, 2019). "DNA Damage Response/TP53 Pathway Is Activated and Contributes to the Pathogenesis of Dilated Cardiomyopathy Associated With LMNA (Lamin A/C) Mutations". Circulation Research. 124 (6): 856–873. doi:10.1161/CIRCRESAHA.118.314238. PMC 6460911 . PMID 30696354.
- ↑ Sm, Cheedipudi; Sj, Matkovich; C, Coarfa; X, Hu; Mj, Robertson; M, Sweet; M, Taylor; L, Mestroni; J, Cleveland; Jt, Willerson; P, Gurha; Aj, Marian (April 12, 2019). "Genomic Reorganization of Lamin-Associated Domains in Cardiac Myocytes Is Associated With Differential Gene Expression and DNA Methylation in Human Dilated Cardiomyopathy". Circulation Research. 124 (8): 1198–1213. doi:10.1161/CIRCRESAHA.118.314177. PMC 6459729 . PMID 30739589.
- ↑ "Editorial Board | The Journal of Cardiovascular Aging - OAE". www.oaepublish.com.
- ↑ "Yearly Archive". February 17, 2017.
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