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Dilated Cardiomyopathy Type 2B

Idiopathic Dilated Cardiomyopathy


Presentation

  • The latter is of particular interest in the present context.[books.google.com]
  • Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises 299 Million January 23, 2019 By Daniel S.[globalgenes.org]
  • Acronym CMD2B Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Presentation usually occurs late in the disease course with any one of the following: Heart failure, characterized by symptoms that include edema, orthopnea, paroxysmal nocturnal dyspnea, fatigue and dyspnea on exertion Arrhythmias and/or conduction system[centogene.com]
Osteoporosis
  • Osteogenesis imperfecta Osteogenesis imperfecta type I Osteogenesis imperfecta type III Osteogenesis imperfecta type III Osteogenesis imperfecta with normal sclerae, dominant form Osteogenesis imperfecta, recessive perinatal lethal Osteoglophonic dysplasia Osteoporosis[pentacorelab.hu]
  • 2 Osteoporosis With Pseudoglioma 1 Oto-Palato-Digital Syndrome Type 1 4 Oto-Palato-Digital Syndrome, Type II 3 Otospondylomegaepiphyseal Dysplasia 4 Ovalocytosis 1 Ovarian Dysgenesis 1 4 Ovarian Dysgenesis 2 4 Ovarian Dysgenesis 3 1 Ovarian Dysgenesis[preventiongenetics.com]
  • […] association with} 125853 606201 Autosomal dominant WNK1 12p13.33 Pseudohypoaldosteronism, type IIC 614492 605232 Autosomal dominant WNK1 12p13.33 Neuropathy, hereditary sensory and autonomic, type II 201300 605232 Autosomal recessive WNT1 12q13.12 {Osteoporosis[mnglabs.com]
Convulsions
  • […] autosomal dominant 4 604983 MITO Mitochondrial Genome sequence panel PPT1 Ceroid lipofuscinosis, neuronal, 1 256730 LSD Lysosomal Storage Disorder PRICKLE2 myoclonic epilepsy 608501 EPI Epilepsy Panel PRPS1 CMTX5 311070 CMT Charcot-Marie-Tooth PRRT2 Convulsions[lhsc.on.ca]
  • IFITMD1; PKC The PRRT2 gene is associated with a spectrum of related autosomal dominant neurological conditions (MedGen UID: 358268) including episodic kinesigenic dyskinesia 1 (EKD1), benign familial infantile seizures 2 (BFIS2), and familial infantile convulsions[invitae.com]
  • Mental Retardation) Type 5B 3 Congenital Myasthenic Syndrome - RAPSN 2 Congenital Myasthenic Syndrome, Acetazolamide-Responsive 3 Congenital Myotonia, Autosomal Dominant Form 1 Congenital Stromal Corneal Dystrophy 1 Conotruncal Heart Malformations 4 Convulsions[preventiongenetics.com]
  • Charcot-Marie-Tooth disease, X-linked recessive, 5 311070 311850 X-linked recessive PRRT2 16p11.2 Episodic kinesigenic dyskinesia 1 128200 614386 Autosomal dominant PRRT2 16p11.2 Seizures, benign familial infantile, 2 605751 614386 Autosomal dominant PRRT2 16p11.2 Convulsions[mnglabs.com]

Treatment

  • The results of the studies presented in this volume now pave the way for much future research into the pathogenesis of this group of fascinating conditions, leading one day to their treatment. References: 1. Winder SJ, ed.[books.google.com]
  • Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground.[globalgenes.org]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Screening Visit 1 should be scheduled at least 12 months after prior autologous cell treatment. Other: 25.[healthcare.utah.edu]

Prognosis

  • HFpEF With Severe Pulmonary Hypertension Linked to Increased Mortality Patients with heart failure, severe pulmonary hypertension, and a preserved ejection fraction of 50% had a worse prognosis when compared with other patients with heart failure and[thecardiologyadvisor.com]
  • Amrinone ( INN ) or inamrinone ( USAN, changed in 2000 to prevent confusion with amiodarone [1] ), trade name Inocor, is a pyridine phosphodiesterase 3 inhibitor. [2] It is a drug that may improve the prognosis in patients with congestive heart failure[en.wikipedia.org]
  • […] idiopathic DCM population or the PLN p.Arg14del in up to 15% of Dutch idiopathic DCM patients. 11, 12 Several studies have reported that DCM patients carrying more than one disease-associated mutation have an early onset, severe disease expression and a bad prognosis[nature.com]

Etiology

  • […] mercaptopurine 6-MP 6MP toxicity 6-thioguanine 6-TG 6TG AZA toxicity Azathioprine S-adenosyl-L-methionine genotype Thioguanine Thiopurine S-Methyltransferase genotype Thiopurine TPMT mutation TPMT gene TPMT genetics 0030133 Thrombotic Risk, Inherited Etiologies[aruplab.com]
  • The combination of these findings is consistent with our previous observations and those of others demonstrating a link between myocardial fibrosis and diastolic dysfunction irrespective of etiology[ 38 , 39 ].[jcmr-online.biomedcentral.com]

Epidemiology

  • […] girdle muscular dystrophy type 2A Synonym(s): - LGMD2B - Limb-girdle muscular dystrophy due to dysferlin deficiency Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological[csbg.cnb.csic.es]
  • Relevant External Links for GATAD1 Genetic Association Database (GAD) GATAD1 Human Genome Epidemiology (HuGE) Navigator GATAD1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: GATAD1 No data available for Genatlas for GATAD1 Gene Homozygosity[genecards.org]
  • […] that these numbers are likely to underestimate the condition significantly. 7 No additional, up-to-date epidemiological studies are available. 1.9 Diagnostic setting Comment: The most frequently mutated DCM genes are TTN, LMNA, MYH7 and TNNT2.[nature.com]
  • Molecular epidemiology of cassava mosaic disease in Madagascar. Plant Pathol. 64(3):501-507.[academicjournals.org]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiology may be separated into two categories: defects in force generation and defects in force transmission. In cases where an underlying pathology cannot be identified, the patient is diagnosed with an idiopathic DCM.[software.broadinstitute.org]
  • Defining the functional effects of TTN truncating mutations should improve our understanding of the pathophysiology of dilated cardiomyopathy. (Funded by the Howard Hughes Medical Institute and others.)[nejm.org]

Prevention

  • Nemours Cardiac Center at Nemours/Alfred I. duPont Hospital for Children 1600 Rockland Road, Wilmington, DE 19803 Get Map & Directions » Children’s heart conditions can’t be prevented, but a lot can be done to improve their hearts at any age.[nemours.org]
  • A randomized study of the prevention of sudden death in patients with coronary artery disease. ‎[books.google.es]
  • Other interventions include arrhythmia management using device therapy and sudden death prevention. Patients who are refractory to medical therapy might benefit from mechanical circulatory support and heart transplantation.[centogene.com]
  • Understand Your Risk for Cardiomyopathy Symptoms and Diagnosis of Cardiomyopathy Prevention and Treatment of Cardiomyopathy Cardiomyopathy in Children Learn more: Family History and Heart Disease Alcohol and Heart Disease Cocaine, Marijuana and Other[heart.org]
  • Next, test anyways to prevent any catastrophic problems. The worst thing you can do is accidentally cause a short.[instructables.com]

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