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Dilated Cardiomyopathy Type 2B
CMD2B

Presentation

The latter is of particular interest in the present context. [books.google.com]

Family history should be reviewed in all patients with DCM, especially in those patients who present before the age of 60. [gwumc.edu]

Acronym CMD2B Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

[citation needed] Pulmonary embolism[edit] Pulmonary embolism classically presents with an acute onset of shortness of breath.[2] Other presenting symptoms include pleuritic chest pain, cough, hemoptysis, and fever.[2] Risk factors include deep vein thrombosis [en.wikipedia.org]

Entire Body System

  • Pain

    In most cases of ischemia, this temporary blood shortage to the heart causes pain in the chest (called angina pectoris). In certain other cases, there is no pain (called silent ischemia). [texasheart.org]

    These are the most common symptoms of DCM: Pale or gray skin color Cool, sweaty skin Rapid heart rate Rapid breathing rate Shortness of breath Tiredness (fatigue) Irritability Chest pain Loss of appetite Slow growth Your child's healthcare provider may [stanfordchildrens.org]

    Get immediate medical help if you experience chest pain, fainting or difficulty breathing. Treatment The goal of cardiomyopathy treatment is to reduce your symptoms. [heartandstroke.ca]

    Call 911 or your local emergency number if you feel chest pain that lasts more than a few minutes or have severe difficulty breathing. [mayoclinic.org]

    Get emergency medical help right away if you have chest pain, palpitations or fainting. Cardiomyopathy - dilated; Primary cardiomyopathy; Diabetic cardiomyopathy; Idiopathic cardiomyopathy; Alcoholic cardiomyopathy Falk RH, Hershberger RE. [medlineplus.gov]

  • Inflammation

    Many secondary causes, such as a heart attack, can lead to inflammation of the myocardium and therefore the diagnosis of myocarditis cannot be made by evidence of inflammation of the myocardium alone.[19][20] Myocardial inflammation can be suspected on [en.wikipedia.org]

    Problems that may occur with DCM include: Heart rhythm problems Blood clots Heart failure Leaky mitral valve (mitral valve regurgitation) Infections lead to inflammation of the heart muscle (myocarditis). The infections are often from viruses. [stanfordchildrens.org]

    […] years Use of cocaine, amphetamines or anabolic steroids Use of some chemotherapy drugs and radiation to treat cancer Certain infections, especially those that inflame the heart Iron buildup in your heart muscle (hemochromatosis) A condition that causes inflammation [mayoclinic.org]

    Dilated cardiomyopathy due to inflammation and sub-sequent autoimmunisation is probably more common than was previously thought. [escardio.org]

    Heart muscle inflammation leading to dilated cardiomyopathy occurs very rarely. It is not known how or why pregnancy triggers this to occur. This is called peripartum cardiomyopathy. Other diseases. [patient.info]

  • Weakness

    Weakness of the neck flexors is seen in most affected individuals and mild facial weakness is often present. After distal weakness has been present for more than ten years, mild proximal weakness may be observed. Life expectancy is normal. [ncbi.nlm.nih.gov]

    This causes the heart to become weak. It can't pump well. [stanfordchildrens.org]

    Common symptoms are: Chest pain or pressure (more likely with exercise) Cough Fatigue, weakness, faintness Irregular or rapid pulse Loss of appetite Shortness of breath with activity or after lying down (or being asleep) for a while Swelling of feet and [medlineplus.gov]

    When your heart muscle is weak, it can't pump out blood as well as it should, so more blood stays in your heart after each heartbeat. As more blood fills and stays in the heart, the heart muscle stretches even more and gets even weaker. [uofmhealth.org]

    Nemaline myopathy type 4 presents from infancy to childhood with hypotonia and moderate-to-severe proximal weakness with minimal or no progression. [mybiosource.com]

  • Asymptomatic

    Even if most individuals are asymptomatic, it is important that they avoid strenuous exercise. Symptomatic patients should be treated with beta-blockers. [amboss.com]

    Aortic stenosis[edit] Treatment of aortic stenosis is not necessary in asymptomatic patients, unless the stenosis is classified as severe based on valve hemodynamics.[5] Both asymptomatic severe and symptomatic aortic stenosis are treated with aortic [en.wikipedia.org]

    This estimate, however, excludes children affected by secondary cardiomyopathy and potentially children who are undiagnosed because they are asymptomatic. [rarediseases.org]

    Dilated cardiomyopathy (DCM) may be asymptomatic for a number of years. [centogene.com]

  • Camping

    PDE III degrades the phosphodiester bond in cAMP to break it down. [6] [7] When PDE III is inhibited, cAMP cannot be inactivated. [en.wikipedia.org]

    Antibodies to the beta1-adrenergic receptor (beta1AR), which are detected in a substantial number of patients with idiopathic DCM, may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance [software.broadinstitute.org]

    MAPT microtubule-associated protein tau 0.332121 PMM2 phosphomannomutase 2 0.3292 UCN2 urocortin 2 0.32774 IRX5 iroquois homeobox 5 0.325552 DSC3 desmocollin 3 0.324823 TXNRD2 thioredoxin reductase 2 0.32373 HMX2 H6 family homeobox 2 0.322455 CREB1 cAMP [amp.pharm.mssm.edu]

    ● Phospholamban ; Chromosome 6q22.31; Dominant Genetics Mutations: Missense & Inframe deletion Allelic with: CMH 18 Phospholamban protein Modulates sarcoplasmic reticulum calcium-ATPase activity Regulator of cardiac diastolic function Substrate for cAMP-dependent [neuromuscular.wustl.edu]

Respiratoric

  • Kussmaul Respiration

    respirations[16] muscle weakness neurological symptoms[16] lethargy coma seizures stupor hypercalcemia thiazides[16] gout tissue calcification[16] fatigue depression confusion anorexia nausea vomiting constipation pancreatitis increased urination hyperuricemia [en.wikipedia.org]

Gastrointestinal

  • Abdominal Distension

    Then dyspnea and abdominal distension was improved. This is the first case of dilated cardiomyopathy with autosomal dominant polycystic disease in Korea 키워드 Polycystic kidney disease·Dilated cardiomyopathy. [kci.go.kr]

Cardiovascular

  • Hypertension

    […] severe pulmonary hypertension. [thecardiologyadvisor.com]

    Medical use[edit] ACE inhibitors were initially approved for the treatment of hypertension and can be used alone or in combination with other anti-hypertensive medications. [en.wikipedia.org]

    We could not assess history of hypertension in our cases, and our finding of a stronger relation between diabetes and ICM when hypertension-related diagnoses were absent may have been attributable to the cross-sectional nature of the data and the observation [care.diabetesjournals.org]

    Pulmonary involvement is also common and signs of pulmonary hypertension or RV dysfunction may be present. [emedicine.medscape.com]

  • Tachycardia

    DCM presenting with syncope, nonsustained ventricular tachycardia, frequent premature ventricular contractions is referred to as arrhythmogenic DCM. [ecgwaves.com]

    가역성 확장성 심근병증의 원인 - Alcohol abuse - Pregnancy (Peripartum) - Selenium deficiency - Hypophosphatemia - Hypocalcemia - Thyroid disease - Cocaine use - Tachycardia (AF, sinus tachycardia) --> 하지만 많이 진행이 되어 fibrosis 진행이 많이 되어 myocardial damage 가 큰 경우 fully [sondoctor.co.kr]

    ATFB12) Becker muscular dystrophy (BMD) Benign scapuloperoneal muscular dystrophy with cardiomyopathy (EDMD2) Brugada syndrome 1 (BRGDA1) Cardiomyopathy, dilated, 1NN (CMD1NN) Cardiomyopathy, dilated, 2b (CMD2B) Catecholaminergic polymorphic ventricular tachycardia [ncbi.nlm.nih.gov]

    Ventricular tachycardia was found in 0%–33% of patients and syncope in one patient. Information on rare cardiomyopathies is sparse and only presented in case reports. [heart.bmj.com]

    Tachycardia-induced cardiomyopathy Generally, when detected early, this type of cardiomyopathy is reversible once treatment of the tachycardia is successful. [emedicine.medscape.com]

  • Palpitations

    A case study of a 75-year-old female patient visited the general medicine OPD with chief complaints of shortness of the breath, swelling of legs, chest discomfort, severe constipation, fatigue and palpitation. [japer.in]

    The most common symptoms of ARVC/D include palpitations, fainting, chest pain and a rapid, irregular heartbeat. Consult a doctor if you experience any of these symptoms, especially if someone in your immediate family has been diagnosed with ARVC/D. [heartandstroke.ca]

    원인: Viral infection(바이러스감염), Autoimmune disease(자가면역질환), Excessive alcohol consumption(음주과다), Exposure to toxic compounds(독성물질노출), Pregnancy(임신), Familial disease(가족력) - 증상: Shortness of breath(호흡곤란), Swelling of the ankles(발목부종), Tiredness(피로감), Palpitations [bioinformaticsandme.tistory.com]

    A 'thumping heart' (palpitations) may sometimes occur. You may be aware that your heartbeat is fast and/or irregular. Some people develop chest pains. [patient.info]

    […] mechanisms: Right-sided heart failure : decreased rRV output → systemic circulation congestion → clinical features of right-sided heart failure (backward failure with predominant systemic congestion) Clinical features Exertional dyspnea Angina pectoris Palpitations [amboss.com]

  • Hypotension

    The most likely manifestations are hypotension, which may be severe, hyperkalemia, hyponatremia and renal impairment with metabolic acidosis. [en.wikipedia.org]

    They are usually well tolerated but may lead to bradycardia, hypotension and fluid retention, and should be avoided in infants with decompensated HF.6 Although widely practiced, their use remains controversial.89 There is evidence that suggests potential [revportcardiol.org]

Neurologic

  • Confusion

    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]

  • Hyperactivity

    […] actually a molecular transformation of the cell to produce a down-regulation of catecolaminergic sensitivity.[8] This means that in the presence of excess epinephrine, a normal cardiac contraction is inhibited in an effort to reduce energy demands, prevent hyperactivity [en.wikipedia.org]

    Autosomal dominant DRD5 4p16.1 {Attention deficit-hyperactivity disorder, susceptibility to} 143465 126453 Autosomal dominant DRD5 4p16.1 {Blepharospasm, primary benign} 606798 126453 Isolated cases DSC2 18q12.1 Arrhythmogenic right ventricular dysplasia [mnglabs.com]

  • Slurred Speech

    It slows and impairs cognition and reaction time, impairs judgement, interferes with motor function resulting in motor incoordination, loss of balance, and slurred speech, impairs memory formation, and causes sensory impairment. [en.wikipedia.org]

Workup

Microbiology

  • Trypanosoma Cruzi

    Worldwide, however, the most common cause is Chagas' disease, an illness endemic to Central and South America that is due to infection by the protozoan Trypanosoma cruzi.[11] In viral myocarditis, the Coxsackie B family of the single-stranded RNA viruses [en.wikipedia.org]

    Trypanosoma cruzi (a protozoan) has infected 20 million people in South and Central America. [clevelandclinicmeded.com]

    In Central and South America, Chagas disease due to Trypanosoma cruzi is the most common infectious cause. Other causes include prolonged tachycardia, HIV infection, toxoplasmosis, thyrotoxicosis, and beriberi. [msdmanuals.com]

    Chagas cardiomyopathy Chagas disease caused by Trypanosoma cruzi. The acute presentation is characterized by dyspnea, fever, myalgia, hepatosplenomegaly, and myocarditis. Chronic infection involves the esophagus, colon, and heart. [emedicine.medscape.com]

Treatment

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]

[edit] Treatment may include suggestion of lifestyle changes to better manage the condition. [en.wikipedia.org]

Treatment of the underlying disease Treatment of heart failure Sodium restriction ACE inhibitors, beta blockers, diuretics, digoxin See “Treatment” in CHF. [amboss.com]

Treatment is directed at the cause. [msdmanuals.com]

Primary endpoint was mortality rate during treatment. Results After one year treatment, there were 5 deaths in metoprolol group and 4 in placebo group. 2 patients deteriorated in metoprolol, 9 in placebo group. [dict.cnki.net]

Prognosis

However, severity of disease and prognosis varies widely according to the genetic features involved. Certain genes are associated with a worse prognosis. [healthengine.com.au]

The prognosis of dilated cardiomyopathy varies considerably depending on many factors. In general, the prognosis worsens as the heart becomes more dilated and functions less well. Abnormal heart rhythms also indicate a worse prognosis. [msdmanuals.com]

The prognosis in idiopathic dilated cardiomyopathy may be poorer than the prognosis for most cancers, whereas tachycardia-induced cardiomyopathy can be cured completely by restoring sinus rhythm. [ecgwaves.com]

[…] cause of familial DCM, being reported in 12-25% of cases.3–5 The second most prevalent gene in familial DCM (LMNA) codes for lamin A/C, variants of which are found in around 10-15% of cases.6,7 DCM patients with LMNA mutations are reported to have worse prognosis [revportcardiol.org]

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]

Etiology

Pathophysiology Clinical features Diagnostics Pathology Treatment Complications Hypertrophic cardiomyopathy Epidemiology Etiology Pathophysiology Clinical features Diagnostics Pathology Treatment Restrictive cardiomyopathy Epidemiology Etiology Pathophysiology [amboss.com]

II – Forms A) Etiology The etiology of DCM is heterogeneous. In developed countries CAD and myocardial infarction (MI) are the most common causes of HF, approximating 50-75% of all HF patients. [escardio.org]

A systematic approach to define the etiology is essential for determination of the most effective treatment strategy. [emedicine.medscape.com]

At present there is no consensus on how to classify CMs on the basis of etiology, physiology or treatment, as their origin and pathophysiology are not well understood. [revportcardiol.org]

Epidemiology

Genetics Mutations: Q131E; R279C Allelic with: CMD 1CC CMH 21 ● Chromosome 7p12.1-q21; Dominant Epidemiology: 1 family Clinical Onset age: 13 years to Adult Cardiac failure Sudden death CMH 22 ● Myopalladin gene (MYPN) ; Chromosome 10q21.3; Dominant [neuromuscular.wustl.edu]

Etiology Pathophysiology Clinical features Diagnostics Pathology Treatment Complications Hypertrophic cardiomyopathy Epidemiology Etiology Pathophysiology Clinical features Diagnostics Pathology Treatment Restrictive cardiomyopathy Epidemiology Etiology [amboss.com]

Rockville, MD, 2000 ↵ Kahn HA, Sempos CT: Statistical Methods in Epidemiology. [care.diabetesjournals.org]

[…] 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]

Pathophysiology

Clinical features Diagnostics Pathology Treatment Complications Hypertrophic cardiomyopathy Epidemiology Etiology Pathophysiology Clinical features Diagnostics Pathology Treatment Restrictive cardiomyopathy Epidemiology Etiology Pathophysiology Clinical [amboss.com]

Pathophysiological mechanisms that lead to diastolic dysfunction in dilated cardiomyopathy Back to article page [cardiab.biomedcentral.com]

"Epidemiology and pathophysiology of Takotsubo syndrome" (PDF). Nature Reviews Cardiology. 12 (7): 387–97. doi:10.1038/nrcardio.2015.39. hdl:10044/1/25730. [en.wikipedia.org]

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]

Sepsis-induced cardiomyopathy: a review of pathophysiologic mechanisms. Heart Fail Rev 2010;15:605-11. 41. Singh K, Carson K, Shah R, Sawhney G, Singh B, Parsaik A, et al. [e-jnc.org]

Prevention

In some cases, it prevents the heart from relaxing and filling with blood as it should. Over time, it can affect the other heart chambers. [medicinenet.com]

Treating cardiomyopathy There's usually no cure for cardiomyopathy, but the treatments can be effective at controlling symptoms and preventing complications. [nhs.uk]

His research aims to find better ways to diagnose, treat and prevent people dying from this disease, and beat the heartbreak. Donate [bhf.org.uk]

Prevention Healthy lifestyle habits can help you prevent or minimize the effects of dilated cardiomyopathy. If you have dilated cardiomyopathy: Don't smoke. Don't drink alcohol, or drink in moderation. Don't use cocaine or other illegal drugs. [mayoclinic.org]

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]

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