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Familial Isolated Dilated Cardiomyopathy

Familial or Idiopathic Dilated Cardiomyopathy


  • In family A, a novel R349L mutation was present in the mother and her identical twin daughters. They required cardiac transplantation at 36, 18, and 20 years of age.[ncbi.nlm.nih.gov]
  • Hypertrophic cardiomyopathy is present in some relatives of patients with idiopathic DCM. Familial DCM is present in patients with a previous diagnosis of alcoholic DCM.[revespcardiol.org]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Goldman-Cecil Medicine offers definitive, unbiased guidance on the evaluation and management of every medical condition, presented by a veritable "Who's Who" of modern medicine.[books.google.com]
  • On this page you can find some general statistics about the data present in DIDA. General database statistics Variant effects Almost all variants present in DIDA are non-synonymous: 68.41% are missense, 13.74% are frameshift and 8.79% are nonsense.[dida.ibsquare.be]
  • […] storage disease due to muscle glycogen phosphorylase deficiency Hepatocellular carcinoma, childhood-onset Hereditary chronic pancreatitis Idiopathic bronchiectasis Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Male infertility[csbg.cnb.csic.es]
Intestinal Disease
  • disease due to fat malabsorption Intestinal disease due to vitamin absorption anomaly Intestinal lymphangiectasia Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Intestinal polyposis syndrome Intractable diarrhea of infancy[se-atlas.de]
  • He gave history of palpitation off and on at rest, associated with chest pain and breathlessness in the last 2 years. There was no definite aggravating or relieving factor.[ijpmonline.org]
  • The most common presentation was shortness of breath (58%), followed by palpitation (17%). Diastolic dysfunction was noted in all patients, whereas systolic dysfunction was subclinical in four, mild to moderate in four, and severe in three patients.[cags.org.ae]
  • The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise.[uniprot.org]
  • - Describe the idiopathic and nonidiopathic causes of DCM -Be able to clinically manage patients with DCM Case Study: You are a third year medical student asked to do a history and physical on a 30 year-old patient presenting with 3-month history of palpitations[gwumc.edu]
  • […] cardiomyopathy 3 (RCM3) (Infantile) Dilated cardiomyopathy with conduction defect ( CMD 1E ; CDCD2) Sodium channel, voltage-gated, Type V, Alpha subunit (SCN5A) ; Chromosome 3p22.2; Dominant SCN5A: Allelic disorders Clinical Onset ages: Prenatal to 62 years Palpitations[neuromuscular.wustl.edu]


First-Degree Atrioventricular Block
  • A sister of one of the first-degree relatives with high LVE and CPK cited had a CPK of 188 IU associated with first-degree atrioventricular block.[revespcardiol.org]
Premature Atrial Contractions
  • Stage I occurs in the second and third decades and is characterized by absence of symptoms, normal heart size, sinus bradycardia, and premature atrial contractions. Stage II is marked by first-degree AV block in the third and fourth decades.[gwumc.edu]


  • Practical, bulleted, highly templated text with easy-to-use features including flow charts and treatment boxes.[books.google.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Managing treatment for Heart Disease is a highly personalized process.[familyheart.stanford.edu]
  • The use of corticosteroids is the hallmark of treatment and should be started in patients with a high suspicion of cardiac sarcoidosis, even in the presence of a negative biopsy, as early treatment is more effective than later treatment.[emedicine.medscape.com]
  • Treatment for FIHP often includes surgical removal of the affected gland(s). Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI. Description Last Updated: May 04, 2015[diseaseinfosearch.org]


  • Identification of these areas and restoration of their perfusion through revascularization might improve the ejection fraction and long-term prognosis.[clevelandclinicmeded.com]
  • The latter was associated with a poor prognosis, with both patients dying.[cags.org.ae]
  • Haemodynamic findings related to long-term prognosis. Acta Med Scand 1976;199:407-11. 6. Fitchett DH, Sugrue DD, Mac Arthur CG, Oakley Celia M. Right ventricular dilated cardiomyopathy. Br Heart J 1984;51:25-9. 7.[ijpmonline.org]
  • Oechslin EN, Attenhofer Jost CH, Rojas JR, Kaufmann PA, Jenni R: Long-term follow-up of 34 adults with isolated left ventricular noncompaction: A distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol 2000;36:493–500.[karger.com]
  • Unfortunately, therapy does not appear to improve LV volume or function in those with an LVEF below 30%. [57] The presence of concurrent pulmonary sarcoidosis or a depressed LVEF carries a worse prognosis. [58, 59] Immunosuppressants such as methotrexate[emedicine.medscape.com]


  • The risk factors for heart transplantation or death vary depending on the etiology of pediatric dilated cardiomyopathy, researchers found.[medpagetoday.com]
  • All analyses were performed by etiologic group.[scholarlyrepository.miami.edu]
  • Images Dilated cardiomyopathy Etiology nongenetic conditions infectious or postinfectious conditions Coxsackie virus Q and B Enteroviruses Mumps Coryne diphteroides Endocrine/vitamin/mineral disorders Thyrotoxicosis Hypothyroidism Vitamin E deficiency[humpath.com]
  • A systematic approach to define the etiology is essential for determination of the most effective treatment strategy.[emedicine.medscape.com]
  • In many patients, however, DCM may have a complex etiology with contributions from one or more genetic variants of lesser effect size together with acquired factors.[renalandurologynews.com]


  • : Australian male Genetics Mutation: Lys92Arg CALR3 protein Ca -binding chaperone Localized mainly in endoplasmic/sarcoplasmic reticulum Colocalizes with: SPTLC2 CMH 20 Nexilin (NEXN) ; Chromosome 1p31.1; Dominant Epidemiology: Chinese families Genetics[neuromuscular.wustl.edu]
  • Relevant External Links for RYR2 Genetic Association Database (GAD) RYR2 Human Genome Epidemiology (HuGE) Navigator RYR2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: RYR2 No data available for Genatlas for RYR2 Gene Identification of[genecards.org]
  • Epidemiology of desmin and cardiac actin gene mutations in a European population of dilated cardiomyopathy. Eur Heart J 2000;21:1872-6. Medline 18. Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, et al.[revespcardiol.org]
  • […] cardiomyopathy, contact the Children’s Cardiomyopathy Foundation listed in the Resources section of this report or the National Institutes of Health (NIH) clinical trials web site: The Pediatric Cardiomyopathy Registry was established to describe the epidemiologic[rarediseases.org]
  • […] corticosteroids; thus, timely diagnosis via EMB is prudent. [13, 14] Treatment with cyclosporine and corticosteroids is associated with a median transplant-free survival of 12.3 months compared to 3 months without immunosuppression. [15] The European Study of Epidemiology[emedicine.medscape.com]
Sex distribution
Age distribution


  • Symbol Gene Name Reference Human - 26926 2q31 TTN titin Mouse - 33467 2 D Ttn titin Rat - - 3q23 Ttn titin Previous and Unofficial Names cardiomyopathy, dilated 1G (autosomal dominant) CMD1G connectin mdm MYLK5 shru TMD Clinically-Relevant Mutations and Pathophysiology[guidetopharmacology.org]
  • The idiopathic category should continue to diminish as more information explaining pathophysiologic mechanisms, specifically genetic-environmental interactions, becomes available. Toxins are a significant cause.[emedicine.medscape.com]
  • Pathophysiology Dilated cardiomyopathy represents the final common morphologic outcome of various biologic insults. The combination of myocyte injury and necrosis associated with myocardial fibrosis results in impaired mechanical function.[clevelandclinicmeded.com]
  • Discussion The histopathological and pathophysiologic features of hypertrophic cardiomyopathy are quite different from those of dilated cardiomyopathy.[nejm.org]
  • An ultimate goal of genetics studies is to understand the molecular mechanisms underpinning DCM development and to devise therapies that will reverse or stop the primary disease pathophysiology.[renalandurologynews.com]


  • Key benefits include: Clarify diagnosis and risk for sudden cardiac arrest Target medical management and prevention of cardiac arrest and other complications Adjust management in those with DCM due to a specific cardiac genotype, or underlying conditions[ambrygen.com]
  • Early diagnosis is indicated for 2 reasons: treatment of significant arrhythmias may prevent sudden unexpected death, and genetic counseling can be provided.[gwumc.edu]
  • Early identification of individuals at risk is of paramount importance as this provides an opportunity for early intervention and prevention of DCM development.[renalandurologynews.com]
  • The most important aspect, however, is the early detection of the abnormality, and prevention of further complications. Regular medications and treatment regimes used in heart failure can be used effectively for the management of LVNC too.[cags.org.ae]
  • In amyloidosis, specific proteins (amyloids) abnormally accumulate in the heart resulting in stiffening of the ventricles, which prevents proper blood flow through the heart.[rarediseases.org]

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