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Dilated Cardiomyopathy 1R

Familial Dilated Cardiomyopathy


  • Lakhhdar et al. reported the case of two brothers (25 and 23 years) and their sister (who died at 14) presenting a DCM and for whom the celiac disease was discovered whereas they presented no digestive symptoms [ 17 ].[ncbi.nlm.nih.gov]
  • Presentation may be subtle but features may include fever, flu-like symptoms, a third heart sound, raised filling pressures or atrial flutter.[patient.info]
  • In more severe cases, affected individuals present with signs and symptoms of heart failure. Young children often have poor appetite and cachexia.[revportcardiol.org]
  • Presently known DCM genetic loci are summarized in Table 2, below. Table 2.[emedicine.medscape.com]
  • The clinical presentation of PHPT has evolved over the past several years as disease detection has improved. Approximately 85% of patients presenting with PHPT are asymptomatic or minimally symptomatic.[revespcardiol.org]
  • Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet.[ghr.nlm.nih.gov]
  • Symptoms of DCM can occur at any age and may include: Heart failure symptoms ( shortness of breath and fatigue ). Swelling of the lower extremities. Fatigue (feeling overly tired). Weight gain.[medicinenet.com]
  • Some people experience fatigue or vague abdominal discomfort. However, if the liver becomes inflamed due to excess fat you may also experiences the following symptoms: 1. Poor appetite 2. Weight loss 3. Abdominal pain 4.[dailystar.co.uk]
  • Fatigue (feeling overly tired), inability to exercise, or carry out activities as usual. Weight gain, cough and congestion related to fluid retention. Palpitations or fluttering in the chest due to abnormal heart rhythms ( arrhythmia ).[my.clevelandclinic.org]
  • Common symptoms of heart failure include shortness of breath, fatigue and swelling of the ankles, feet, legs, abdomen and veins in the neck.[heart.org]
Chronic Infection
  • To illustrate the potential of immune repertoire sequencing to monitor atypical post-transplant trajectories, these investigators analyzed 2 more patients, 1 with chronic infections and 1 with amyloidosis.[aetna.com]
Muscular Atrophy
  • atrophy, x-linked 3 DNM2-related intermediate Charcot-Marie-Tooth neuropathy Dominant dystrophic epidermolysis bullosa with absence of skin Drash syndrome Duchenne muscular dystrophy Dyskeratosis congenita Dyskeratosis congenita X-linked Dystonia 3,[pentacorelab.hu]
  • atrophy, distal, X-linked 3 300489 ATP7A ATPase, Cu transporting, alpha polypeptide Enf-789 Spinocerebellar ataxia 1 164400 ATXN1 ataxin 1 Enf-790 Spinocerebellar ataxia 2 183090 ATXN2 ataxin 2 Enf-791 Spinocerebellar ataxia 7 164500 ATXN7 ataxin 7 Enf[ac-gen.com]
Peripheral Neuropathy
  • neuropathies, including Charcot-Marie-Tooth disease (WES based NGS panel for 204 genes)[cgcgenetics.com]
  • Other manifestations include osteomalacia, coagulopathy, and peripheral neuropathy. A gluten-free diet usually results in complete resolution of the symptoms and correction of the metabolic abnormalities.[ncbi.nlm.nih.gov]
  • neuropathy GJB3 gap junction protein, beta 3, 31kDa Enf-249 Deafness, autosomal recessive GJB3 gap junction protein, beta 3, 31kDa Enf-250 Deafness, autosomal recessive 12 601386 CDH23 cadherin-related 23 Enf-251 Deafness, autosomal recessive 18A 602092[ac-gen.com]
  • Symptomatic patients present with hypertension (episodic or sustained) and paroxysmal symptoms such as dizziness, headache, flushing, diaphoresis, and palpitations.[revespcardiol.org]


Myocardial Fibrosis
  • Sakata Y, Chancey AL, Divakaran VG, Sekiguchi K, Sivasubramanian N, Mann DL (2008) Transforming growth factor-beta receptor antagonism attenuates myocardial fibrosis in mice with cardiac-restricted overexpression of tumor necrosis factor.[link.springer.com]
  • Diffuse myocardial fibrosis may lead to reduced voltage QRS complexes, particularly in the limb leads. There may be a discrepancy of QRS voltages with signs of hypertrophy in V4-6 and relatively low voltages in the limb leads.[lifeinthefastlane.com]


  • Before the treatment he had ejection fraction of 18{\%}. Discussing with his cardiologists we decided for immunoadsorption therapy. We performed 5 cycles on consecutive days in Intensive Care Unit.[hungary.pure.elsevier.com]
  • Treatments for dilated cardiomyopathy At present there is no cure for DCM, but treatments are available to help control your symptoms and prevent complications. Your treatment will depend on how your heart is affected and what symptoms you have.[bhf.org.uk]
  • Fainting What treatment is available? There is currently no cure for DCM, but there are treatments to help control symptoms and prevent complications. Treatment options will depend on your individual symptoms.[dailystar.co.uk]
  • Treatment guidelines recommend unilateral laparoscopic adrenalectomy in patients with documented unilateral PA, or medical treatment with a mineralocorticoid receptor antagonist (spironolactone or eplerenone) in nonsurgical patients. 125 Medical treatment[revespcardiol.org]
  • Treatment for DCM aims to control symptoms and reduce complications, and the condition itself may improve with treatment. However, ongoing monitoring of treatment and symptoms is important.[cardiomyopathy.org]


  • The prognosis of DCM is poor despite the development of medical treatment. Immunoadsorption is hopeful since, with the removal of antibodies, cardiac function and NYHA class can improve and LVAD/heart transplantation-free survival can be prolonged.[hungary.pure.elsevier.com]
  • 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.[merckmanuals.com]
  • Prognosis In a clinical study of 18 DCMA patients, over 70% of patients died from either progressive cardiac failure or sudden cardiac death.[orpha.net]
  • Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]
  • Prognosis Dilated cardiomyopathy is associated with a survival rate of less than 50% at 10 years.[emedicine.medscape.com]


  • The etiology is unknown in almost half of the cases. Many cardiac specific antibodies have been identified till now which can cause decreased cardiac function, ventricular tachycardia or sudden heart death.[hungary.pure.elsevier.com]
  • Etiology DCMA is caused by mutation of the DNAJC19 gene (encoding the DNAJC19 protein localized to the mitochondria in cardiac myocytes).[orpha.net]
  • All the pediatric patients who present with DMC or myocarditis in the absence of known etiologies should be carfully investigated.[ncbi.nlm.nih.gov]
  • It is also impossible to be sure which was the more significant etiology, or if both played a major role, as the simultaneous treatment of both situations prevented a clearer definition of the etiology.[revportcardiol.org]
  • However, in the vast majority of patients, no specific etiology is demonstrable (ie, idiopathic DCM). Systemic carnitine deficiency and anthracycline-induced cardiomyopathy are notable exceptions.[emedicine.medscape.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]
  • Summary Epidemiology To date, all cases of DCMA reported involve individuals from the Dariusleut Hutterite population, an endogamous population of the Great Plains region of Canada and the northern United States.[orpha.net]
  • Relevant External Links for ACTC1 Genetic Association Database (GAD) ACTC1 Human Genome Epidemiology (HuGE) Navigator ACTC1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ACTC1 No data available for Genatlas for ACTC1 Gene Prevalence[genecards.org]
  • Epidemiology of dilated cardiomyopathy. A prospective post-mortem study of 5252 necropsies. The Heart Muscle Disease Study Group. Eur Heart J. 1997 Jan. 18(1):117-23. [Medline]. Matsumura Y, Takata J, Kitaoka H, Kubo T, Baba Y, Hoshikawa E, et al.[emedicine.medscape.com]
  • […] 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]
Sex distribution
Age distribution


  • It has been suggested that a 16 kDa prolactin fragment may play a role in its pathophysiology. 8 Case reports have described the use of bromocriptine in addition to standard heart failure therapy in peripartum cardiomyopathy. 9 Growth Hormone Overview[revespcardiol.org]
  • Pathophysiology and diagnosis of heart failure. In: Hurst's The Heart. V Fuster, et al., eds. Ch. 20. 10th ed. New York, NY: McGraw Hill; 2001; 655-685. Morrow WR. Cardiomyopathy and heart transplantation in children.[aetna.com]


  • 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]
  • In some cases, this prevents the heart from filling with blood as it should. Over time, it can affect the other chambers. Symptoms Many people with dilated cardiomyopathy have no symptoms. Some that do have only minor ones, and live a normal life.[webmd.com]
  • In some cases, it prevents the heart from relaxing and filling with blood as it should.[dailystar.co.uk]
  • 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]

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