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]

At diagnosis he presented grade 1 AVB and left bundle-branch block with a CPK of 192 U/l (normal up to 195 U/l). A sister (II: 2) presented DCM and LBBB. Two of her offspring (III: 1 and III: 3) had LVE in the electrocardiogram. [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]

• Palpitations

  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]

  […] 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]

  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]

The detailed diagnostic workup and possible red flags are presented in Table 3. [intechopen.com]

Workup is focused on identifying any possible reversible causes. Recommended laboratory testing includes thyroid function tests, HIV serology, electrolytes, and iron studies (to rule out hemochromatosis). [statpearls.com]

The diagnosis of a particular seizure type, and of a specific type of epilepsy (epilepsy syndrome), directs the diagnostic workup of these patients and their initial therapy. [ncbi.nlm.nih.gov]

• 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]

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

Overall, the prognosis of patients with dilated cardiomyopathy is guarded. [statpearls.com]

Prognosis Status of Prognosis Patients with DCM generally have an ominous prognosis. DCM is a frequent cause of heart failure and the primary indication for heart implantation [18]. [oatext.com]

Prognosis MSL is basically a benign condition but in some cases, there may be serious physical, cosmetic and psychological repercussions. Associated disorders may affect the prognosis. [orpha.net]

The prognosis of DCM patients is variable and depends on multiple risk factors. [intechopen.com]

Identification of these areas and restoration of their perfusion through revascularization might improve the ejection fraction and long-term prognosis. [clevelandclinicmeded.com]

The risk factors for heart transplantation or death vary depending on the etiology of pediatric dilated cardiomyopathy, researchers found. [medpagetoday.com]

Carcinoma/radiotherapy, Laryngeal Neoplasms/radiotherapy, Pemphigus/etiology, Radiation Injuries/etiology, Acantholysis/drug therapy, Acantholysis/etiology, Acantholysis/pathology, Adrenal Cortex Hormones/therapeutic use, Antigens/immunology, Antineoplastic [pesquisa.bvsalud.org]

All analyses were performed by etiologic group. [scholarlyrepository.miami.edu]

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

Etiology Etiology is a study of the cause of disease conditions useful for guiding therapeutic management [4]. The etiology of DCM is extremely heterogeneous. [oatext.com]

Psoriasis/epidemiology, Adolescent, Adult, Aged, Aged, 80 and over, Algeria/epidemiology, Cross-Sectional Studies, Female, Humans, Incidence, Male, Middle Aged, Morocco/epidemiology, Pruritus/epidemiology, Pruritus/etiology, Psoriasis/etiology, Psoriasis [pesquisa.bvsalud.org]

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]

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

Summary Epidemiology Multiple symmetric lipomatosis (MSL) primarily affects men and has a sex ratio of 15:1 to 30:1, depending on the region. The disorder may occur in all ethnic groups. [orpha.net]

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

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]

[…] complex Cypher/ ZASP encodes for a part of the Z-line in cardiac and skeletal muscle, participating in the assembly and targeting of cytoskeletal proteins TAZ gene with unknown function causing X-linked dilated cardiomyopathy, which suggests that the pathophysiology [123sonography.com]

This chapter provides a review of dilated cardiomyopathy with specific focus on the pathophysiological aspects and genetic etiology of the disease. [intechopen.com]

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]

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]

Both salt and water restrictions are necessary to prevent symptoms. Patients should remain physically active or enroll in a cardiac rehab program. [statpearls.com]

However, all these approaches need further research. 2.9 Prevention of sudden cardiac death The most effective therapy of malignant VTs and thus prevention of SCD in DCM patients is the implantation of an ICD. [intechopen.com]

The primary indication of ICD therapy is the prevention of sudden cardiac death in idiopathic DCM and selected secondary DCM. [oatext.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]