Presentation
(Oldfors [1994]), were described in patients presenting heart failure. [dmd.nl]
Most affected patients present in infancy or early childhood with tachypnea caused by a low cardiac output. Some may also present with cyanosis, syncope, dysmorphic features, and a failure to thrive. [cags.org.ae]
A heritable pattern is present in 20 to 30% of cases. Most familial CMD pedigrees show an autosomal dominant pattern of inheritance, usually presenting in the second or third decade of life (summary by Levitas et al., 2010, pubmed:20551992). [flybase.org]
These patients present X-linked inheritance, dominant cardiac involvement and raised levels of serum creatine phosphokinase. [link.springer.com]
Entire Body System
- Amyloidosis
ECG Nonspecific abnormalities in S and T waves Low voltage (especially in amyloidosis ) Left bundle branch block and other conduction disorders CXR Cardiac catheterization Endo/myocardial biopsy Histology classically shows fibrosis. [amboss.com]
[…] beta beta Städtisches Klinikum Dessau Assigned diseases: Back to detailed view In the following you will find the diseases that are treated in this facility: 17q11 microdeletion syndrome APC-related attenuated familial adenomatous polyposis ATTRV122I amyloidosis [se-atlas.de]
Causes of secondary restrictive cardiomyopathy include infiltrative diseases (eg, amyloidosis, sarcoidosis, radiation carditis) and storage diseases (eg, hemochromatosis, glycogen storage disorders, Fabry's disease). [clevelandclinicmeded.com]
[…] most common type of amyloidosis involving the myocardium results from plasma cell dyscrasias. [emedicine.medscape.com]
Cardiomyopathy, restrictive, Atrial septal defect, Dilated cardiomyopathy (DCM) AD 23 63 ACTN2 Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM) AD 11 44 ALMS1 * Alström syndrome AR 197 302 ALPK3 Pediatric cardiomyopathy AR 12 6 APOA1 Amyloidosis [blueprintgenetics.com]
- Swelling
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]
Classic symptoms include paroxysmal nocturnal dyspnea, orthopnea, leg swelling, and shortness of breath. Nonspecific symptoms of fatigue, malaise, and weakness also can be present. [statpearls.com]
We report the case of a 13-year-old girl that was seen for a painful swelling of the right hand associated with palmar hyperhidrosis, which occurred after a trauma to the hand. [pesquisa.bvsalud.org]
[…] to >50% of familial DCM in patients, who were initially diagnosed with IDC [9, 11, 14, 15, 16, 17, 18]. 2.3 Clinical presentation The first presentation of patients with DCM is often characterized by signs and symptoms of HF, such as dyspnea, ankle swelling [intechopen.com]
Additional symptoms may include swelling of the legs and feet and, in some people, chest pain. [rarediseases.org]
- Coronary Atherosclerosis
Ischemic cardiomyopathy is generally ascribed to epicardial coronary atherosclerosis, but it can also occur in any vasculitic process (eg, Takayasu's arteritis), congenital abnormalities (including aberrant coronary arteries), embolic conditions (eg, [clevelandclinicmeded.com]
Mechanisms of cardiac toxicity include myocardial ischemia from increased oxygen consumption, prothrombotic effects, coronary vasospasms, and acceleration of coronary atherosclerosis [24]. [intechopen.com]
Cardiovascular
- 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]
- Cardiomegaly
Turcot syndrome with polyposis Uhl anomaly Unclassified cardiomyopathy Unclassified intestinal pseudoobstruction Undetermined colitis Unspecified juvenile idiopathic arthritis Waardenburg-Shah syndrome Whipple disease X-linked intellectual disability-cardiomegaly-congestive [se-atlas.de]
Chest X-ray may show cardiomegaly and evidence of pulmonary effusions and venous congestion. Electrocardiogram (EKG) may show nonspecific ST segment and T wave abnormalities. ECG may also reveal atrial fibrillation. [statpearls.com]
[…] it has a limited role in establishing etiology Atrial and/or ventricular dilation ↓ Left ventricular ejection fraction (LVEF) Wall motion abnormalities (e.g., inferolateral hypokinesis is seen in muscular dystrophy and acute myocarditis) Chest x-ray Cardiomegaly [amboss.com]
Cardiomegaly persisting longer than 4-6 months carries a mortality of 50% at 6 years. Subsequent pregnancies in women with cardiomyopathy carries a substantial risk of clinical deterioration, particularly in those who did not recover LV function. [emedicine.medscape.com]
Gln303Lys LCAD protein Location: Mitochondrial matirx Action: Catalyzes 1st step in mitochondrial β-oxidation of fatty acids Onset: Early childhood Episodes: Associated with fasting Hypoglycemia, Hypoketotic Cardiac arrest Clinical findings Hepatomegaly Cardiomegaly [neuromuscular.wustl.edu]
Workup
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]
Rhythm
- 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]
Treatment
Practical, bulleted, highly templated text with easy-to-use features including flow charts and treatment boxes. [books.google.com]
Management and treatment In some patients, treatment may not be required. [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]
It’s important that families affected by cardiomyopathy receive accurate assessment, diagnosis, treatment and support from specialists. [bhf.org.uk]
Managing treatment for Heart Disease is a highly personalized process. [familyheart.stanford.edu]
Prognosis
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]
Etiology
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]
Epidemiology
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]
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 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]
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]
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]
Prevention
[…] for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). [scielo.edu.uy]
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]