Dilated Cardiomyopathy 1h
Disease Details
Family Health Simplified
- Description
- Dilated cardiomyopathy 1H is a genetic disorder characterized by the enlargement and weakening of the left ventricle of the heart, leading to decreased cardiac function.
- Type
- Dilated cardiomyopathy 1H (DCM1H) is a type of hereditary dilated cardiomyopathy. The genetic transmission is autosomal dominant.
- Signs And Symptoms
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**Signs and Symptoms of Dilated Cardiomyopathy (DCM):**
- Shortness of breath (dyspnea), particularly during exertion or when lying down
- Fatigue and weakness
- Swelling (edema) in legs, ankles, and feet
- Weight gain due to fluid retention
- Reduced ability to exercise
- Persistent cough or wheezing, possibly due to fluid buildup in the lungs
- Rapid or irregular heartbeat (palpitations)
- Chest pain or discomfort
- Dizziness, lightheadedness, or fainting
- Abdominal bloating due to fluid buildup
If progression occurs, patients may also experience symptoms of congestive heart failure. Regular medical evaluations can help manage and monitor the condition effectively. - Prognosis
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Dilated cardiomyopathy 1H (DCM 1H) is a specific genetic form of dilated cardiomyopathy involving the MYH7 gene.
Prognosis: The prognosis for individuals with DCM 1H varies based on the severity of the disease, age of onset, and response to treatment. Some patients may experience stable conditions with medical management, while others may progress to heart failure, requiring advanced therapies such as mechanical assist devices or heart transplantation. Genetic counseling and early diagnosis are essential for improving outcomes.
Nan: The term "nan" appears ambiguous in this context and might need clarification. If you meant "nan" as in "not a number," it indicates a missing or undefined value and doesn't correspond to any specific medical information. If you have another specific aspect of the disease in mind, please specify. - Onset
- Dilated cardiomyopathy 1H (DCM1H) is a subtype of dilated cardiomyopathy, a condition characterized by an enlarged and weakened left ventricle that impairs the heart's ability to pump blood effectively. The onset of DCM1H can vary significantly; it may present at any age from infancy to adulthood. This variability is due to its genetic basis, typically resulting from mutations in specific genes that affect heart muscle function.
- Prevalence
- The prevalence of dilated cardiomyopathy (DCM) varies, but it's estimated to affect approximately 1 in 250 to 1 in 500 adults.
- Epidemiology
- Dilated cardiomyopathy type 1H (DCM1H) specifically relates to a genetic variant of dilated cardiomyopathy caused by mutations in the gene encoding for troponin T type 2 (TNNT2). The epidemiology of this specific subtype is not as extensively documented as general dilated cardiomyopathy, which can have multiple genetic and non-genetic causes. However, dilated cardiomyopathy in general affects approximately 1 in 250 to 500 individuals globally. The prevalence of DCM linked specifically to TNNT2 mutations is part of the broader category of familial dilated cardiomyopathy, which accounts for around 20-35% of all DCM cases. Nan refers to "not a number" or could be an indication of a data placeholder and doesn't specifically relate to epidemiology in this context.
- Intractability
- Dilated cardiomyopathy (DCM) can be challenging to manage and may be considered intractable in some cases. The condition involves the progressive weakening and enlargement of the heart's ventricles, which can lead to heart failure. Treatment often includes medication, lifestyle changes, and sometimes surgical interventions like the implantation of a cardiac device. In severe cases, a heart transplant may be necessary. Despite various treatment options, the disease can be difficult to control fully, particularly if it progresses to advanced stages. Thus, while not universally intractable, it can be highly challenging to manage effectively in many cases.
- Disease Severity
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For dilated cardiomyopathy (DCM) with the subtype 1H:
**Disease Severity**: DCM 1H involves the progressive weakening and enlargement of the heart's ventricles, leading to decreased cardiac function. Disease severity can vary widely among individuals and can range from asymptomatic to severe heart failure. Advanced stages may require interventions such as medication, implantable devices, or even heart transplantation. - Healthcare Professionals
- Disease Ontology ID - DOID:0110429
- Pathophysiology
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Dilated cardiomyopathy (1h) is a specific form of dilated cardiomyopathy involving genetic mutations. Pathophysiology includes:
1. **Genetic Mutations**: Specific gene mutations affect the proteins in cardiac muscle cells, impairing normal heart muscle function.
2. **Myocyte Dysfunction**: The mutations lead to abnormalities in the cardiac myocytes, causing weakened muscle contraction.
3. **Ventricular Dilation**: Due to impaired contraction, the left ventricle enlarges (dilates) progressively, diminishing its ability to pump blood efficiently.
4. **Reduced Ejection Fraction**: The heart's reduced pumping capability results in a decreased ejection fraction, leading to symptoms of heart failure.
5. **Secondary Changes**: Compensatory mechanisms, including neurohormonal activation, may initially sustain cardiac output but eventually contribute to further cardiac remodeling and functional decline.
Effective management often involves addressing symptoms, preventing complications, and genetic counseling. - Carrier Status
- Dilated cardiomyopathy 1H (DCM 1H) is a genetic condition associated with mutations that affect heart muscle function. Carrier status refers to an individual who carries one copy of a mutated gene but may not show symptoms of the disease. Identifying carrier status for DCM 1H typically involves genetic testing to detect specific mutations in genes like TNNT2.
- Mechanism
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Dilated cardiomyopathy 1H (DCM1H) is related to mutations in the TNNT2 gene, which encodes cardiac troponin T, a crucial component of the troponin complex involved in cardiac muscle contraction. The molecular mechanisms include:
1. **Aberrant Sarcomere Function**: TNNT2 mutations can lead to impaired binding of troponin T to tropomyosin, consequently disrupting the troponin complex and its regulation of calcium-mediated cardiac muscle contraction.
2. **Calcium Sensitivity Alteration**: These mutations often alter the sensitivity of the sarcomere to calcium, affecting the precise regulation of muscle contraction and relaxation cycles.
3. **Disrupted Troponin Complex Stability**: Mutations in TNNT2 may destabilize the troponin complex, impairing the coupling between electrical and mechanical cardiac activity, thus leading to suboptimal cardiac output.
4. **Adverse Remodeling and Cell Death**: Chronic mechanical stress from the above disruptions can lead to adverse cardiac remodeling, myocyte apoptosis, and interstitial fibrosis, further deteriorating cardiac function. - Treatment
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Dilated cardiomyopathy 1H (DCM1H) is a genetic form of dilated cardiomyopathy. The treatment generally involves managing symptoms, preventing complications, and addressing the underlying cause if known. This may include:
1. Medications: Beta-blockers, ACE inhibitors, diuretics, and anticoagulants, among others.
2. Lifestyle Changes: Dietary adjustments, exercise under supervision, and avoiding alcohol and smoking.
3. Devices: Implantable cardioverter-defibrillators (ICDs) or pacemakers for arrhythmias.
4. Surgery: In severe cases, options like a left ventricular assist device (LVAD) or heart transplant may be considered.
Management is highly individualized based on the severity and progression of the disease. - Compassionate Use Treatment
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Dilated cardiomyopathy (DCM) is typically managed through standard treatments aimed at controlling symptoms and preventing progression, such as medications and lifestyle changes. However, for cases that are refractory to standard treatments, compassionate use or off-label and experimental treatments may be considered:
1. **Compassionate Use Treatments:**
- **Ivabradine:** Occasionally used to reduce heart rate in specific DCM cases without enough response to conventional treatments.
- **Ventricular Assist Devices (VADs):** Used as a bridge to heart transplantation or, in some cases, as a long-term therapy.
- **Heart transplantation:** Considered for patients with end-stage DCM who are not responsive to other treatments.
2. **Off-label or Experimental Treatments:**
- **Cardiac Resynchronization Therapy (CRT):** Sometimes used in off-label situations to improve heart function and symptoms in DCM patients not qualifying under standard indications.
- **SGLT2 inhibitors (e.g., empagliflozin, dapagliflozin):** Initially approved for diabetes treatment but are being investigated for potential benefits in heart failure, including non-diabetic DCM cases.
- **Gene Therapy:** Early-phase clinical trials are investigating gene therapy targeting specific genetic mutations associated with familial DCM.
- **Stem Cell Therapy:** Experimental studies are examining the potential of stem cells to repair damaged myocardium in DCM patients.
These approaches need thorough evaluation in clinical trials to establish efficacy and safety for widespread use. - Lifestyle Recommendations
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For individuals with Dilated Cardiomyopathy (DCM), especially the genetic subtype dilated cardiomyopathy 1H (DCM1H), lifestyle recommendations generally include:
1. **Regular Physical Activity:** Engage in moderate exercise as recommended by a healthcare provider. High-intensity activities and competitive sports may need to be avoided.
2. **Dietary Modifications:** Adopt a heart-healthy diet rich in fruits, vegetables, whole grains, lean proteins, and low in saturated fats, trans fats, salt, and added sugars.
3. **Weight Management:** Maintain a healthy weight to reduce the burden on the heart.
4. **Alcohol and Tobacco:** Limit alcohol intake and avoid smoking or using tobacco products.
5. **Stress Management:** Practice stress-reducing techniques such as mindfulness, meditation, or yoga.
6. **Medications:** Adhere to prescribed medications and regularly follow up with healthcare providers to manage the condition effectively.
7. **Monitor Symptoms:** Keep track of symptoms and report any worsening signs such as shortness of breath, swelling, or fatigue to a healthcare provider.
No actionable information related to "nan" is provided for DCM1H. Regular consultations with healthcare professionals for personalized guidance are crucial. - Medication
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In the context of dilated cardiomyopathy type 1H (DCM1H), medications typically used for managing the condition include:
1. **Angiotensin-Converting Enzyme (ACE) Inhibitors**: Such as lisinopril or enalapril. These help to relax blood vessels and reduce the workload on the heart.
2. **Beta-Blockers**: Such as carvedilol or metoprolol. These reduce heart rate and blood pressure, decreasing the heart's demand for oxygen.
3. **Diuretics**: Such as furosemide. These help remove excess fluid from the body, alleviating symptoms like swelling and congestion.
4. **Aldosterone Antagonists**: Such as spironolactone. These can help to reduce fluid buildup and have beneficial effects on heart remodeling.
5. **Anticoagulants**: If there is a risk of blood clots, medications like warfarin or newer oral anticoagulants (NOACs) may be prescribed.
The exact choice of medications may vary based on individual patient factors and the specific characteristics of their condition. Always consult a healthcare professional for personalized medical advice. - Repurposable Drugs
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Dilated cardiomyopathy type 1H (DCM1H) is a genetic form of dilated cardiomyopathy. While specific drugs for DCM1H are still under research, some existing medications used for general dilated cardiomyopathy might be repurposable. These include:
1. **Angiotensin-converting enzyme (ACE) inhibitors**: Such as enalapril or lisinopril, which help reduce the workload on the heart.
2. **Beta-blockers**: Such as metoprolol or carvedilol, which can help reduce heart rate and improve heart function.
3. **Diuretics**: Such as furosemide, to help reduce fluid buildup in the body.
4. **Aldosterone antagonists**: Such as spironolactone, which help prevent harmful effects of aldosterone on the heart.
5. **Angiotensin II receptor blockers (ARBs)**: Such as losartan, for patients who can't tolerate ACE inhibitors.
6. **Sacubitril/valsartan**: A combination drug that can improve heart function and outcomes in certain heart failure patients.
These drugs target the symptoms and progression of heart failure in dilated cardiomyopathy, though ongoing research may reveal more specific treatments for DCM1H. Always consult with a healthcare provider for tailored medical advice. - Metabolites
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Dilated cardiomyopathy type 1H (DCM1H) is a subtype of dilated cardiomyopathy, a condition characterized by the enlargement and impaired contraction of the left ventricle of the heart. The term "nan" appears unclear in this context, so I'll provide information relevant to metabolites associated with dilated cardiomyopathy.
In dilated cardiomyopathy, metabolic alterations are common. Some of the key metabolites involved include:
1. **Glucose**: Altered glucose metabolism is often observed in DCM, with a shift from fatty acid oxidation to glucose utilization due to impaired mitochondrial function.
2. **Fatty Acids**: There is a reduced ability to oxidize fatty acids, which leads to lipid accumulation within the myocardium.
3. **Lactic Acid**: Increased lactic acid production may occur due to a higher reliance on anaerobic glycolysis.
4. **Amino Acids**: Imbalances in amino acid metabolism are also reported, including changes in levels of branched-chain amino acids.
Metabolomics studies in DCM can provide deeper insights into these metabolic changes, offering potential biomarkers for diagnosis and targets for treatment. - Nutraceuticals
- For dilated cardiomyopathy (DCM), nutraceuticals are sometimes considered to support heart health, though they are not a primary treatment. Coenzyme Q10 (CoQ10), L-carnitine, taurine, and omega-3 fatty acids are among the nutraceuticals that may be recommended adjunctively. A healthcare provider should be consulted before starting any supplement regimen, as nutraceuticals can interact with medications or underlying conditions.
- Peptides
- Dilated cardiomyopathy 1H (DCM1H) is a genetic condition where mutations in specific genes, often those coding for structural or functional proteins of the heart muscle, lead to weakened and enlarged heart chambers. It is not clear what you mean by "peptides, nan." If you are inquiring about peptide-based treatments or nanotechnology applications for DCM1H, these are areas of ongoing research. Peptide therapies could potentially target specific molecular pathways involved in the disease, while nanotechnology might offer innovative approaches for drug delivery or diagnostic imaging. Current standard treatments mainly include medications to manage symptoms and devices like pacemakers or defibrillators for severe cases.