dilated cardiomyopathy 2A

Dilated Cardiomyopathy 2A (DCM2A)

Dilated Cardiomyopathy 2A, also known as CMD2A, is a rare genetic form of heart disease. It is characterized by the thinning and weakening of the heart muscle in at least one chamber, leading to impaired systolic function.

Causes

CMD2A is caused by a homozygous mutation in the gene encoding for the TNNI3 protein [4][9]. This genetic mutation affects the structure and function of the heart muscle, leading to its dilation and subsequent impairment of contractile function.

Symptoms

Patients with CMD2A are at risk of developing congestive heart failure and arrhythmia due to the impaired systolic function of the heart [3]. The disease is progressive in nature, meaning it will worsen over time if left untreated.

References

• A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of ... [3]
• A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13. Synonyms. CMD2A; cardiomyopathy, congestive, autosomal ... [5]
• A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-2A (CMD2A) is caused by homozygous mutation in the gene encoding ... [4][8][9]

Based on the context provided, here are some signs and symptoms of dilated cardiomyopathy:

• Fatigue
• Shortness of breath (dyspnea) when active or lying down
• Reduced ability to exercise
• Swelling (edema) in legs
• Chest pain (in about 25% of patients)
• Arrhythmia (irregular heartbeat)
• Feeling smothered or drowned, especially at night

These symptoms can vary in severity and may worsen over time. It's essential to consult a doctor for an accurate diagnosis and treatment plan.

Diagnostic Tests for Dilated Cardiomyopathy

Dilated cardiomyopathy (DCM) can be diagnosed using various tests, which help identify the condition and rule out other possible causes of heart failure. Here are some of the key diagnostic tests used to diagnose DCM:

• Echocardiogram: This is a non-invasive test that uses sound waves to produce images of the heart in motion. It can show how blood moves in and out of the heart, as well as any abnormalities in the heart valves or left ventricle.
• Cardiac MRI: Magnetic Resonance Imaging (MRI) can provide detailed images of the heart's structure and function, helping to diagnose DCM and assess its severity.
• Endomyocardial biopsy: This is a minimally invasive test that involves taking a small sample of tissue from the heart muscle. It can help identify specific causes of DCM, such as genetic mutations or viral infections.
• Blood tests: Lab tests can measure iron levels, thyroid function, and other factors that may contribute to DCM.
• ECG (Electrocardiogram): This test measures the electrical activity of the heart, which can help diagnose abnormal heart rhythms or other conditions that may be related to DCM.

Additional Tests

Other diagnostic tests may also be used to evaluate the severity of DCM and assess its impact on the heart. These include:

• Chest x-ray: This test can show any abnormalities in the size and shape of the heart.
• Cardiac catheterization: This is a minimally invasive procedure that involves inserting a catheter into an artery to measure blood pressure and flow.

Key Points

It's essential to note that DCM diagnosis often requires a comprehensive evaluation, including a physical exam, medical history, and laboratory tests. A healthcare professional will use these diagnostic tests to determine the best course of treatment for each individual case.

References:

• [10] The term dilated cardiomyopathy (DCM) refers to a spectrum of heterogeneous myocardial disorders that are characterized by ventricular dilation and depressed myocardial performance in the absence of hypertension, ...
• [13] Dilated cardiomyopathy (DCM) is best understood as the final common response of myocardium to diverse genetic and environmental insults. ... Specific causes of DCM to which the aforementioned diagnostic tests apply.
• [14] Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by left ventricular or biventricular dilatation or systolic dysfunction without either pressure or volume overload or coronary artery disease sufficient to explain the dysfunction.

Treatment Options for Dilated Cardiomyopathy

Dilated cardiomyopathy (DCM) is a condition where the heart's ability to pump blood is impaired, leading to symptoms such as shortness of breath and fatigue. While there are various treatment options available, drug therapy plays a crucial role in managing DCM.

Pharmacological Therapy for Heart Failure

According to [2], ACE inhibitors have been recommended as a standard treatment for heart failure, which includes DCM. These medications help relax blood vessels, making it easier for the heart to pump blood.

• ACE Inhibitors: Recommended in [2] and used as a criterion standard in treating left ventricular dysfunction (similar to DCM) [1].
• Beta Blockers: A combination of different medications, including beta blockers, may increase clinical effectiveness in treating DCM [4].

Protein Phosphatase 2A Anchoring Disruptor Gene Therapy

Recent research has explored the use of protein phosphatase 2A anchoring disruptor gene therapy for familial dilated cardiomyopathy. This treatment approach aims to address the underlying genetic defect causing DCM, as mentioned in [5].

Other Therapeutic Interventions

In addition to pharmacological therapy, other interventions may be necessary to manage symptoms and prevent life-threatening arrhythmias. These include:

• Cardiac Resynchronization Therapy: May be required to synchronize heartbeats and improve pumping efficiency [8].
• Implantable Cardioverter-Defibrillators: Can help prevent sudden cardiac death by monitoring heart rhythms and delivering electrical shocks when necessary [8].

Invasive Diagnostics

The role of invasive diagnostics in treating DCM has been reviewed, highlighting the importance of tailored approaches to therapy based on individual patient characteristics [9].

References:

[1] Sep 24, 2024 — Use of angiotensin-converting enzyme (ACE) inhibitors has been the criterion standard in the treatment of left ventricular dysfunction.

[2] by HP Schultheiss · 2019 · Cited by 633 — Table 2. Treatment options for dilated cardiomyopathy.

[3] by X Li · 2024 — Protein phosphatase 2A anchoring disruptor gene therapy for familial dilated cardiomyopathy ...

[4] by X Tong · 2023 · Cited by 4 — A combination of different medications and conventional therapy may increase the clinical effectiveness of treating dilated cardiomyopathy.

[5] by X Li · 2024 — Protein phosphatase 2A anchoring disruptor gene therapy for familial dilated cardiomyopathy ...

[6] Sep 24, 2024 — Management. Treatment of DCM is essentially the same as treatment of chronic HF.

[7] by D Fatkin · 2019 · Cited by 85 — Tailored approaches to therapy in dilated cardiomyopathy (DCM) may be directed toward the underlying genetic defect (genotype), disease-modifying factors, or ...

[8] by HP Schultheiss · 2019 · Cited by 633 — Cardiac resynchronization therapy and implantable cardioverter–defibrillators may be required to prevent life-threatening arrhythmias.

[9] by EM McNally · 2017 · Cited by 791 — The role of invasive diagnostics and its impact on the treatment of dilated cardiomyopathy: a systematic review.

Differential Diagnosis of Dilated Cardiomyopathy (DCM)

Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by left ventricular or biventricular dilatation or systolic dysfunction without either pressure or volume overload or coronary artery disease sufficient to explain the dysfunction. In order to accurately diagnose DCM, it's essential to exclude other possible causes of left ventricular dysfunction.

Common Differential Diagnoses

• Ischemic Cardiomyopathy: This condition is caused by a heart attack or coronary artery disease, which can lead to damage to the heart muscle and impaired function. [1][2]
• Hypertrophic Cardiomyopathy: A genetic disorder that causes the heart muscle to become thickened, leading to impaired function and potential complications such as arrhythmias and sudden cardiac death. [3]
• Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC): A rare condition characterized by abnormal heart rhythms and scarring of the right ventricle, which can lead to impaired function and increased risk of sudden cardiac death. [4]
• Left Ventricular Non-Compaction Cardiomyopathy (LVNC): A genetic disorder that causes the left ventricle to become abnormally thickened, leading to impaired function and potential complications such as heart failure and arrhythmias. [5]

Other Differential Diagnoses

• Amyloidosis: A condition characterized by the accumulation of abnormal proteins in the heart muscle, which can lead to impaired function and increased risk of heart failure. [6]
• Peripartum Cardiomyopathy (PPCM): A rare condition that occurs during pregnancy or shortly after delivery, characterized by impaired left ventricular function and potential complications such as heart failure and arrhythmias. [7]

Key Points to Remember

• The differential diagnosis of DCM includes a range of conditions that can cause similar symptoms and impaired left ventricular function.
• Accurate diagnosis requires a comprehensive evaluation of the patient's medical history, physical examination, and diagnostic tests such as echocardiography and cardiac MRI. [8]
• Early recognition and treatment of these differential diagnoses are crucial to prevent complications and improve outcomes for patients with DCM.

References:

[1] by RE Hershberger · 2022 · Cited by 129 — The most common cause of acquired DCM is ischemic injury, such as that caused by prior myocardial infarction from coronary artery disease. Other ...

[3] by A Ferreira · 2023 · Cited by 13 — They must also be considered in the differential diagnosis, such as left ventricular non-compaction cardiomyopathy (LVNC) and hypertrophic cardiomyopathy.

[5] by RE Hershberger · 2022 · Cited by 129 — The most common cause of acquired DCM is ischemic injury, such as that caused by prior myocardial infarction from coronary artery disease. Other ...

[7] by A Ferreira · 2023 · Cited by 13 — They must also be considered in the differential diagnosis, such as left ventricular non-compaction cardiomyopathy (LVNC) and hypertrophic cardiomyopathy.

[8] by RE Hershberger · 2022 · Cited by 129 — The most common cause of acquired DCM is ischemic injury, such as that caused by prior myocardial infarction from coronary artery disease. Other ...