Introduction to cardiac ion channel disease

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Introduction

Cardiac ion channel diseaseIt refers to a group of hereditary diseases in which mutations in genes encoding the major ion channel subunits of cardiomyocytes lead to abnormal ion channel function. Most have special electrocardiographic findings, clinical features of malignant ventricular arrhythmia and sudden death, without abnormal anatomy of the heart structure, most of which are autosomal dominant or recessive, with a familial tendency or sporadic. Common clinical types include long QT interval syndrome, short QT interval syndrome, Brugada syndrome, catecholamine-sensitive polymorphic ventricular tachycardia. It is diagnosed by genetic testing and can be relieved by medical treatment or surgical treatment.

Basic Information

Cardiac internal medicine common site of the clinic is commonly caused by the common symptoms of gene mutations encoding ion channel subunits. Symptoms of syncope or sudden death are the first manifestations.

Cause

Most of the gene mutations originating from the subunits encoding ion channels have found that more than 1500 gene mutations in at least 26 subtypes can be classified into sodium ion channel disease, potassium channel disease, calcium channel disease, depending on the mutant ion channel. Chloride channel disease, etc.

Clinical manifestation

Usually no angina pectoris, chest tightness, difficulty breathing, etc., usually with syncope or sudden death as the first performance, characterized by no aura symptoms before the attack, mostly in the night sleep state, accompanied by phlegm, slow breathing, difficulty breathing.

an examination

1. Laboratory inspection

Mainly serum ion determination, can have electrolyte disorder performance.

2. Electrocardiogram

Long QT interval syndrome can be characterized by torsades de pointes ventricular tachycardia; short QT interval syndrome is characterized by ST segment almost disappearing, often accompanied by T wave high tip, narrow and asymmetrical, QT interval <300 ms; Lugada syndrome is typically characterized by a descending oblique or saddle-like elevation in the ST segment of the right chest lead.

diagnosis

Based on typical ECG findings, clinical manifestations, and family history, preliminary judgments are needed to confirm the diagnosis.

Differential diagnosis

Attention should be paid to the exclusion of heart rhythm abnormalities related to myocardial ischemia, drug, electrolyte or metabolic abnormalities and poisoning.

treatment

1. General treatment

Get rid of bad habits and so on.

2. medical treatement

The use of β-receptor antagonists and corresponding ion channel blockers may be effective for certain ion channel diseases. Drugs can induce ventricular tachycardia and ventricular fibrillation through different mechanisms, which can be used as an adjuvant treatment for this disease; The corresponding ions are also an effective adjuvant treatment for this disease.

3. Surgical treatment

Implantable cardioverter defibrillators are effective for most cardiac ion channel diseases, and those who are not suitable for implanting defibrillators also have a role in radiofrequency ablation.

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Cardiac ion channel disease

Introduction to cardiac ion channel disease

Introduction Cardiac ion channel disease refers to a group of hereditary diseases in which genetic mutations in the major ion channel subunits of cardiomyocytes cause ion channel dysfunction. Most have special electrocardiographic findings, clinical features of malignant ventricular arrhythmia and sudden death, without abnormal anatomy of the heart structure, most of which are autosomal dominant or recessive, with a familial tendency or sporadic. Common clinical types include long QT interval syndrome, short QT interval syndrome, Brugada syndrome, catecholamine-sensitive polymorphic ventricular tachycardia. It is diagnosed by genetic testing and can be relieved by medical treatment or surgical treatment. Basic information in the Department of Cardiology Department of Cardiac Diseases Common causes of the heart Most of the common causes of the origin of the gene encoding the ion channel subunit unit mutations common symptoms of syncope or sudden death as the first manifestation of the cause mostly derived from genetic mutations encoding ion channel subunits, have found at least More than 1500 gene mutations in 26 subtypes can be classified into sodium ion channel disease, potassium channel disease, calcium channel disease, chloride channel disease, etc. depending on the mutant ion channel. Clinical manifestations usually do not have angina pectoris, chest tightness, difficulty breathing, etc., usually with syncope or sudden death as the first performance, which is characterized by no aura symptoms before the attack, mostly in the nighttime sleep state, accompanied by phlegm, slow breathing, difficulty breathing. Check 1. Laboratory tests are mainly serum ion determination, which can have electrolyte imbalance. 2. The long QT interval syndrome of electrocardiogram can be characterized by torsades de pointes ventricular tachycardia; short QT interval syndrome shows ST segment almost disappearing, often accompanied by T wave high tip, narrow and asymmetrical, QT interval <300 ms; Brugada syndrome is typically characterized by a descending oblique or saddle-like elevation in the ST segment of the right chest lead. The diagnosis is based on typical ECG findings, clinical manifestations, and family history. A genetic test is needed to confirm the diagnosis. Differential diagnosis should pay attention to the exclusion of heart rhythm abnormalities related to myocardial ischemia, drug, electrolyte or metabolic abnormalities and poisoning. Treatment 1. General treatment to get rid of bad habits and so on. 2. Drug therapy with β-receptor antagonists and corresponding ion channel blockers may be effective for certain ion channel diseases. Drugs can induce ventricular tachycardia and ventricular fibrillation through different mechanisms, which can be used as an adjuvant treatment for this disease; Supplementing the corresponding ions is also an effective adjuvant treatment for this disease. 3. Surgical treatment of implantable cardioverter defibrillators is effective for most cardiac ion channel diseases. Radiofrequency ablation is also not suitable for patients who are not suitable for implanting defibrillators.

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