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Ankyrin-B syndrome

Ankyrin-B syndrome



Overview

Ankyrin-B syndrome is an inherited heart rhythm disorder caused by mutations in the ANK2 gene that disrupt electrical signaling in cardiac muscle cells.

It is an autosomal-dominant condition, meaning one copy of the altered gene in each cell is enough to cause the disorder.The ANK2 gene makes the ankyrin-B protein, which acts as an anchor to place ion channels and transporters in the correct spots on heart cell membranes.When mutations cause a loss of function, ion and calcium regulation fails, leading to abnormal heartbeats.

Symptoms

Bradycardia: A resting heart rate that is much too slow.

Sinus arrhythmia: An irregular heartbeat pattern originating from the heart's natural pacemaker.

Atrial fibrillation: Chaotic and uncoordinated electrical signals in the upper chambers of the heart.

Conduction block: Delays or stops in the electrical signals moving between the heart's chambers.

Prolonged QT interval: A delay in how long the heart takes to "recharge" between beats, though this does not happen in every patient.

Catecholaminergic polymorphic ventricular tachycardia (CPVT): A fast, irregular heartbeat triggered by stress, fear, or exercise.

Syncope: Sudden fainting or lightheadedness caused by brief drops in blood flow to the brain.Cardiac arrest: A sudden stop of effective heart pumping.

Sudden death: A high risk of fatal heart events, which can occasionally happen during infancy or young adulthood.

Causes

A genetic mutation creates an altered or missing ankyrin-B protein.

The protein fails to put ion channels in their proper places on the cell membrane.

Even though the cell makes the ion channels, they cannot work correctly if they are not plugged into the membrane.

This loss of working channels disrupts the electrical signals in the heart.

The disruption leads to abnormal heart rhythms, slow heart rates, or other dangerous heart problems

Diagnosis

Genetic Testing: Identifies loss-of-function variants or mutations in the ANK2 gene, which follows an autosomal dominant inheritance pattern.

Electrocardiogram (ECG / EKG): Detects irregular heart rhythms, bradycardia (slow heart rate), sinus arrhythmia, conduction blocks, or a prolonged QT interval.

Holter Monitor / Stress Test: Monitors heart electrical activity over 24 hours or during exercise/stress to catch stress-induced arrhythmias or catecholaminergic polymorphic ventricular tachycardia (CPVT).

Family History: Evaluates relatives for unexplained fainting (syncope), pacemakers, or sudden cardiac death.

Treatment

Avoidance of triggers: Patients are typically advised to avoid strenuous exercise and situations that increase sympathetic tone (adrenaline).

Medication adjustments: Doctors often prescribe the avoidance of any QT-prolonging drugs or specific agents that can trigger arrhythmias.

Beta-blockers: May be considered to blunt sympathetic stimulation, though efficacy varies based on specific variant profiles.

Permanent Pacemaker: Implanted to treat sinus node dysfunction (abnormal slow heart rates).

Implantable Cardioverter-Defibrillator (ICD/AICD): Recommended for patients at high risk of sudden cardiac death or dangerous ventricular arrhythmias like torsades de pointes.

Type of Doctor Department : A Cardiac Electrophysiologist

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