Related Experiment Video
Updated: Sep 12, 2025
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
8.2K
Atrioventricular Block in a Pompe Disease Patient Receiving Enzyme Replacement Therapy
Kentaro Akagi1, Shiro Baba1, Koichi Matsuda1
1Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
JACC. Case Reports
|August 8, 2025
Summary
Enzyme replacement therapy (ERT) improves outcomes for infantile-onset Pompe disease (IOPD). However, severe complete atrioventricular block (cAVB) is a rare but critical complication in long-term survivors, requiring medical attention.
Area of Science:
- Cardiology
- Genetics
- Pediatric Endocrinology
Background:
- Infantile-onset Pompe disease (IOPD) is a rare, fatal genetic disorder.
- Enzyme replacement therapy (ERT) has significantly improved survival rates for IOPD patients.
Observation:
- A case study of an 18-year-old male with IOPD treated with ERT.
- The patient presented with extreme bradycardia and complete atrioventricular block (cAVB).
Findings:
- ERT is effective in managing IOPD, reducing mortality risk.
- Severe cAVB is identified as a rare but serious complication in long-term IOPD survivors.
Implications:
- Clinicians should be vigilant for cAVB in patients with IOPD receiving ERT.
- Early recognition and management of cAVB are crucial for improving outcomes in long-term IOPD survivors.
Related Concept Videos
01:26Heart Failure Drugs: Inotropic Agents
722
Positive inotropic agents are commonly used as the first line of treatment for heart failure. One such agent is digoxin, derived from the genus Digitalis, which has been known for centuries but effectively utilized since 1785. However, these cardiac glycosides can have potentially toxic effects due to their mechanism of action, which involves inhibiting Na+/K+-ATPase and increasing contractility. Digoxin is absorbed orally and distributed in various tissues, including the CNS. It has a long...
722
01:29Cardiomyopathy IV: Restrictive Cardiomyopathy
31
Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
31
01:30Cardiomyopathy II: Dilated Cardiomyopathy
22
Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
22
01:29Cardiomyopathy V: Interprofessional Care
33
Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
33
01:22Heart Failure Drugs: β-Blockers
434
β-adrenergic antagonists, commonly known as β-blockers, block the effects of sympathetic neurotransmitters such as noradrenaline (NA) and adrenaline (ADR). They have several beneficial effects in heart failure treatment. They reduce heart rate, the force of contraction, and cardiac muscle relaxation. They also slow the atrial-ventricular conduction rate and raise the threshold for arrhythmias. The concentration of β-blockers determines their effects on bronchodilation,...
434
01:19Depolarizing Blockers: Pharmocokinetics
380
Depolarizing blockers are administered through intravenous injection. Succinylcholine is the most common choice of depolarizing blockers in emergency clinical practices. Although they have a rapid onset, they readily diffuse away from the motor end plate into the extracellular fluid. They are metabolized by enzymes such as liver butyrylcholinesterase and plasma pseudocholinesterases. This produces a short duration of action, typically 5-10 minutes long, unlike nondepolarizing blockers, which...
380