Related Experiment Videos
[Cardiac involvement in neuronal ceroid lipofuscinosis]
Małgorzata Szwoch1, Dagmara Wojtowicz, Karolina Dorniak
1Klinika Kardiologii i Elektroterapii Serca, Uniwersytet Medyczny, Gdańsk. mszwoch@mp.pl.
Kardiologia Polska
|September 20, 2013
Summary
A rare case of neuronal ceroid lipofuscinosis (NCL) presented with neuropsychiatric issues, atrial flagellation, and heart failure in a 58-year-old female. Diagnosis was confirmed via myocardial biopsy.
Area of Science:
- Neurology
- Cardiology
- Genetics
Background:
- Neuronal ceroid lipofuscinosis (NCL) comprises a group of rare, inherited neurodegenerative lysosomal storage diseases.
- While primarily affecting the central nervous system, systemic manifestations can occur.
Observation:
- A 58-year-old female exhibited progressive neuropsychiatric symptoms.
- She subsequently developed recurrent episodes of atrial flagellation and overt heart failure symptoms.
Findings:
- Intraoperative myocardial biopsy was performed for diagnostic evaluation.
- Histopathological analysis of the biopsy confirmed the presence of neuronal ceroid lipofuscinosis.
Implications:
- This case highlights the potential for cardiac involvement in NCL, extending beyond typical neurological presentations.
- Early recognition and diagnosis are crucial for managing systemic manifestations of NCL.
- Further research into cardiac pathology in NCL is warranted.
Related Concept Videos
01:30Cardiomyopathy II: Dilated Cardiomyopathy
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,...
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
01:29Cardiomyopathy IV: Restrictive Cardiomyopathy
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...
01:25Cardiomyopathy I: Introduction and Classification
Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
01:37Neural Regulation
Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
01:22Lysosomal Hydrolases
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...