Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

277
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...
277
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

329
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,...
329
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

389
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...
389
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

347
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...
347
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

8.8K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
8.8K
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

638
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
638

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Distinct Serum and Tissue Markers Predict Fibrosis in Crohn's Disease.

Cells·2026
Same author

Clinical significance of isolated periappendiceal red patch in ulcerative colitis: A systematic review, meta-analysis, and meta-regression.

Inflammatory bowel diseases·2026
Same author

Improving After-Hours Echocardiography Communication: A Resident-Led Quality Improvement Project.

Cureus·2026
Same author

Trends and disparities in hepatorenal syndrome related mortality among adults ≥15 years in the United States: A retrospective observational study.

Medicine·2026
Same author

Editorial: New insights into gut microbiota in colorectal cancer.

Frontiers in cellular and infection microbiology·2026
Same author

Managing Acute Severe Ulcerative Colitis in 2025 and Beyond.

Current gastroenterology reports·2026

Related Experiment Video

Updated: Dec 20, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.5K

Lamin A/C Cardiomyopathy with E203K Pathogenic Mutation.

Fahad N Sheikh1, Syed Adeel Hassan2,3, Dilnaz Alam4

  • 1Pathology, Sahiwal Medical College, Sahiwal, PAK.

Cureus
|May 27, 2020
PubMed
Summary
This summary is machine-generated.

Lamin A/C (LMNA) cardiomyopathy, a genetic heart condition, can cause severe rhythm problems and sudden death. Early genetic testing and intervention are crucial for at-risk individuals.

Keywords:
atrioventricular blockcardiomyopathylmnapacemakersudden death

More Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.1K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.1K

Related Experiment Videos

Last Updated: Dec 20, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.5K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.1K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.1K

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Lamin A/C (LMNA) cardiomyopathy is an inherited, progressive heart muscle disease.
  • It commonly presents with conduction defects and is a leading cause of familial dilated cardiomyopathy.

Observation:

  • A 76-year-old female with fatigue and Mobitz type II second-degree atrioventricular (AV) block was evaluated.
  • Her family history included premature sudden deaths and AV block requiring pacemaker implantation.
  • Diagnostic workup revealed mild dilated cardiomyopathy and intermittent bradycardia.

Findings:

  • Genetic testing identified a pathogenic LMNA gene mutation (E203K) consistent with LMNA cardiomyopathy.
  • Sudden death is the primary cause of mortality in LMNA cardiomyopathy.

Implications:

  • Suspecting LMNA cardiomyopathy in patients with arrhythmias and a family history of sudden death is critical.
  • Genetic identification allows for risk stratification and timely interventions, such as pacemaker or defibrillator implantation.
  • Prophylactic implantation of an intracardiac cardioverter-defibrillator was discussed for primary prevention of sudden death.