Related Experiment Video
Updated: Dec 28, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Familial Hypertrophic Cardiomyopathy: Late Potentials and Other Prognostic Markers
Ândrea Chaves-Markman1, Manuel Markman2, Marcelo Antônio O Santos-Veloso3
1Cardiology, Rarus - A Rare Disease Service, Recife, BES.
Insights
This study found no link between late potentials and a family history of sudden death, syncope, or arrhythmias in hypertrophic cardiomyopathy patients. These findings are crucial for understanding hypertrophic cardiomyopathy risks.
Area of Science:
- Cardiology
- Genetics
- Sudden Cardiac Death
Background:
- Familial hypertrophic cardiomyopathy (HCM) is a genetic disorder and a leading cause of sudden cardiac death (SCD) in young adults, particularly athletes.
- HCM diagnosis relies on echocardiogram criteria, but risk stratification for adverse events remains critical.
Purpose of the Study:
- To investigate the association between late potentials and a family history of SCD, syncope, and complex ventricular arrhythmias in patients with HCM.
- To identify potential predictors of adverse cardiac events in HCM patients.
Main Methods:
- A case series study involving 22 patients diagnosed with HCM via transthoracic echocardiogram.
- Exclusion criteria included pacemaker use, right bundle branch block, cardiac transplant, and inability to undergo examinations.
- Data collected included type of hypertrophy, family history, and presence of late potentials and arrhythmias.
Main Results:
- Asymmetric septal hypertrophy was the most common type (73%) in the study cohort.
- A significant proportion of patients had a positive family history: 63% for HCM, 55% for SCD, and 23% for syncope.
- Late potentials were detected in 23% of patients, and complex ventricular arrhythmias in 14%.
Conclusions:
- The presence of late potentials was not statistically associated with a family history of SCD, syncope, or complex ventricular arrhythmias in this cohort of HCM patients.
- Further research is needed to elucidate the prognostic value of late potentials in HCM and their relationship with genetic predisposition and clinical events.
Abstract:
Familial hypertrophic cardiomyopathy is an autosomal dominant genetic disease considered the most common cause of sudden cardiac death in individuals under 35 years old, especially the athletes. This study aimed to investigate the association between the presence of late potentials and a family history of sudden death, syncope, and complex ventricular arrhythmias on patients with hypertrophic cardiomyopathy. A case series study was carried out from March 2001 to December 2002, including 22 patients with hypertrophic cardiomyopathy according to transthoracic echocardiogram criteria. Patients on a cardiac pacemaker, right bundle branch block, cardiac transplant, and under no possibilities to realize the exams were excluded. The results showed that asymmetric septal hypertrophy was the most common type (73%), 63% had a positive familial history of hypertrophic cardiomyopathy, 55% sudden cardiac death, and 23% syncope. Also, complex ventricular arrhythmias were detected in 14% and late potentials in 23% of patients. According to this study, the presence of late potentials was not associated with familial sudden death, syncope, and complex ventricular arrhythmias.
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Cardiomyopathy II: Dilated Cardiomyopathy
Cardiomyopathy V: Interprofessional Care
Cardiomyopathy I: Introduction and Classification
Mitral Stenosis II: Clinical features and Diagnostic Tests
Cardiomyopathy IV: Restrictive Cardiomyopathy

