Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families.
Why the study?
Do revised diagnostic criteria incorporating symptoms, ECG, and minor echocardiographic abnormalities improve the identification of hypertrophic cardiomyopathy in adult members of affected families compared to conventional echocardiographic criteria?
Population
Adult members of families affected by hypertrophic cardiomyopathy
Comparison
Revised diagnostic criteria including major and… vs Conventional echocardiographic criteria
Design
Guideline
Authors
Discussion
Loading...
Member takes
Implication
Supports expanded HCM screening with ECG/symptoms in families; extends diagnosis beyond echocardiography alone.
Key Points
- This research aims to propose revised diagnostic criteria for hypertrophic cardiomyopathy in adults from affected families, based on a more comprehensive evaluation.
- Evaluated the prevalence and clinical criteria of hypertrophic cardiomyopathy in family pedigrees.
- Analyzed symptoms, electrocardiographic alterations, and echocardiographic findings.
- Proposed major and minor diagnostic criteria to detect gene carriers more effectively.
- Up to 20% of adults with a genetic defect did not meet conventional echocardiographic criteria but exhibited symptoms.
- Most individuals showed electrocardiographic alterations or minor echocardiographic abnormalities.
- Revised criteria increase the likelihood of identifying affected individuals in hypertrophic cardiomyopathy families.
Structured PICO
Do revised diagnostic criteria incorporating symptoms, ECG, and minor echocardiographic abnormalities improve the identification of hypertrophic cardiomyopathy in adult members of affected families compared to conventional echocardiographic criteria?
P
Population
Adult members of families affected by hypertrophic cardiomyopathy
I
Intervention
Revised diagnostic criteria including major and minor criteria based on symptoms, electrocardiographic, and echocardiographic abnormalities
C
Comparator
Conventional echocardiographic criteria (unexplained left ventricular hypertrophy)
O
Outcome
Identification/diagnosis of hypertrophic cardiomyopathy in gene carriers
Revised diagnostic criteria incorporating symptoms, ECG, and minor echocardiographic abnormalities are proposed to improve the diagnosis of hypertrophic cardiomyopathy in adult relatives of affected patients, as up to 20% of gene carriers lack conventional echocardiographic left ventricular hypertrophy.
Cite This Study
McKenna et al. (1997) conducted a review in Hypertrophic cardiomyopathy. Revised diagnostic criteria vs. Conventional echocardiographic criteria was evaluated. Up to 20% of adults carrying a hypertrophic cardiomyopathy gene defect do not fulfill conventional echocardiographic criteria, prompting the proposal of revised diagnostic criteria.