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Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives
Søren K Nielsen1, Frederikke G Hansen2, Torsten B Rasmussen3
1Department of Cardiology, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark; Department of Cardiology, Lillebaelt Hospital, Vejle, Denmark.
Journal of the American College of Cardiology
|October 25, 2023
Summary
Family screening for hypertrophic cardiomyopathy (HCM) in relatives of patients with normal genetic tests revealed a low frequency of new diagnoses. Affected individuals generally had a favorable prognosis, suggesting value in continued screening.
Area of Science:
- Cardiology
- Genetics
- Preventive Medicine
Background:
- Current guidelines advocate genetic screening for relatives of hypertrophic cardiomyopathy (HCM) index patients.
- The utility of family screening in HCM cases with normal genetic testing for known genes remains unclear.
Purpose of the Study:
- To assess the frequency of familial hypertrophic cardiomyopathy (HCM) among relatives of index patients who underwent normal genetic investigations.
- To characterize the clinical presentation and prognosis of relatives diagnosed with HCM through family screening.
Main Methods:
- Clinical and genetic investigations were conducted on relatives of HCM index patients lacking pathogenic variants in known HCM genes.
- Relatives underwent clinical assessments to identify HCM diagnoses and monitor disease progression over time.
Main Results:
- Among 80% of relatives screened, 5% were diagnosed with HCM at baseline, and 0.3% developed it over 5 years.
- The median age of diagnosis was 57 years, with two-thirds identified via family screening.
- Affected relatives showed a favorable prognosis with no adverse complications and a low risk of sudden cardiac death (SCD).
Conclusions:
- Family screening of HCM index patients with normal genetic results identifies affected relatives at a low frequency.
- These identified relatives typically exhibit a favorable clinical course, supporting the value of systematic screening.
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