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Published on: August 8, 2022
Family screening in hypertrophic cardiomyopathy is underperformed, but can be improved by a specialised clinic
A Olaussen1, A Beale, I Macciocca
1HCM Clinic @ The Alfred, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia; Monash University, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.
Insights
Screening first-degree relatives (FDR) for hypertrophic cardiomyopathy (HCM) is underperformed. A specialized HCM clinic significantly improved screening rates, identifying new cases and reducing missed diagnoses.
Area of Science:
- Cardiology
- Genetics
- Preventive Medicine
Background:
- Hypertrophic cardiomyopathy (HCM) is a genetic condition leading to significant morbidity and sudden cardiac death.
- Autosomal dominant inheritance places first-degree relatives (FDR) at high risk.
- Current guidelines mandate clinical screening, including echocardiography, for all FDR.
Purpose of the Study:
- To assess adherence to recommended screening guidelines for FDR of HCM patients.
- To evaluate the impact of a specialized HCM clinic on screening rates.
Main Methods:
- A 12-month prospective follow-up study was conducted.
- Family pedigrees were obtained from HCM patients referred to a specialized clinic.
- Screening rates of FDR were recorded before and after a coordinated clinic-based approach.
Main Results:
- 308 living FDR of 61 HCM patients were identified; only 26% had prior echocardiography.
- The specialized clinic approach led to a 64% improvement in FDR screening.
- 8 new cases of HCM were identified among the additionally screened FDR.
Conclusions:
- Adherence to recommended family screening for HCM is suboptimal, leading to missed subclinical diagnoses.
- A coordinated screening strategy via a specialized HCM clinic enhances detection rates.
- Referral to specialized HCM services is recommended for patients and their families.
Background:
Hypertrophic cardiomyopathy (HCM) causes significant morbidity and sudden death. First-degree relatives (FDR) of affected patients are at risk due to autosomal dominant inheritance. Guidelines recommend clinical screening, including echocardiography, for all FDR.
Aim:
We sought to determine adherence to these guidelines, and whether a specialised HCM clinic improves screening rates.
Method:
This 12-month prospective follow-up study obtained family pedigrees from all patients referred to the HCM Clinic @ The Alfred. The number of living FDR was determined, and whether they had previously been assessed by echocardiography. One year after a coordinated clinic-based family screening approach was instituted, the number of additionally screened FDR was recorded.
Results:
Three hundred and eight living FDR of 61 HCM patients were identified. Of these, echocardiography had previously been performed in only 80 (26%), yielding 13 (16%) additional cases of HCM. Twelve months after attendance at our clinic, 51 additional FDR were screened (64% improvement) and 8 new cases of HCM were identified.
Conclusions:
Recommended family screening for HCM is underperformed, resulting in missed opportunities to detect subclinical HCM. A coordinated approach through a specialised HCM clinic improves screening rates, thus referral to such a service should be considered for all patients with HCM and their families.
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