Family screening in hypertrophic cardiomyopathy is underperformed, but can be improved by a specialised clinic

Alexander Olaussen, Anna Beale, Ivan Macciocca, Andris Ellims

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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.
Original languageEnglish
Pages (from-to)665 - 670
Number of pages6
JournalInternal Medicine Journal
Issue number7
Publication statusPublished - 2014

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