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- Title
Contemporary family screening in hypertrophic cardiomyopathy: the role of cardiovascular magnetic resonance.
- Authors
Huurman, Roy; van der Velde, Nikki; Schinkel, Arend F L; Hassing, H Carlijne; Budde, Ricardo P J; Slegtenhorst, Marjon A van; Verhagen, Judith M A; Hirsch, Alexander; Michels, Michelle
- Abstract
Aims Genetic testing in relatives of hypertrophic cardiomyopathy (HCM) patients leads to early identification of pathogenic DNA variant carriers (G+), before the onset of left ventricular hypertrophy. Routine phenotyping consists of electrocardiography (ECG) and transthoracic echocardiography (TTE). Cardiovascular magnetic resonance (CMR) has become valuable in the work-up of HCM. In this study, we investigated the value of CMR in phenotyping of G+ family members. Methods and results This study included 91 G+ subjects who underwent ECG, TTE and CMR, with a maximal wall thickness (MWT) <15 mm on TTE. The relative performance of TTE and CMR regarding wall thickness measurements and HCM diagnoses was assessed. HCM was defined as MWT of ≥13 mm. Logistic regression was performed to assess whether ECG and TTE parameters can predict CMR results. Most subjects (75%) had an MWT <13 mm on TTE, of which 23 (34%) were diagnosed with HCM based on CMR. MWT differences (range 1–10 mm) were often caused by an anterobasal hook-shaped thickening of the myocardium not visible on TTE. Two of 23 (9%) subjects with HCM on TTE were reclassified as no HCM on CMR. Normal ECG and TTE results almost excluded reclassifications by CMR. The prevalence of other HCM-related abnormalities on CMR was low. Conclusion CMR reclassified 27% of subjects. Subjects with normal ECG/TTE results were reclassified in a low number of cases, justifying screening with ECG and TTE in G+ relatives. In subjects with abnormal ECGs and/or poor TTE image quality, CMR is indicated.
- Subjects
HEART anatomy; FAMILY assessment; CARDIAC hypertrophy; MEDICAL screening; MAGNETIC resonance imaging; LOGISTIC regression analysis; CARDIOVASCULAR disease diagnosis; PHENOTYPES
- Publication
European Heart Journal - Cardiovascular Imaging, 2022, Vol 23, Issue 9, p1144
- ISSN
2047-2404
- Publication type
Article
- DOI
10.1093/ehjci/jeac099