Mikko Jalanko1, Tiina Heliö2, Pirjo Mustonen3, Jorma Kokkonen3, Heini Huhtala4, Mika Laine2, Pertti Jääskeläinen5, Mika Tarkiainen6, Kirsi Lauerma7, Petri Sipola6, Markku Laakso8, Johanna Kuusisto8, Kjell Nikus9. 1. Heart and Lung Center, Department of Cardiology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland. Electronic address: mikko.jalanko@hus.fi. 2. Heart and Lung Center, Department of Cardiology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland. 3. Central Hospital of Central Finland, Jyväskylä, Finland. 4. Faculty of Social Sciences, University of Tampere, Finland. 5. Heart Center, Kuopio University Hospital, Kuopio, Finland. 6. Department of Radiology, Kuopio University Hospital, Kuopio, Finland. 7. Department of Radiology, Helsinki University Hospital, Helsinki, Finland. 8. Center for Medicine and Clinical Research, University of Eastern Finland and Department of Medicine, Kuopio University Hospital, Kuopio, Finland. 9. Heart Center, Department of Cardiology, Tampere University Hospital, and Faculty of Medicine and Life Sciences, University of Tampere, Finland.
Abstract
OBJECTIVES: The sensitivity and specificity of the conventional 12-lead ECG to identify carriers of hypertrophic cardiomyopathy (HCM) - causing mutations without left ventricular hypertrophy (LVH) has been limited. We assessed the ability of novel electrocardiographic parameters to improve the detection of HCM mutation carriers. METHODS: We studied 140 carriers (G+) of the TPM1-Asp175Asn or MYBPC3-Gln1061X pathogenic variants for HCM: The G+/LVH+ group (n = 98) consisted of mutation carriers with LVH and the G+/LVH- group (n = 42) without LVH. The control group consisted of 30 subjects. The standard 12-lead ECG was comprehensively analyzed and two novel ECG variables were introduced: RV1<RV2>RV3 and septal remodeling. A subset of 65 individuals underwent cardiac magnetic resonance imaging and 2D strain echocardiography. RESULTS: Conventional major ECG criteria were sensitive (90%) and specific (97%) in identifying G+/LVH+ subjects. RV1<RV2>RV3 and septal remodeling were more prevalent in the G+/LVH- subjects compared to the control group (33% vs 3%, p = 0.005 and 45% vs 3%, p < 0.001, respectively). The combination of RV1<RV2>RV3 and Q waves and repolarization abnormalities (QR) differentiated between the G+/LVH- subjects and the control group with a sensitivity of 52% and specificity of 97%. The combination of septal remodeling and QR differentiated between G+/LVH- subjects and the control group with a sensitivity of 64% and specificity of 97%. CONCLUSIONS: The novel ECG-parameters RV1<RV2>RV3 and septal remodeling were effective in identifying G+/LVH- subjects and could be useful in the diagnostics of new suspected HCM patients and in the screening and follow-up of HCM families.
OBJECTIVES: The sensitivity and specificity of the conventional 12-lead ECG to identify carriers of hypertrophic cardiomyopathy (HCM) - causing mutations without left ventricular hypertrophy (LVH) has been limited. We assessed the ability of novel electrocardiographic parameters to improve the detection of HCM mutation carriers. METHODS: We studied 140 carriers (G+) of the TPM1-Asp175Asn or MYBPC3-Gln1061X pathogenic variants for HCM: The G+/LVH+ group (n = 98) consisted of mutation carriers with LVH and the G+/LVH- group (n = 42) without LVH. The control group consisted of 30 subjects. The standard 12-lead ECG was comprehensively analyzed and two novel ECG variables were introduced: RV1<RV2>RV3 and septal remodeling. A subset of 65 individuals underwent cardiac magnetic resonance imaging and 2D strain echocardiography. RESULTS: Conventional major ECG criteria were sensitive (90%) and specific (97%) in identifying G+/LVH+ subjects. RV1<RV2>RV3 and septal remodeling were more prevalent in the G+/LVH- subjects compared to the control group (33% vs 3%, p = 0.005 and 45% vs 3%, p < 0.001, respectively). The combination of RV1<RV2>RV3 and Q waves and repolarization abnormalities (QR) differentiated between the G+/LVH- subjects and the control group with a sensitivity of 52% and specificity of 97%. The combination of septal remodeling and QR differentiated between G+/LVH- subjects and the control group with a sensitivity of 64% and specificity of 97%. CONCLUSIONS: The novel ECG-parameters RV1<RV2>RV3 and septal remodeling were effective in identifying G+/LVH- subjects and could be useful in the diagnostics of new suspected HCM patients and in the screening and follow-up of HCM families.
Authors: Maike Schuldt; Beau van Driel; Sila Algül; Rahana Y Parbhudayal; Daniela Q C M Barge-Schaapveld; Ahmet Güçlü; Mark Jansen; Michelle Michels; Annette F Baas; Mark A van de Wiel; Max Nieuwdorp; Evgeni Levin; Tjeerd Germans; Judith J M Jans; Jolanda van der Velden Journal: Cells Date: 2021-10-29 Impact factor: 6.600