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Screening first-degree relatives of patients with idiopathic dilated cardiomyopathy

Screening der Verwandten ersten Grades von Patienten mit idiopathischer dilatativer Kardiomyopathie

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Abstract

Background

This study evaluated whether subclinical myocardial dysfunction occurs in first-degree relatives of patients with idiopathic dilated cardiomyopathy (IDCM), using strain echocardiographic imaging, before apparent left ventricular (LV) failure is observed.

Patients and methods

The study comprised 77 subjects aged 16–63 years who had first-degree relatives with a previous or new diagnosis of IDCM. LV myocardial deformation parameters of the first-degree relatives with normal LVEF (≥55%) values, as assessed using 2D echocardiography, were evaluated. The findings of the first-degree relatives were compared with an age- and sex-matched control group (n = 86).

Results

No difference in terms of age, gender, and body surface area was detected between first-degree relatives and controls. First-degree relatives of IDCM patients had significantly lower LVEF (62.04 ± 5.8% vs. 65.65 ± 6.3%, p < 0.001) and FS values (39.4 ± 6.6 vs. 41.45 ± 5.5, p = 0.03) compared with the controls. Assessment of LV deformation parameters revealed that LV global longitudinal strain (−17.34 ± 2.19% vs. −19.21 ± 2.16%, p < 0.001) and strain rate (0.94 ± 0.14 s−1 vs. 1.03 ± 0.14 s−1, p < 0.001), radial strain (34.47 ± 9.14% vs 42.79 ± 11.91%, p < 0.001) and strain rate (1.6 ± 0.38 s−1 vs. 1.75 ± 0.29 s−1, p = 0.006), circumferential strain (−6.07 ± 2.83% vs. −18.29 ± 3.39%, p < 0.001) and strain rate (1.09 ± 0.24 s−1 vs. 1.2 ± 0.25 s−1, p = 0.004), and torsion (10.07 ± 5.18o/cm vs. 12.42 ± 5.78o/cm, p = 0.009) were significantly reduced in first-degree relatives compared with controls.

Conclusion

LV deformation parameters are impaired in first-degree relatives of patients with IDCM. Screening of this population using standard 2D echocardiography and strain imaging may provide early detection of those with subclinical myocardial dysfunction.

Zusammenfassung

Hintergrund

In der vorliegenden Studie wurde untersucht, ob bei Verwandten ersten Grades von Patienten mit idiopathischer dilatativer Kardiomyopathie (IDCM) eine subklinische Myokardfunktionsstörung auftritt. Dazu wurde die echokardiographische Deformationsbildgebung („strain imaging“) eingesetzt, bevor eine offensichtliche linkventrikuläre (LV-)Insuffizienz beobachtet wurde.

Patienten und Methoden

An der Studie nahmen 77 Probanden im Alter von 16 bis 63 Jahren teil, die Verwandte ersten Grades mit der früher oder aktuell gestellten Diagnose einer IDCM hatten. Es wurden LV-Myokarddeformationsparameter der Verwandten ersten Grades mit normaler linksventrikulärer Ejektionsfraktion in der 2‑D-Echokardiographie (LVEF ≥55%) untersucht. Die Befunde der Verwandten ersten Grades wurden mit einer nach Alter und Geschlecht entsprechend ausgesuchten Kontrollgruppe verglichen (n = 86).

Ergebnisse

Es wurden keine Unterschiede hinsichtlich Alter, Geschlecht und Körperoberfläche zwischen Verwandten ersten Grades und Kontrollen festgestellt. Verwandte ersten Grades von IDCM-Patienten wiesen signifikant niedrigere Werte für die LVEF (62,04 ± 5,8% vs. 65,65 ± 6,3%; p < 0,001) und die Verkürzungsfraktion (FS, „fractional shortening“; 39,4 ± 6,6 vs. 41,45 ± 5,5; p = 0,03) als die Kontrollen auf. Die Beurteilung der LV-Deformationsparameter ergab, dass die linksventrikuläre longitudinale globale Deformation (−17,34 ± 2,19% vs. −19,21 ± 2,16%; p < 0,001) und Deformationsrate (0,94 ± 0,14 s−1 vs. 1,03 ± 0,14 s−1; p < 0,001), die radiale Deformation (34,47 ± 9,14% vs. 42,79 ± 11,91%; p < 0,001) und Deformationsrate (1,6 ± 0,38 s−1 vs. 1,75 ± 0,29 s−1; p = 0,006), die zirkumferenzielle Deformation (−6,07 ± 2,83% vs. −18,29 ± 3,39%; p < 0,001) und Deformationsrate (1,09 ± 0,24 s−1 vs. 1,2 ± 0,25 s−1; p = 0,004) sowie die Torsion (10,07 ± 5,18o/cm vs. 12,42 ± 5,78o/cm; p = 0,009) bei den Verwandten ersten Grades im Vergleich zu den Kontrollen signifikant vermindert waren.

Schlussfolgerung

Die LV-Deformationsparameter sind bei Verwandten ersten Grades von IDCM-Patienten beeinträchtigt. Das Screening dieser Bevölkerungsgruppe unter Verwendung der Standard-2-D-Echokardiographie und der Deformationsbildgebung könnte die Früherkennung von Personen mit subklinischer Myokardfunktionsstörung ermöglichen.

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Authors and Affiliations

  1. Department of Cardiology, Ege University Faculty of Medicine, Izmir, Turkey

    M. Sefa Okten M.D., S. Kilic M.D., H. Soner Kemal M.D., O. Vuran M.D., B. Yagmur M.D., I. Mutlu M.D., E. Simsek M.D., C. Soydas Cinar M.D. & C. Gurgun M.D.

  2. Department of Cardiology, Tepecik Training and Research Hospital, Izmir, Turkey

    K. Tuluce M.D. & A. Sayin M.D.

  3. Department of Cardiology, Katip Celebi University Ataturk Training and Research Hospital, , Izmir, Turkey

    S. Yakar Tuluce M.D.

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  1. M. Sefa Okten M.D.
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  2. K. Tuluce M.D.
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Correspondence to K. Tuluce M.D..

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Conflict of interest

M. Sefa Okten, K. Tuluce, S. Yakar Tuluce, S. Kilic, H. Soner Kemal, A. Sayin, O. Vuran, B. Yagmur, I. Mutlu, E. Simsek, C. Soydas Cinar, and C. Gurgun declare that they have no competing interests.

All studies on humans described in the present manuscript were carried out with the approval of the responsible ethics committee and in accordance with national law and the Helsinki Declaration of 1975 (in its current, revised form). Informed consent was obtained from all patients included in studies.

Additional information

The results of this study were presented in part at the American College of Cardiology Scientific Sessions, 2014, Washington, DC.

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Sefa Okten, M., Tuluce, K., Yakar Tuluce, S. et al. Screening first-degree relatives of patients with idiopathic dilated cardiomyopathy. Herz 42, 669–676 (2017). https://doi.org/10.1007/s00059-016-4498-1

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  • DOI: https://doi.org/10.1007/s00059-016-4498-1

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