ÖZET
Amaç:
Duchenne musküler distrofi (DMD) ve Becker musküler distrofi (BMD), ilerleyici kalp fonksiyon bozukluğunun da eşlik ettiği nöromusküler hastalıklardır. Bu çalışmada DMD ve BMD’de kardiyak tutulumun erken belirteçlerinin belirlenmesi amaçlanmıştır.
Gereç ve Yöntem:
Moleküler genetik tanı yöntemleri ile distrofin geninde hastalık nedeni mutasyon tespit edilmiş 26 DMD-BMD hastası ve 44 sağlıklı kontrol çalışmaya dahil edildi. Yaş uyumlu sağlıklı kontroller rutin spor lisans muayenesi için başvuranlar arasından seçildi. Tüm katılımcıların elektrokardiyografi (EKG) (Kalp hızı, V1R/S, QT, QRS-T açısı, ventriküler repolarizasyon heterojenliği ile ilişkili parametreler), ekokardiyografi (EKO) (ejeksiyon fraksiyonu, fraksiyonel kısalma, erken ve geç diyastolik tepe velosite, tricuspid annular plane systolic excursion) ve mevcut kalp hızı değişkenliği (KHD) (SDNN, SDANN, SDNN index, Rmssd, pNN50) ölçümleri geriye dönük olarak kaydedilerek hasta ve kontrol grubu karşılaştırıldı. Ayrıca hasta grubu “ambulatuvar” ve “non-ambulatuvar” olarak yeniden gruplandırıldı ve kardiyak parametreler bu alt gruplar arasında da kıyaslandı.
Bulgular:
EKG verilerinden hasta grubunda kontrollere göre PR daha kısa, V1R/S yüksek bulundu (p<0,003, p<0,01). Kalp hızı, Holter monitorizasyonu ile hasta grubunda yüksek saptandı (p<0,01). EKO verilerinde her iki grup arasında fark saptanmadı. KHD verileri kıyaslandığında parametreler ambulatuar grupta non-ambulatuvar gruba kıyasla daha düşüktü (p<0,05).
Sonuç:
Bu çalışmada, distrofinopatilerde EKG ve KHD’de benzer yaştaki sağlıklı kontrollere göre anlamlı değişiklikler gösterilmiştir. Elektriksel anormallikler, kardiyak disfonksiyon gelişiminde histopatolojik sürecin en erken belirtisi olabilir.
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