Dismorfik bulguları olan çocuklarda kardiyak değerlendirme
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Tarih
2024
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info:eu-repo/semantics/openAccess
Özet
Dismorfik çocuk; doğuştan gelen normalden farklı fiziksel özelliklere sahip çocuk anlamına gelir. Genetik anormallikler, doğum öncesi enfeksiyonlar, doğum travması gibi bazı nedenlerle dismorfik özellikler ortaya çıkabilir. Dismorfik özellikler çoğu zaman bir sendromun işaretçisidir. Kardiyovasküler anomaliler izole şekilde ya da iyi tanımlanmış genetik sendromun parçası olarak görülebilmektedir. Bu çalışmada dismorfik bulguları olan çocuklar etyolojik olarak araştırılırken ileri kardiyak değerlendirmelerini yaptık. Dismorfik bulguları olan çocuklarda eşlik edebilecek kardiyak sorunları ortaya koymayı amaçladık. Çalışmaya dismorfik bulguları olan daha önce kardiyak açıdan ileri inceleme yapılmamış ve genetik açıdan araştırılmamış 18 yaşın altında 67 hasta dahil edildi. Bazı demografik bilgiler, fizik muayene bulguları, elektrokardiyografi (EKG) ve ekokardiyografi (EKO) verileri, varsa sonuçlanan genetik tahlilleri incelendi. Hastaların 22'si (%32,8) kız, 45'i (%67,2) erkek ve yaş ortalaması 4 yaş 10 ay (ortanca yaş 3 yaş 3 ay) idi. Hastaların 38'inin (%56,7) nörolojik gelişim basamakları normalken 29'unun (%43,3) gecikmiş olarak saptandı. Hastaların değerlendirildiği, verilerin toplandığı süreçte 13 (%19,4) hastaya genetik olarak tanı kondu. Hastaların EKG değerlendirmesinde anlamlı bulgu saptanmazken, yapılan EKO sonucunun 31 (%46,2) hastada normal, 36 (%53,8) hastada anormal olduğu saptandı. Hastalardaki dismorfik bulgu varlığı ile konjenital kalp hastalığının ilişkili olduğu tespit edildi. Tamamında dismorfik bulgu olan hastaların yarısından fazlasında kardiyak anomali olduğu bulundu. Literatürle uyumlu olarak orofasiyal bölgedeki dismorfik bulgu varlığı ile kardiyak anomali arasında anlamlı ilişki saptandı.
Dysmorphic child; it means a child with different from normal physical characteristics from birth. Dysmorphic features may occur for some reasons such as genetic abnormalities, prenatal infections, and birth trauma. Dysmorphic features are often indicative of a syndrome. Cardiovascular anomalies can occur in isolation or as a component of a well-defined genetic syndrome. In this study, we performed advanced cardiac evaluations while investigating the etiology of children with dysmorphic findings. We aimed to reveal the cardiac problems that may accompany children with dysmorphic findings. Sixty seven patients under the age of 18 with dysmorphic findings, who had not previously undergone further cardiac examination and who had not been genetically investigated, were included in the study. Some demographic information, physical examination findings, electrocardiography (ECG) and echocardiography (ECHO) data, and the resulting genetic tests, if any, were examined. Twenty two (32.8%) of the patients were girls, 45 (67.2%) were boys, and the average age was 4 years 10 months (median age 3 years 3 months). While the neurological developmental stages of 38 (56.7%) of the patients were normal, 29 (43.3%) were found to be delayed. During the period when the patients were evaluated and data were collected, 13 (19.4%) patients were diagnosed genetically. While no significant findings were detected in the ECG evaluation of the patients, the ECHO results were found to be normal in 31 (46.2%) patients and abnormal in 36 (53.8%) patients. It was determined that the presence of dysmorphic findings in the patients was associated with congenital heart disease. More than half of the patients, all of whom had dysmorphic findings, were found to have cardiac anomalies. Consistent with the literature, a significant relationship was found between the presence of dysmorphic findings in the orofacial region and cardiac anomaly.
Dysmorphic child; it means a child with different from normal physical characteristics from birth. Dysmorphic features may occur for some reasons such as genetic abnormalities, prenatal infections, and birth trauma. Dysmorphic features are often indicative of a syndrome. Cardiovascular anomalies can occur in isolation or as a component of a well-defined genetic syndrome. In this study, we performed advanced cardiac evaluations while investigating the etiology of children with dysmorphic findings. We aimed to reveal the cardiac problems that may accompany children with dysmorphic findings. Sixty seven patients under the age of 18 with dysmorphic findings, who had not previously undergone further cardiac examination and who had not been genetically investigated, were included in the study. Some demographic information, physical examination findings, electrocardiography (ECG) and echocardiography (ECHO) data, and the resulting genetic tests, if any, were examined. Twenty two (32.8%) of the patients were girls, 45 (67.2%) were boys, and the average age was 4 years 10 months (median age 3 years 3 months). While the neurological developmental stages of 38 (56.7%) of the patients were normal, 29 (43.3%) were found to be delayed. During the period when the patients were evaluated and data were collected, 13 (19.4%) patients were diagnosed genetically. While no significant findings were detected in the ECG evaluation of the patients, the ECHO results were found to be normal in 31 (46.2%) patients and abnormal in 36 (53.8%) patients. It was determined that the presence of dysmorphic findings in the patients was associated with congenital heart disease. More than half of the patients, all of whom had dysmorphic findings, were found to have cardiac anomalies. Consistent with the literature, a significant relationship was found between the presence of dysmorphic findings in the orofacial region and cardiac anomaly.
Açıklama
Anahtar Kelimeler
Dismorfizm, konjenital kalp hastalıkları, kraniyofasiyal anomaliler, ekokardiyografi, genetik bozukluklar, Dysmorphic child, Congenital heart defects, Craniofacial abnormalities, Echocardiography, Genetic disorders
Kaynak
WoS Q Değeri
Scopus Q Değeri
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Künye
Özdemir, H. S. (2024). Dismorfik bulguları olan çocuklarda kardiyak değerlendirme. (Yayınlanmamış tıpta uzmanlık tezi) Necmettin Erbakan Üniversitesi, Tıp Fakültesi Dahili Tıp Bilimleri Bölümü Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Konya.
