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Familial atrial septal defect: a case report in Indonesia Muhammad Gahan Satwiko; Lucia Kris Dinarti; Armalya Pritazahra; Abdul Majid Halim Wiradhika; Muhammad Reyhan Hadwiono; Dyah Wulan Anggrahini; Anggoro Budi Hartopo
Indonesian Journal of Biomedicine and Clinical Sciences Vol 57 No 1 (2025)
Publisher : Published by Universitas Gadjah Mada

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.22146/inajbcs.v57i1.20213

Abstract

Familial atrial septal defect (ASD) is defined as the occurrence of ASD in the first-degree family of the ASD patient. Recently, familial ASD has been increasingly studied. Familial ASD could manifest as an isolated ASD or with other abnormalities. Furthermore, because ASD is usually asymptomatic, it is very difficult to recognize ASD in a first-degree family based only on symptoms. However, if the family was screened using electrocardiography or echocardiography, the occurrence of familial ASD could be found. Therefore, screening plays an important role in detecting familial ASD. We reported an ASD patient with several occurrences of familial ASD. ABSTRAK Atrial septal defect (ASD) familial didefinisikan sebagai terjadinya ASD di keluarga tingkat pertama pada pasien ASD. Studi mengenai ASD familial saat ini telah semakin banyak dilakukan. ASD familial dapat bermanifestasi sebagai ASD yang terisolasi ataupun ASD yang disertai dengan abnormalitas yang lain. Selain itu, karena ASD biasanya asimptomatik, sangat sulit mengenali ASD pada keluarga tingkat pertama hanya berdasarkan gejalanya. Meski demikian, jika keluarga tersebut diperiksa menggunakan elektrokardiografi atau ekokardiografi maka dapat ditemukan terjadinya ASD familial. Oleh karena itu, skrining memegang peranan penting dalam deteksi ASD familial. Kami melaporkan pasien ASD dengan beberapa kejadian ASD familial.