Kim Ho-Sung, Jeong Kumi, Cho Hwa-Jin, Choi Woo-Yeon, Choi Young Earl, Ma Jae Sook, Cho Young Kuk
Department of Pediatrics, Chonnam National University Medical School, Chonnam National University Hospital, Gwangju, Korea.
J Cardiovasc Ultrasound. 2014 Dec;22(4):213-9. doi: 10.4250/jcu.2014.22.4.213. Epub 2014 Dec 26.
Total anomalous pulmonary venous return (TAPVR) is a rare and critical congenital vascular anomaly that requires an early operation. However, initial symptoms of TAPVR may be non-specific, and cardiovascular findings may be minimal. The heart may not be enlarged and there is often no cardiac murmur. Without cardiac murmur, these symptoms are similar to those of respiratory distress syndrome in newborns. Therefore, a high degree of suspicion and an early diagnosis of TAPVR are important. This condition generally occurs without a family history and has a low recurrence rate, but several familial cases, including siblings, have been reported worldwide. Additionally, several chromosomal or gene abnormalities associated with TAPVR have been reported. In the case presented here, two brothers with a 6-year age gap were diagnosed with TAPVR. Surgery was performed without cardiac or neurological complications. This is the first report on TAPVR in siblings in Korea.
完全性肺静脉异位回流（TAPVR）是一种罕见且严重的先天性血管异常，需要早期手术治疗。然而，TAPVR的初始症状可能不具特异性，心血管方面的表现可能很轻微。心脏可能不大，且通常没有心脏杂音。没有心脏杂音时，这些症状与新生儿呼吸窘迫综合征相似。因此，对TAPVR保持高度怀疑并早期诊断很重要。这种情况一般无家族史，复发率低，但全球范围内已报道了几例家族性病例，包括兄弟姐妹患病的情况。此外，还报道了一些与TAPVR相关的染色体或基因异常。在本文所呈现的病例中，两名相差6岁的兄弟被诊断为TAPVR。手术过程中未出现心脏或神经并发症。这是韩国关于兄弟姐妹患TAPVR的首例报告。
