Sabouni Mouhamed Amr, Benedict David, Alom Md Saiful, Petty Stephen, Patel Keyoor
UHS Heart and Vascular Institute, UHS Wilson Medical Center, Johnson City, NY, USA.
UHS Internal Medicine, UHS Wilson Medical Center, Johnson City, NY, USA.
Oxf Med Case Reports. 2018 Sep 24;2018(10):omy076. doi: 10.1093/omcr/omy076. eCollection 2018 Oct.
The frequency of 18q- is estimated to be approximately 1/40 000 live births and is more commonly associated with certain clinical features including short stature, intellectual disability and malformations of many major organ systems. Congenital cardiac abnormalities are present in 24-36% of cases and screening can prove difficult. A 28-year-old Caucasian female with a history of long arm chromosome 18q deletion was evaluated for persistent dyspnea and decreased activity level. Multiple hospitalizations failed to identify the etiology of her symptoms. Initial transthoracic echocardiogram failed to show any underlying cardiac etiology of her symptoms. Multiple recurrent hospitalizations with the same chief complaint. A transesophageal echo (TEE) showed large secundum atrial septal defect (ASD). Successful surgical closure of her large secundum ASD provided significant symptoms relief. The threshold of obtaining TEE should be low in patients with 18q- which permits early recognition and treatment of underlying structural heart disease.
18号染色体长臂缺失（18q-）的发生率估计约为每40000例活产中有1例，且更常与某些临床特征相关，包括身材矮小、智力残疾以及许多主要器官系统的畸形。24%至36%的病例存在先天性心脏异常，筛查可能很困难。一名有18号染色体长臂缺失病史的28岁白人女性因持续呼吸困难和活动水平下降接受评估。多次住院未能明确其症状的病因。最初的经胸超声心动图未显示其症状有任何潜在的心脏病因。因相同主诉多次反复住院。经食管超声心动图（TEE）显示巨大继发孔房间隔缺损（ASD）。成功手术闭合其巨大继发孔ASD后症状明显缓解。对于18q-患者，进行TEE检查的阈值应较低，以便早期识别和治疗潜在的结构性心脏病。
