Serafin Krzysztof, Nocun Agnieszka A, Kolcz Jacek, Bochenska Agata P, Gasiorowska Emilia, Wiechec Marcin T
Department of Gynecology and Obstetrics, Faculty of Medicine, Jagiellonian University Medical College, Krakow, Poland.
ARS MEDICA Specialist Gynecology and Obstetrics Clinic, Tarnow, Poland.
Cardiovasc Diagn Ther. 2025 Apr 30;15(2):509-521. doi: 10.21037/cdt-24-477. Epub 2025 Apr 17.
Congenital right ventricular aneurysm (CVA) and diverticulum (CVD) are rare heart diseases that can be diagnosed prenatally. Data on the natural progression of ventricular aneurysms or diverticula identified during fetal life remains scarce, with insights primarily derived from a limited number of case reports and case series. This case report aims to highlight the diagnosis, management, and outcomes of a rare right ventricular free wall aneurysm progressing to hypoplastic right heart syndrome (HRHS), utilizing advanced fetal imaging and prenatal therapy. These findings provide valuable perspective on the underlying cause, diagnostic approaches, and treatment strategy for rare cardiac anomaly.
The aneurysm of the right ventricular free wall was diagnosed 13 weeks of gestation during prenatal ultrasound of the fetus in the first trimester. At the time of diagnosis, severe tricuspid valve stenosis with severe tricuspid regurgitation, critical pulmonary stenosis, pericardial effusion, ascites, and secondary flow reversal in the ductus venosus was found. Genetic testing using microarray-based comparative genomic hybridization (aCGH) on amniotic fluid samples showed no genomic imbalance. Digoxin treatment was initiated at 13 weeks of gestation, starting with a loading dose of 1,200 micrograms, followed by a maintenance dose of 375 micrograms daily, to address signs of fetal heart failure. The HQ software was utilized to assess the size and contractility of both the right and left ventricles, focusing on global and segmental strain measurements. The gradual reduction in right ventricular cardiac output led to the progression of HRHS with pulmonary atresia. At 39 weeks of gestation, a female newborn weighing 2,480 g was delivered in good condition, with Apgar scores of 8 and 9 at 1 and 5 minutes, respectively. Prostaglandin E1 treatment was initiated postnatally to maintain ductal patency. Postnatal echocardiography and angio-computed tomography (CT) confirmed the prenatal diagnosis, revealing a right ventricle-to-right coronary artery (RCA) fistula and interruption of RCA perfusion continuity. The newborn underwent successful first-stage palliation with a Blalock-Taussig shunt to establish systemic-pulmonary circulation. Follow-up during the interstage period showed the child remained in good clinical condition, with no significant complications reported.
CVAs are rare but significant anomalies with potential for severe hemodynamic consequences. Multidisciplinary approaches integrating advanced imaging techniques, prenatal counseling, and tailored postnatal management are essential for optimizing outcomes.
先天性右心室动脉瘤（CVA）和憩室（CVD）是罕见的心脏病，可在产前诊断。关于胎儿期发现的心室动脉瘤或憩室的自然进展的数据仍然很少，主要见解来自有限数量的病例报告和病例系列。本病例报告旨在利用先进的胎儿成像和产前治疗，突出罕见的右心室游离壁动脉瘤进展为右心发育不全综合征（HRHS）的诊断、管理和结果。这些发现为罕见心脏异常的潜在原因、诊断方法和治疗策略提供了有价值的观点。
在孕早期对胎儿进行产前超声检查时，于妊娠13周诊断出右心室游离壁动脉瘤。诊断时，发现严重的三尖瓣狭窄伴严重三尖瓣反流、严重肺动脉狭窄、心包积液、腹水以及静脉导管内继发性血流逆转。对羊水样本进行基于微阵列的比较基因组杂交（aCGH）基因检测，未发现基因组失衡。妊娠13周开始使用地高辛治疗，起始负荷剂量为1200微克，随后每日维持剂量为375微克，以应对胎儿心力衰竭的体征。利用HQ软件评估左右心室的大小和收缩性，重点是整体和节段应变测量。右心室心输出量逐渐减少导致伴有肺动脉闭锁的HRHS进展。妊娠39周时，一名体重2480克的女婴顺利分娩，出生后1分钟和5分钟的阿氏评分分别为8分和9分。出生后开始使用前列腺素E1治疗以维持导管通畅。产后超声心动图和血管计算机断层扫描（CT）证实了产前诊断，显示右心室至右冠状动脉（RCA）瘘以及RCA灌注连续性中断。新生儿成功进行了第一阶段姑息治疗，采用改良布莱洛克-陶西格分流术建立体肺循环。在过渡期的随访显示，患儿临床状况良好，未报告重大并发症。
CVA罕见但为重要异常，具有严重血流动力学后果的可能性。整合先进成像技术、产前咨询和量身定制的产后管理的多学科方法对于优化结果至关重要。
