Abstract:
Background. Congenital absence of the portal vein (CAPV) is an extremely rare malformation that is caused by aberrant venous development during embryogenesis and is usually associated with congenital portosystemic shunts (CPSS). This hemodynamic allows mesenteric blood to bypass the liver metabolism and causes an imbalance between vasodilators and vasoconstrictors in the pulmonary circulation, which, again, might lead to the development of secondary portopulmonary hypertension (PoPH). Establishing the exact morphology of the splanchnic venous system is important when evaluating possible therapeutic options (differentiating type I and II CAPV), because some variants enable the closure of the shunt, and this represents a potential cure for pulmonary arterial hypertension (PAH). Once PoPH is diagnosed, complex care in a specialized expert centre is necessary. If possible, CPSS closure is recommended. For long-term successful patient management, specific targeted PAH therapy administration is crucial. Significant morbidity and mortality in these patients may result not only from PAH itself but also due to specific PoPH complications, such as compression of the left main coronary artery by pulmonary artery aneurysm. Case Report. We report on two patients with PoPH due to CAPV and CPSS (without any liver disease) who presented as severe PAH and who, before admission to our expert centre, were misdiagnosed as idiopathic PAH. The case reports also represent our experience with respect to the long-term follow-up and PAH-specific medical treatment of these patients, as well as the possible (even fatal) complications of these rare and complex patients.
摘要:
背景。先天性门静脉缺失(CAPV)是一种极为罕见的畸形,是由胚胎发育过程中异常的静脉发育引起的,通常与先天性门体分流(CPSS)有关。这种血液动力学允许肠系膜血液绕过肝脏代谢,并导致肺循环中血管扩张剂和血管收缩剂之间的失衡,which,再次,可能导致继发性门性肺动脉高压(PoPH)的发展。在评估可能的治疗选择(区分I型和II型CAPV)时,建立内脏静脉系统的确切形态很重要,因为一些变体可以关闭分流器,这代表了肺动脉高压(PAH)的潜在治愈方法。一旦诊断出PoPH,专业专家中心的复杂护理是必要的。如果可能,建议关闭CPSS。为了长期成功的患者管理,特异性靶向治疗PAH至关重要。这些患者的显著发病率和死亡率可能不仅由PAH本身引起,而且由于特定的PoPH并发症。如肺动脉瘤压迫左冠状动脉主干。病例报告。我们报告了两名由于CAPV和CPSS(无任何肝脏疾病)导致的PoPH患者,他们表现为严重的PAH,在进入我们的专家中心之前,误诊为特发性PAH。病例报告还代表了我们对这些患者的长期随访和PAH特异性药物治疗的经验,以及这些罕见和复杂患者可能(甚至致命)的并发症。