Hereditary haemorrhagic telangiectasia with atrial septal defect and pulmonary hypertension during advanced pregnancy: a case report and literature review

Abstract

Pregnancy complicated with hereditary haemorrhagic telangiectasia (HHT) is a rare condition. This case report presents an extremely rare case with the co-occurrence of HHT and congenital heart disease. In this report, a 43-year-old woman at 36 + 4 weeks of gestation experienced haemoptysis with a volume of approximately 300 ml for the first time. Uncommonly, her transthoracic echocardiogram revealed a previously unrecognized atrial septal defect (ASD) and pulmonary hypertension (PH) for the first time at 36 + 1 weeks of gestation. Chest computed tomography revealed an arteriovenous malformation (AVM) in the right lower lobe of the lung. Due to concerns of rebleeding of ruptured pulmonary arteriovenous malformations (PAVMs), the patient underwent a caesarean section at 36 + 6 weeks of gestation. A healthy male infant weighing 2800 g was delivered. To the best of our knowledge, there have been few reports about HHT with ASDs and PH during advanced pregnancy. This current case report highlights the necessity for clinicians to pay considerable attention to cardiac structural abnormalities, which can worsen PAVM in patients with HHT during pregnancy, for whom terminating the pregnancy in time may reduce the risk of PAVM rupture.

Keywords: Hereditary haemorrhagic telangiectasia; atrial septal defect; case report; pregnancy; pulmonary hypertension.

Figure 1.

The subsequent physical examinations of a 43-year-old female patient, gravida 2, para 1, at 36 weeks of gestation, admitted in a stable condition following the diagnosis of placenta accreta for 1 month, revealed telangiectasias on the skin of her forearm. The colour version of this figure is available at: http://imr.sagepub.com.

Figure 2.

Computed tomography of the chest of a 43-year-old female patient, gravida 2, para 1, at 36 weeks of gestation, admitted in a stable condition following the diagnosis of placenta accreta for 1 month, demonstrated right lower lobe arteriovenous malformation (black arrow).

Figure 3.

Transabdominal ultrasound examinations of a 43-year-old female patient, gravida 2, para 1, at 36 weeks of gestation, admitted in a stable condition following the diagnosis of placenta accreta for 1 month, revealed diffuse hepatic artery dilatation. The colour version of this figure is available at: http://imr.sagepub.com.

Figure 4.

Transthoracic echocardiogram of a 43-year-old female patient, gravida 2, para 1, at 36 weeks of gestation, admitted in a stable condition following the diagnosis of placenta accreta for 1 month, demonstrated the following: (a) an atrial septal defect. The yellow arrow indicates that blood flowed through the opening in the septum (LA, left atrium; RA, right atrium; LV, left ventricle; RV, right ventricle); (b) estimated systolic pulmonary artery pressure; (c) an eccentricity index (EI) of 1.4 where EI = D2/D1 (D1, left ventricular diameter perpendicular to the septum; D2, left ventricular diameter parallel to the septum; (d) a dilated pulmonary artery (PA); The white dotted line represents the pulmonary artery diameter. The colour version of this figure is available at: http://imr.sagepub.com.