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Anomalous origin of the left pulmonary artery from the ascending thoracic aorta and a right patent ductus arteriosus associated with pulmonary hypertension in a woman of childbearing age: an unprecedented approach
  1. João Grade Santos,
  2. Filipa Ferreira,
  3. Sofia Alegria and
  4. Helder Pereira
  1. Cardiology, Hospital Garcia de Orta EPE, Almada, Setúbal, Portugal
  1. Correspondence to Professor Helder Pereira; hhpereira{at}gmail.com

Abstract

A female patient in her early 30s, with a medical history of pulmonary arterial hypertension associated with congenital heart disease, lost to follow-up, was referred to a pulmonary hypertension reference centre. The patient presented at a WHO functional class of II in a low-risk category. A transthoracic echocardiogram demonstrated severe pulmonary hypertension with right ventricular dysfunction. A cardiac MRI demonstrated a right aortic arch with anomalous origin of the left pulmonary artery from the ascending thoracic aorta and a patent ductus arteriosus. A right heart catheterisation confirmed the presence of severe pulmonary hypertension. The patient was started on combined vasodilator therapy with an improvement in symptoms and remaining in a low-risk category. This represents one of the oldest described cases of such an anomaly and the first description of response to vasodilator therapy, highlighting the importance of a structured approach in a reference centre for achieving optimal outcomes.

  • Pulmonary hypertension
  • Cardiovascular system

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Background

Pulmonary hypertension (PH) as a result of uncorrected congenital heart disease is a common condition, usually with an ominous prognostic in the paediatric population or early adulthood. Due to the rarity of each individual congenital heart defect, with evidence derived mainly from case reports, scarce recommendations exist for the individualised treatment of these patients.

We present one of the oldest described cases of an adult patient with an anomalous origin of the left pulmonary artery from the ascending thoracic aorta presenting with PH and the first described case of management with vasodilator therapy.

Case presentation

This clinical case portrays a female patient in her early 30s, with a medical history of an ill-characterised PH associated with congenital heart disease, lost to follow-up with no medical therapy. There was no known family history of heart disease, the patient had no other known prior medical history or regular medication.

She attended an emergency department for a gynaecological haemorrhage at 16 weeks of pregnancy. Due to the history of PH with high maternal mortality risk, termination of pregnancy was proposed and accepted by the patient. She was then referred to our PH centre.

The patient presented at a WHO functional class of II. No history of chest discomfort or syncope.

The vital signs were as follows: blood pressure 109/70 mmHg; heart rate 83 beats per minute; peripheral O2 saturation of 99% (fiO2 21%) in the upper and lower limbs, without cyanosis. Physical examination was remarkable only for a cardiac auscultation with an increased P2 sound and a continuous heart murmur on the lower sternal border. A 6 min walking march (MWM) was performed attaining 480 metres.

Investigations

The performed transthoracic and transesophageal echocardiograms showed an estimated pulmonary artery systolic pressure of 120 mmHg with dilation of the right atrium, severe right ventricular hypertrophy and systolic dysfunction. There was dilatation of the trunk and right pulmonary artery. The left pulmonary artery was not seen. The left ventricle had a preserved systolic function with a high eccentricity index. No pericardial effusion was observed. (figure 1).

Figure 1

A transthoracic echocardiogram demonstrating indirect signs of pulmonary hypertension with systolic and diastolic anomalous movement of the interventricular septum, a high eccentricity index and dilation of the trunk and right pulmonary artery. The left pulmonary artery was not identified.

Biochemical evaluation and viral serologies were unremarkable. The NT-proBNP levels were 177 pg/mL. The pulmonary function tests and the arterial blood gases were normal. The carbon monoxide diffusing capacity per litre of lung volume was 82%.

A cardiac MRI was performed and demonstrated severe right ventricular hypertrophy, with a right aortic arch and a right patent ductus arteriosus. An anomalous origin of the left pulmonary artery from the ascending thoracic aorta (ALPA) could be noted. Associated congenital cardiac defects were excluded (figures 2 and 3).

Figure 2

A cardiac magnetic resonance (in Fiesta cine axial plain) demonstrating the presence of severe right ventricular hypertrophy with a right aortic arch. An anomalous origin of the left pulmonary artery from the ascending thoracic aorta could be noted (star). Associated congenital cardiac defects were excluded.

Figure 3

A cardiac magnetic resonance (in Fiesta cine coronal plain) demonstrating the presence of a right patent ductus arteriosus (arrow).

A right heart catheterisation confirmed the presence of severe PH with mean pulmonary artery pressure of 86 mm Hg, a pulmonary artery wedge pressure of 28 mm Hg and pulmonary vascular resistance of 11 Wood units. A large persistent arterial duct to the right pulmonary artery was confirmed with persistent left to right shunt. The left pulmonary artery was visualised when injection was performed in the aortic root. Coronary arteries were normally implanted. A haemodynamic diagnosis of severe combined postcapillary and precapillary PH was made.

Treatment

The patient was started on combination therapy with sildenafil and bosentan (later replaced by macitentan due to hepatic toxicity).

On follow-up an iron deficiency was noted (ferritin 31 ng/mL; transferrin saturation 15%) and intravenous iron supplementation was given.

The pneumococcal and influenza immunisations were updated.

Due to high risk of future pregnancies the patient was proposed for a long-term contraceptive method, having chosen to implant an intrauterine device.

Outcome and follow-up

After 3 years of follow-up in a PH centre, there was an improvement in symptoms and in the 6 MWM, now attaining 540 metres, remaining in a low-risk category and on a WHO class I.

The transthoracic echocardiogram demonstrated an estimated pulmonary artery systolic pressure of 112 mm Hg with severe right ventricular hypertrophy, without dilation and with preserved systolic function.

Discussion

In the 1964 Stewart classification of congenital aortic arch abnormalities, revised in 2018, an anomalous origin of a branch pulmonary artery (AOPA) from the aorta represents a class IV abnormality,1 accounting for 0.12% of all congenital heart defects. Most reported case series amount to an anomalous origin of the right pulmonary artery (ARPA), with ALPA representing a minority of these cases. Kutche and Van Meirop2 reviewed 19 cases of ALPA from the ascending aorta in the literature, all of which had other structural abnormalities such as tetralogy of Fallot or right aortic arch (present in 63% of patients). In 16% of patients a ductus arteriosus was patent, always associated with a right aortic arch, as was described in our patient. Other authors have described associations with 22q11 microdeletion syndrome (such as DiGeorge syndrome).3 4

This is to our knowledge one of the oldest described patients with ALPA,5–7 with the reported cases amounting to a diagnosis in the neonatal period or early childhood with severe symptoms and a high mortality rate if left surgically uncorrected. Scarce cases have been reported in the adult population, mostly ARPA,5 6 with pulmonary arterial hypertension and heart failure seldom described or characterised, and with no reports of response to specific vasodilator therapy.

This clinical case portrays a case of severe PH associated with such a congenital heart disease.

The presence of pulmonary arterial hypertension associated with congenital heart disease constitutes a clinical group I PH and vasodilator therapy on top of supportive measures is indicated to achieve a low-risk status.

Lastly, pregnancy is associated with a substantial mortality rate in patients with pulmonary arterial hypertension and efforts should be set in place to provide effective contraceptive methods to women in childbearing age.

Following the 2016 guidelines for the diagnosis and treatment of PH,8 the patient was managed in an expert centre and started on combination therapy as well as other supportive measures, achieving a low-risk category and a WHO class I functional capacity.

Despite the severity of the case, the patient is doing reasonably well under medical therapy, aiming at delaying the progression of the disease and preventing the development of an Eisenmenger physiology and associated complications.

As this represents the first described case of a PH associated with AOPA managed with medical therapy there is still much to be known as to which factors could impact the clinical presentation, choice of therapy and outcomes. Thus, the presenting case intends to highlight an uncommon clinical course of this daunting anomaly.

Patient’s perspective

The regular and close follow-up, with a dedicated team throughout the years, allowed me to develop a relationship of trust with the health professionals which gave me reassurance that I was getting the best treatment and provided an open-door policy whenever I had doubts or insecurities. I am feeling quite well, can lead a normal life, and am now excited to learning how to be a hairdresser.

Learning points

  • This case portrays a pulmonary arterial hypertension secondary to an anomalous origin of the left pulmonary artery from the ascending thoracic aorta, a rare anatomical abnormality associated with a high morbidity and mortality if left surgically untreated.

  • This represents a rare case in a woman of childbearing age and the first treated with vasodilator therapy demonstrating the feasibility of medical treatment.

  • A structured approach in a dedicated centre was crucial for an adequate assessment of the clinical status and implementation of guideline-directed medical therapy.

Ethics statements

Patient consent for publication

References

Footnotes

  • Contributors JGS was responsible for the acquisition and interpretation of data, being the author who drafted the work. FF developed the conception and design of the work and together with SA were paramount in the analysis and interpretation of data. HP was responsible for overseeing the work, for the critical revision and the approval of the final version.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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