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Incidental diagnosis of a complex cyanotic congenital heart defect in a 32-year-old with orbital abscess

Published online by Cambridge University Press:  21 November 2025

Som Singh Open the ORCID record for Som Singh [Opens in a new window] ,
Stephen John ,
Li Xiong  and
Santosh C. Uppu
Som Singh*
Affiliation:
Department of Internal Medicine, University of Texas Health Sciences Center at Houston, Houston, TX, USA
Stephen John
Affiliation:
Department of Internal Medicine, University of Texas Health Sciences Center at Houston, Houston, TX, USA Division of Cardiovascular Disease, Department of Internal Medicine, University of Texas Health Sciences Center at Houston, Houston, TX, USA
Li Xiong
Affiliation:
Children’s Memorial Hermann Hospital, Houston, TX, USA
Santosh C. Uppu
Affiliation:
Department of Internal Medicine, University of Texas Health Sciences Center at Houston, Houston, TX, USA Division of Cardiovascular Disease, Department of Internal Medicine, University of Texas Health Sciences Center at Houston, Houston, TX, USA Adult Congenital Heart Disease Program, University of Texas Health Sciences Center at Houston, Houston, TX, USA
*
Corresponding author: Som Singh; Email: som.p.singh@uth.tmc.edu
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Abstract

This case describes a 32-year-old adult male who was incidentally diagnosed with isolated dextrocardia, Double inlet left ventricle (l-looped), l-transposed great arteries with subpulmonary stenosis during evaluation for an orbital abscess. This case highlights protective factors that enabled this patient’s survival into adulthood without cardiac surgeries or medications despite single ventricle physiology, namely his “self-banded” pulmonary flow.

Keywords

dextrocardiacyanotic congenital heart defectorbital abscesshypoxia

Information

Type
Brief Report
Information
Cardiology in the Young , Volume 35 , Issue 12 , December 2025 , pp. 2570 - 2574
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Copyright
© The Author(s), 2025. Published by Cambridge University Press

Introduction

Unrepaired complex congenital heart defects are rarely diagnosed in adults. Survival of unrepaired single ventricle physiology has been described in various case reports and series. Reference McLean, Downing, John, Sinha and Ito1,Reference Opotowsky and Webb2 Patients with single ventricle physiology currently undergo a series of surgeries that ultimately result in a Fontan circulation where systemic venous return is connected to the pulmonary arteries without a pumping chamber, this arrangement is not physiological and results in various early and long-term complications with uncertain future past 3rd and 4th decade. Reference Opotowsky and Webb2,3 Most patients with unrepaired double inlet left ventricle have pulmonary stenosis or pulmonary vascular disease with resultant “balanced” circulation delaying the morbidity and tend to survive past 30 years of age. Reference Poterucha, Anavekar and Egbe4

Case description

A 32-year-old male with no previous medical history presented to the emergency department due to severe right eye pain and drainage concerning for orbital abscess. Computed tomography findings showed right orbital cellulitis and abscess formation (Figure 1).

Figure 1.

Initial axial computed tomography (CT) of orbits with contrast demonstrating rim-enhancing intraconal fluid collection in the right orbit measuring 2.5 x 1.2 x 1.5 cm (see arrow).

Upon further questioning, he endorsed stable dyspnoea on exertion since childhood, as a child, he was told that he had an “innocent” heart murmur and would grow out of it. He participated in soccer as a child and could not keep up with his peers. He remained active as an adult with a physically demanding job. He denied prior cardiac history or workup. He was born in a developing country and immigrated to the USA as an adult.

His initial vitals showed desaturation to 80%, but he was breathing comfortably on room air. His vitals were within normal limits, with a blood pressure of 125/83 mmHg and a heart rate of 87/min. His physical examination demonstrated 2+ pulses with no brachiofemoral delay, grade 2 clubbing on all extremities, cardiac apex in the right chest, and a 3/6 ejection systolic murmur best heard on the left 2nd and 3rd intercostal spaces with radiation to axillae.

Laboratories demonstrated polycythaemia at 22.9 g/dL with leukocytosis and normal cardiac markers including N-terminal pro BNP. Electrocardiogram revealed sinus rhythm with Q waves in the limb leads, chest X-ray showed dextrocardia, cardiomegaly, and abdominal situs (Figure 2). The electrocardiogram demonstrated sinus rhythm with possible right atrial abnormality and left ventricular hypertrophy (Figure 3).

Figure 2.

Initial chest X-ray demonstrating a degree of cardiomegaly and dextrocardia.

Figure 3.

Electrocardiogram from standard lead placement demonstrating sinus rhythm with possible right atrial abnormality and left ventricular hypertrophy.

He underwent a chest CTA for hypoxia, which demonstrated the cardiac lesion. Transthoracic echocardiogram showed dextrocardia, double inlet left ventricle, and some subpulmonary stenosis related to attachments likely from the tricuspid valve tissue. Doppler interrogation was suboptimal due to technical limitations.

A detailed congenital cardiac Magnetic Resonance Imaging confirmed isolated dextrocardia, Double inlet left ventricle (l-looped), large bulboventricular foramen and transposed great arteries with aorta coming off hypoplastic right ventricle (l-transposition), segmental notation {S, L, L}. Left ventricle is dilated and receives both tricuspid and mitral valves with normal systolic function (left ventricular ejection fraction 55%). Pulmonary valve arises from the morphologic left ventricle with some degree of subpulmonary and valvar pulmonary stenosis. A large bulboventricular foramen connects left ventricle to the hypoplastic right ventricle. Aorta arises from the right ventricle. Pulmonary to systemic flow ratio (Qp/Qs) was measured at 1.5:1 (Figure 4).

Figure 4.

Axial view of cardiac magnetic resonance imaging (MRI) demonstrating isolated dextrocardia with atrial situs solitus. (a) normal positioning of inferior vena cava and aorta (b) double inlet left ventricle (l-looped). (c) large bulboventricular foramen (arrow) (d) aorta coming off hypoplastic right ventricle (l-transposition) and pulmonary valve arises from the morphologic left ventricle with some degree of pulmonary stenosis.

His baseline oxygen saturations of 80-85% were acceptable, and he underwent emergent surgical orbitotomy and abscess drainage under cardiovascular anaesthesia. He recovered well and was discharged home with recommendations to establish close outpatient adult CHD follow-up. He was started on loop diuretics before discharge to prevent pulmonary overcirculation.

Discussion

It is rare to encounter adults with unrepaired complex congenital heart defects. Reference Romfh, Pluchinotta, Porayette, Valente and Sanders5 Survival with good functional capacity is possible in those with favourable anatomy (DILV) and “balanced” pulmonary, systemic circulation, as has been described in various case reports and series. Reference Franken, Admiraal and Verrall6,Reference Zheng, d’Udekem and Grigg7 Patients with single ventricle physiology undergo a series of surgeries that ultimately result in a Fontan circulation.

Our case highlights the possibility of encountering unrepaired complex congenital heart defects in the fourth decade of life. Patients with single ventricle physiology are at risk for pulmonary overcirculation, determined by pulmonary vascular to systemic vascular resistance ratio. This can result in irreversible remodelling of the pulmonary arteries: Eisenmenger’s syndrome. Our patient’s subpulmonary stenosis resulted in a self-banded ventricular septal defect physiology, limiting the Qp/Qs.

The problem with “balanced” circulation is that our patient is still exposed to elevated Qp/Qs over multiple decades, which puts him at higher risk of developing elevated pulmonary vascular resistance, dilated ventricles with potential heart failure and late arrhythmias. These may be difficult to medically manage once encountered and alternative options include multiorgan transplantation. This outcome is not very different from those undergoing Fontan procedure, which is a palliative surgery where systemic vena cavae are directly connected to the pulmonary arteries bypassing a pumping chamber that starts with multiple surgeries as a young child. Fontan haemodynamics are not physiologic with an absent subpulmonary pumping chamber; this can lead to chronically elevated central venous pressure, liver dysfunction, intestinal malabsorption, and lymphatic abnormalities. Reference Mazza, Gribaudo and Agnoletti8–Reference RochéRodríguez and DiNardo10 Long-term surveillance is imperative as individuals may develop arrhythmias, heart failure, or organ dysfunction such as Fontan-associated liver disease later in life. Reference Fredenburg, Johnson and Cohen11,12 These patients have uncertain future past 4th decade.

Some select unrepaired adult patients have survived with good functional class past 4th decade. Reference Franken, Admiraal and Verrall6,Reference Ammash and Warnes13 There are some who debate the need for routine Fontan, versus Blalock–Taussig–Thomas or Glenn shunt or delayed Fontan versus doing nothing in select patients. Reference Poterucha, Anavekar and Egbe4,Reference Earing, Cetta and Driscoll14–Reference Öztürk, Dellborg, Damlin, Giang, Mandalenakis and Sörensson16 There is no strong scientific evidence to support these alternatives at this time.

Unrepaired cyanotic patients have an increased risk of, which may be secondary to the persistent hypoxia and polycythaemia, creating an environment susceptible to thrombus formation allowing for microbial proliferation formation. Reference Gómez-Gutiérrez, Morelos-Ulibarri, Trejo-Ponce de Leon, Gomez-Flores and Luna-Ceron17–Reference Sangi, Ahsan and Shaikh19 Moreover, proper diagnosis is necessary for surgical/anaesthesia planning. Accepting lower oxygen saturation is important, as trying to improve oxygen saturation by supplemental oxygen would result in elevated Qp/Qs and further medical worsening. The decision to continue medical management was made for our patient. As such, this patient will require close ambulatory follow-ups.

Conclusion

This case highlights the nuanced clinical presentation of an unrepaired complex congenital heart defect in an adult. Clinicians need to consider congenital cardiac malformations, especially in patients with hypoxia. Appropriate individualised management decisions need to be made with the help of Congenital cardiologists. Single ventricle patients are often complex with unclear long-term outcomes even in the current era and as such need close follow-ups.

Financial support

This research received no specific grant from any funding agency, commercial, or not-for-profit sectors.

Competing interests

All authors declare no conflict of interest and agree to publish this manuscript.

Ethical standard

The patient provided informed, written consent for publication of this article.

References

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Figure 0

Figure 1. Initial axial computed tomography (CT) of orbits with contrast demonstrating rim-enhancing intraconal fluid collection in the right orbit measuring 2.5 x 1.2 x 1.5 cm (see arrow).

Figure 1

Figure 2. Initial chest X-ray demonstrating a degree of cardiomegaly and dextrocardia.

Figure 2

Figure 3. Electrocardiogram from standard lead placement demonstrating sinus rhythm with possible right atrial abnormality and left ventricular hypertrophy.

Figure 3

Figure 4. Axial view of cardiac magnetic resonance imaging (MRI) demonstrating isolated dextrocardia with atrial situs solitus. (a) normal positioning of inferior vena cava and aorta (b) double inlet left ventricle (l-looped). (c) large bulboventricular foramen (arrow) (d) aorta coming off hypoplastic right ventricle (l-transposition) and pulmonary valve arises from the morphologic left ventricle with some degree of pulmonary stenosis.