Probable Loeys–Dietz Syndrome with aortic root dilatation and multiple arterial tortuosity in resource-limited setting : A case report

Q: What is the clinical evidence from this study?

Study design: Case Report. Population: Probable Loeys–Dietz Syndrome (LDS) with aortic root dilatation and arterial tortuosity (n=1). Intervention: Losartan and atenolol plus lifestyle modifications and multidisciplinary surveillance. Primary outcome: Clinical status and cardiovascular imaging stability at 6-month follow-up.

Q: What does this research mean for the field?

Medical therapy with multidisciplinary surveillance maintains short-term clinical and cardiovascular imaging stability in patients with probable Loeys-Dietz syndrome in resource-limited settings. Novelty: ClaimNovelty.CONFIRMATORY. Consensus alignment: ConsensusAlignment.NEUTRAL.

Nikita Datta; Zakia Akther Zahan; Nafisa Zaman Akhtar; Munim Hasan Choudhury; Amit Hasan; Rifah Anjum Samiha; Md. Deluwar Hussen

doi:10.1016/j.radcr.2026.09.066

October 16, 2026Radiology Case ReportsOpen Access

Probable Loeys–Dietz Syndrome with aortic root dilatation and multiple arterial tortuosity in resource-limited setting : A case report

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Why the study?

Loeys-Dietz Syndrome is a rare hereditary connective tissue disorder predisposing individuals to arterial and aortic aneurysms, where clinical and radiological features must support diagnosis when genetic testing is unavailable in resource-limited settings.

Key Points

Describe the clinical evaluation, imaging features, and multidisciplinary management of clinically suspected Loeys–Dietz syndrome in a resource-limited setting lacking genetic testing.
Clinical evaluation of a 17-year-old Bangladeshi male presenting with craniofacial dysmorphism, joint hypermobility, scoliosis, and residual talipes equinovarus.
Cardiovascular, vascular, neurological, and spinal imaging utilizing transthoracic echocardiography, contrast-enhanced CT, 3D CTA, cerebral and cervical MRA, and spinal MRI.
Implementation of multidisciplinary surveillance including serial 6-month echocardiography to monitor aortic root diameter alongside clinical criteria for surgical referral.
Contrast CT showed an ascending aortic diameter of 4.75 cm, an aortic root of 2.99 cm with a Z-score significantly >+4.0, and a sinotubular junction measuring 3.8 cm (Z-score >+4.0).
Vascular imaging revealed diffuse tortuosity of the bilateral carotid, vertebral, and middle cerebral arteries, along with enlarged sacral neural foramina consistent with dural ectasia.
At 6-month follow-up, the aortic root diameter measured 2.85 cm on transthoracic echocardiography, and the patient remained asymptomatic under ongoing multidisciplinary surveillance.

Study Design

Type

Case Report (n=1)

Multicenter

No

Structured PICO

P

Population

A 17-year-old Bangladeshi male with clinically suspected Loeys–Dietz syndrome, presenting with ascending aortic dilatation (4.75 cm), aortic root dilatation (2.99 cm), and diffuse arterial tortuosity, followed for 6 months.

I

Intervention

Medical stabilization with oral losartan initiated at 12.5 mg once daily (~0.4 mg/kg) titrated every 2–4 weeks to a target dose of 25–50 mg daily (~0.8–1.7 mg/kg), plus oral atenolol initiated at 12.5 mg daily titrated to achieve a resting heart rate of 60–70 bpm, alongside strict restriction of high-intensity isometric exercises/contact sports and regular 6-month echocardiographic and 12-month MRA surveillance.

O

Outcome

Clinical symptom status and stability of aortic dimensions on cardiovascular imaging (transthoracic echocardiography) at 6-month follow-up.surrogate

Demonstrates that characteristic craniofacial triad (hypertelorism, bifid uvula) combined with multimodal vascular imaging showing aortic root dilatation and arterial tortuosity can guide clinical diagnosis and medical stabilization of probable Loeys–Dietz syndrome when genetic testing is unavailable.

Limitations

Absence of definitive genetic testing to confirm Loeys–Dietz syndrome subtype due to resource limitations and financial constraints
Single-patient case report design
Definitive genetic subtype confirmation was not possible due to the absence of genetic testing and financial constraints in a resource-limited setting
Apparent differences in aortic measurements between baseline CT and follow-up echocardiography reflected differences in anatomic site, imaging modality, and measurement convention rather than true interval reduction

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Implication

Supports medical stabilization of probable Loeys-Dietz syndrome without genetic testing; hypothesis-generating and requires validation in larger cohorts.

Abstract

Loeys-Dietz Syndrome (LDS) is a rare hereditary connective tissue disorder that is characterized by multisystem disorders predisposing individuals to arterial and aortic aneurysms. We present the case of a 17-year-old Bangladeshi male referred to cardiology for assessment of systemic abnormalities and cardiovascular risk. He presented with craniofacial, musculoskeletal, and cutaneous abnormalities including hypertelorism, mandibular ectopic hair, joint hypermobility with mild thoracic scoliosis, residual talipes equinovarus. He had past medical history of surgically corrected congenital anomalies. Based on clinical and radiological findings, he was diagnosed with clinically suspected Loeys-Dietz Syndrome as genetic testing was unavailable. He was managed through a multidisciplinary approach with regular follow-up. This report adds to literature on Loeys-Dietz Syndrome, emphasizing on aortic root dilatation and carotid artery tortuosity as important clinical and radiological features supporting diagnosis of LDS particularly in young patients presenting with characteristic craniofacial abnormalities or suggestive radiological findings. Early recognition and multidisciplinary management are crucial in resource-limited settings to prevent life-threatening vascular complications.

Discussion

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Cite This Study

Datta et al. (2026) conducted a case report in Probable Loeys–Dietz Syndrome (LDS) with aortic root dilatation and arterial tortuosity (n=1). Losartan and atenolol plus lifestyle modifications and multidisciplinary surveillance was evaluated on Clinical status and cardiovascular imaging stability at 6-month follow-up.

synapsesocial.com/papers/6aee6b8671a7594806220977 https://doi.org/10.1016/j.radcr.2026.09.066

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Probable Loeys–Dietz Syndrome with aortic root dilatation and multiple arterial tortuosity in resource-limited setting : A case report

Figures

Key Points

Study Design

Structured PICO

Limitations

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Probable Loeys–Dietz Syndrome with aortic root dilatation and multiple arterial tortuosity in resource-limited setting : A case report

Figures

Key Points

Study Design

Structured PICO

Limitations

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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