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Case Report
Abstract
Background: Paradoxical embolism through a PFO or small ASD is a common mechanism of stroke in young adults, and randomized trials plus contemporary guidelines support closure in carefully selected 18–60-year-olds to reduce recurrence. Individuals with Down syndrome frequently have congenital heart lesions, raising the pretest probability of shunt-mediated stroke. Yet Down syndrome is also linked to moyamoya arteriopathy, creating diagnostic ambiguity when intracranial narrowing is seen on first-pass imaging. We present a 34-year-old woman with Down syndrome, an acute MCA infarct, and a mildly positive bubble study in whom TEE was deferred for achalasia, illustrating a cardiology-led diagnostic challenge that prioritized suspected PFO/ASD over less likely moyamoya while navigating secondary prevention and family-centered risk–benefit decisions.
Case Presentation: A 34-year-old woman with Down syndrome, dyslipidemia, and achalasia presented after several days of progressive right-hand weakness, facial droop, and dysarthria. She was twice misdiagnosed (tendinitis, then Bell’s palsy with prednisone). On admission, CT showed an acute left MCA infarct; CTA suggested diffuse circle-of-Willis narrowing. MRI confirmed a non-hemorrhagic infarct of the left frontal, parietal, and posterior temporal lobes; NIHSS 5–6; Risk of Paradoxical Embolism (RoPE) score 9. She started aspirin, clopidogrel, and high-intensity statin with permissive hypertension; apixaban was initiated on day 7 with early Physical, Occupational, and Speech Therapy referral. TTE revealed normal chambers/valves with an ejection fraction of 55–60%, and a mildly positive agitated-saline (bubble) study only with Valsalva. Telemetry captured sinus rhythm without arrhythmia; DVT screening was not performed as patient presented with low risk probability. A cerebral angiography was performed showing a left A1 occlusion and two distal M3–M4 branch occlusions without significant intracranial stenosis, favoring embolism. Because of achalasia, GI advised EGD prior to TEE; the family declined both procedures. She remained stable and transferred to inpatient rehabilitation.
Conclusions: In this 34-year-old with Down syndrome, a cortical left MCA infarct, a Valsalva-only positive bubble study, and a high RoPE score (9) increased the probability that an intracardiac shunt was clinically relevant rather than incidental, favoring paradoxical embolism as the leading mechanism. Although initial CTA raised concern for diffuse intracranial narrowing, catheter angiography demonstrated branch occlusions without significant intracranial stenosis, making moyamoya less likely and reinforcing an embolic pattern. Definitive shunt characterization was limited because TEE was deferred after GI consultation due to achalasia and prior dilation, consistent with known higher-risk esophageal pathology, and the family declined EGD/TEE and further invasive evaluation. Secondary prevention was tailored to this uncertainty: early dual antiplatelet therapy with transition to apixaban on day 7, paired with rehabilitation planning. While randomized trials and guideline frameworks support PFO closure in carefully selected 18–60-year-olds when no alternative cause is identified, this case underscores that patient-centered preferences and procedural feasibility can be equally determinative. Overall, it highlights the real-world challenge of balancing competing mechanisms in young stroke and the need for pragmatic, cardiology-led decisions when standard pathways are not achievable.
Recommended Citation
Loayza Pintado, Jose J.; Nava, Adolfo; Donis Castaneda, Jose; Ajani, Taiwo; and Uribe, Cesar, "The Bubble, the Blockage, and the Barrier: Weighing PFO Against Moyamoya in an Stroke Mechanism Diagnostic Challenge in Down Syndrome With Achalasia" (2026). Research Symposium. 11.
https://scholarworks.utrgv.edu/somrs/2026/posters/11
Included in
The Bubble, the Blockage, and the Barrier: Weighing PFO Against Moyamoya in an Stroke Mechanism Diagnostic Challenge in Down Syndrome With Achalasia
Background: Paradoxical embolism through a PFO or small ASD is a common mechanism of stroke in young adults, and randomized trials plus contemporary guidelines support closure in carefully selected 18–60-year-olds to reduce recurrence. Individuals with Down syndrome frequently have congenital heart lesions, raising the pretest probability of shunt-mediated stroke. Yet Down syndrome is also linked to moyamoya arteriopathy, creating diagnostic ambiguity when intracranial narrowing is seen on first-pass imaging. We present a 34-year-old woman with Down syndrome, an acute MCA infarct, and a mildly positive bubble study in whom TEE was deferred for achalasia, illustrating a cardiology-led diagnostic challenge that prioritized suspected PFO/ASD over less likely moyamoya while navigating secondary prevention and family-centered risk–benefit decisions.
Case Presentation: A 34-year-old woman with Down syndrome, dyslipidemia, and achalasia presented after several days of progressive right-hand weakness, facial droop, and dysarthria. She was twice misdiagnosed (tendinitis, then Bell’s palsy with prednisone). On admission, CT showed an acute left MCA infarct; CTA suggested diffuse circle-of-Willis narrowing. MRI confirmed a non-hemorrhagic infarct of the left frontal, parietal, and posterior temporal lobes; NIHSS 5–6; Risk of Paradoxical Embolism (RoPE) score 9. She started aspirin, clopidogrel, and high-intensity statin with permissive hypertension; apixaban was initiated on day 7 with early Physical, Occupational, and Speech Therapy referral. TTE revealed normal chambers/valves with an ejection fraction of 55–60%, and a mildly positive agitated-saline (bubble) study only with Valsalva. Telemetry captured sinus rhythm without arrhythmia; DVT screening was not performed as patient presented with low risk probability. A cerebral angiography was performed showing a left A1 occlusion and two distal M3–M4 branch occlusions without significant intracranial stenosis, favoring embolism. Because of achalasia, GI advised EGD prior to TEE; the family declined both procedures. She remained stable and transferred to inpatient rehabilitation.
Conclusions: In this 34-year-old with Down syndrome, a cortical left MCA infarct, a Valsalva-only positive bubble study, and a high RoPE score (9) increased the probability that an intracardiac shunt was clinically relevant rather than incidental, favoring paradoxical embolism as the leading mechanism. Although initial CTA raised concern for diffuse intracranial narrowing, catheter angiography demonstrated branch occlusions without significant intracranial stenosis, making moyamoya less likely and reinforcing an embolic pattern. Definitive shunt characterization was limited because TEE was deferred after GI consultation due to achalasia and prior dilation, consistent with known higher-risk esophageal pathology, and the family declined EGD/TEE and further invasive evaluation. Secondary prevention was tailored to this uncertainty: early dual antiplatelet therapy with transition to apixaban on day 7, paired with rehabilitation planning. While randomized trials and guideline frameworks support PFO closure in carefully selected 18–60-year-olds when no alternative cause is identified, this case underscores that patient-centered preferences and procedural feasibility can be equally determinative. Overall, it highlights the real-world challenge of balancing competing mechanisms in young stroke and the need for pragmatic, cardiology-led decisions when standard pathways are not achievable.
