Key result
A 66-year-old male with Holt-Oram syndrome and atypical left ventricular non-compaction successfully underwent thrombolytic therapy and mechanical thrombectomy for a cardioembolic stroke.
Why the study?
Ischemic stroke associated with rare syndromes represents under 5% of etiologies, and only a few cases with both Holt-Oram syndrome and left ventricular non-compaction syndrome have been reported.
Case Report (n=1)
Patients with Holt-Oram syndrome should undergo comprehensive cardiac evaluation to exclude non-compaction cardiomyopathy, which carries significant prognostic implications such as cardioembolic stroke.
May warrant cardiac evaluation in Holt-Oram syndrome after stroke; hypothesis-generating case extends limited evidence but requires validation.
Ischemic stroke associated with rare clinical syndromes represents less than 5% of etiologic factors. From those syndromes are Holt-Oram syndrome and Left ventricular non-compaction syndrome. We report a case of a 66 years old male with genetically confirmed Holt-Oram syndrome due to TBX5 mutation who presented with cryptogenic stroke most likely due to cardioembolic etiology. The patient has a history of moderate nonischemic cardiomyopathy due to an atypical pattern of left ventricular non-compaction confirmed by Cardiac Magnetic Resonance Imaging. The patient was treated appropriately with thrombolytic therapy and catheter-directed mechanical thrombectomy with minimal residual stroke symptoms. Holt-Oram syndrome is a genetic condition with variable clinical phenotypes, including cardiac manifestations. Left ventricular non-compaction syndrome is rare congenital cardiomyopathy defined as prominent left ventricular trabeculae, deep intertrabecular recesses, and a thin compacted layer. And only a few cases were reported with both conditions. Therefore, patients with the Holt-Oram Syndrome should get a comprehensive cardiac evaluation to exclude non-compaction cardiomyopathy, which may have significant prognostic implications.
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Abdelazeem et al. (2022) conducted a case report in Holt-Oram Syndrome and Thromboembolic Stroke (n=1). Thrombolytic therapy and catheter-directed mechanical thrombectomy was evaluated on Resolution of stroke symptoms. A 66-year-old male with Holt-Oram syndrome and atypical left ventricular non-compaction successfully underwent thrombolytic therapy and mechanical thrombectomy for a cardioembolic stroke.
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