SHM Converge Scientific Abstract ePoster Gallery-Early Onset Cardiovascular Disease Unveiling Werner Syndrome: A Case Report

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This case describes a 36-year-old man with multiple cardiovascular risk factors and a history of hypertrophic cardiomyopathy, hypertension, diabetes, chronic kidney disease, and vascular disease who presented with chest tightness and shortness of breath. He was hypertensive, tachycardic, and had markedly elevated troponin and BNP levels, with acute kidney injury on chronic kidney disease. ECG findings suggested ischemia, and he was initially treated as a non-ST elevation myocardial infarction with aspirin and heparin.<br /><br />Echocardiography showed mildly reduced left ventricular function without a clear regional wall motion abnormality. Coronary angiography revealed significant stenoses in the right coronary and left circumflex arteries, and three drug-eluting stents were placed. Cardiac MRI did not show infiltrative cardiomyopathy. He was discharged on dual antiplatelet therapy.<br /><br />The diagnosis became clearer after noting his striking physical features: short stature, extremely low BMI, wrinkled skin, thin white hair, bilateral cataracts, and hoarse voice. Family history was also suggestive, with similarly affected siblings and a daughter who had a coronary event at age 14. Genetic evaluation led to a diagnosis of Werner syndrome, an autosomal recessive progeroid disorder caused by WRN mutations and characterized by premature aging.<br /><br />The report emphasizes that early-onset atherosclerotic cardiovascular disease combined with progeroid features should prompt suspicion for Werner syndrome. Important manifestations include cataracts, premature graying, skin changes, short stature, hoarse voice, diabetes, osteoporosis, and accelerated atherosclerosis. Management includes cardiovascular surveillance, diabetes screening, eye and skin exams, osteoporosis monitoring, and genetic counseling for patients and family members.

Asset Subtitle

Sandhya Tagaram

Meta Tag

Author List Sandhya Tagaram, Shashidhar Reddy Madireddy, Stephen Foley

Category Clinical Vignettes

Concept Werner Syndrome

Concept Atherosclerotic Disease

Concept Progeroid Disorder

Concept Early Graying

Concept Cataract

Distinguished Non-Finalist

Presenter Organization UMass Memorial Medical Center

Presenting Author Sandhya Tagaram

Track Adult

Keywords

Werner syndrome

premature aging

atherosclerotic cardiovascular disease

hypertrophic cardiomyopathy

non-ST elevation myocardial infarction

coronary angiography

drug-eluting stents

WRN mutation

bilateral cataracts

genetic counseling

Werner Syndrome

Atherosclerotic Disease

Progeroid Disorder

Early Graying

Cataract