Point-of-Care Ultrasonography Saves the Day in Dilated Cardiomyopathy: A Rare Presentation of Hyperhomocysteinemia

Here, we report a case of hereditary hyperhomocysteinemia presenting as dilated cardiomyopathy which was successfully diagnosed using a combination of point-of-care ultrasonography (POCUS) and echocardiogram (ECHO). A 39-year-old Caucasian male with a family history of homocystinuria and early deaths in adult male members from cardiovascular disease presented with complaints of purplish discoloration and 4/10 pain in bilateral feet along with severe nausea/vomiting for the last two days. Physical examination was significant for tachycardia, low normal mean arterial pressures, dry mucous membranes, right basilar crepitations, S3 gallop with holosystolic murmur along with peripheral cyanosis, and pitting edema. Laboratory examination revealed leucocytosis, elevated d-dimers, high anion gap metabolic acidosis secondary to worsening renal function, elevated liver enzymes, hyperhomocysteinemia, elevated B-type natriuretic peptide, and troponins along with low protein C and S. Electrocardiogram demonstrated left axis deviation with abnormal QRS-T angle and intraventricular conduction delay with a QRS duration of 133 ms. Bedside POCUS and ECHO revealed marked left ventricular dilatation with an ejection fraction of 10% and mitral regurgitation. Computed tomography angiography of the chest and abdomen was positive for partial left subclavian vein thrombus with extensive collateral formation and right-sided pleural effusion. The patient was started on anticoagulants and promptly transferred to a tertiary care center for left ventricular assist device placement. Hyperhomocysteinemia can present with atypical heart failure symptoms, and early usage of bedside POCUS and interpretation of findings in the context of family history are imperative for a successful diagnosis.