A Volume Challenge Reveals the Diagnosis of Pediatric Restrictive Cardiomyopathy. (17th August 2022)

• Record Type: Journal Article
• Authors: Cohen, Elyssa; O'Halloran, Conor P.; Thrush, Philip T.; Ma, T. Marsha; Tannous, Paul
• Other Names: Farcaş Anca Daniela Academic Editor.
• Is Part Of: Case reports in cardiology. Volume 2022(2022)
• Publication Date: 2022-08-17
• Subjects: Cardiology -- Periodicals; 616.12005
• DOI: 10.1155/2022/4707309
• Languages: English
• ISSNs: 2090-6404

Abstract

Abstract : A healthy 11-year-old girl presented with exercise intolerance of unclear etiology, and her physical exam was notable for a 3/6 systolic ejection murmur at the left upper sternal border with radiation to the back. Extensive noninvasive workup consisted of ECG, transthoracic echocardiogram, and cardiac MRI/MRA, which were all nondiagnostic. She was ultimately referred for cardiac catheterization. Baseline invasive hemodynamics demonstrated a normal cardiac index and pulmonary vascular resistance but was notable for mildly elevated right and left end-diastolic pressures. A diagnosis remained elusive, so a 500 mL volume challenge was performed, which unmasked right and left ventricular waveform transformations to reveal the pathognomonic "square root sign" of restrictive cardiomyopathy with concordant RV/LV respirophasic variation. These findings and her clinical history allowed for the rare pediatric diagnosis of restrictive cardiomyopathy early in her clinical course, prior to the development of overt signs of pathologic myocardial remodeling, such as pulmonary hypertension and biatrial enlargement.