Are You Calling Me Fat? An Extreme Case of Cardiac Lipomatosis Masquerading as Hypertrophic Cardiomyopathy
A 15-year-old Nicaraguan female diagnosed with Proteus Syndrome at 3 months old presented to a pediatric cardiologist at 5 years of age after experiencing a near-syncopal event involving pallor, dizziness, and nausea. Her medical history was only significant for multiple surgical resections of soft tissue tumors in the umbilical and in the vaginal areas. Family history was negative for any congenital or acquired cardiac disease. On examination, swelling was noted of the right pectoral area, and there was right-sided hemihypertrophy. The remainder of the examination was normal, with a heart rate of 100 and blood pressure of 100/60 mm Hg. An initial electrocardiogram revealed a low atrial rhythm with right-axis deviation, right ventricular hypertrophy with strain, and ST changes in the inferior leads. An echocardiogram showed abnormal right ventricular thickening with abnormal diastolic filling. No valvular dysfunction or flow turbulence was noted. The patient was treated with β-blockers, restricted from competitive sports and physical education, and asymptomatic from a cardiorespiratory standpoint. At 6 years of age, she developed a seizure disorder, which was well controlled with medication and ultimately discontinued. Transthoracic (Figure 1) and transesophageal echocardiography (Figures 2 and 3) demonstrated thickening, marked echogenicity, and signal inhomogeneity of the biventricular walls, and no outflow tract obstruction was observed.