Hitherto unreported involvement pattern of Carvajal phenotype of cardiocutaneous syndrome: evaluation on cardiac MRI

Description 

An 11-year-old boy, born out of a consanguineous marriage, was admitted with gradually progressive dyspnoea, and facial and abdominal swelling for the past 1 year. On physical examination, he had woolly hair and patchy keratosis over the palms and soles (figure 1A,B). Chest radiograph showed gross cardiomegaly (figure 1C). ECG revealed left axis deviation. Transthoracic echocardiogram demonstrated biventricular dilatation with severe left ventricular dysfunction, trabecular configuration of both ventricles along with mild tricuspid and mitral valve regurgitation. Cardiac MRI revealed biventricular dilatation with severe global hypokinesia (left ventricular ejection fraction: 10%) and increased trabeculations in both the ventricles (figure 2A–D). Late gadolinium enhanced images showed extensive transmural enhancement predominantly of septum and lateral wall of left ventricle (figure 2E–F). In addition, enhancement was also seen in the right ventricular wall as well as involving the trabeculations. No genetic study was performed in...

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