This is Cardiac Amyloidosis. Looking at this case retrospectively, the ECG shows low voltage QRS complexes while there is generalised hypertrophy of all the chambers of heart. This discrepancy between ECG and Echo is almost always seen in Inflitrative Cardiomyopathies. Four well-known causes of Infiltrative Cardiomyopathy are: 1) Cardiac Amyloidosis, considered prototype of infliltrative cardiomyopathy 2) Cardiac Sarcoidosis 3) Haemochromotasis 4) Anderson Fabry Disease Now the only infiltrative cardiomyopathy that affects tendons, as evident by carpal tunnel syndrome, autonomic nervous system, as evident by orthostatic hypotension, and kidneys, as evident by nephrotic range proteinuria, is Cardiac Amyloidosis. Cardiac sarcoidosis would present with heart blocks and ventricular arrythmia. Haemochromarosis would have other features of iron deposition like diabetes, skin pigmentation, joint involvement, liver failure etc. Anderson Fabry Disease is a lysosomal storage disease. It's rare. Technically it should present early in life and there should be some family history too. But, cardiac and renal variants of Fabry disease can present late, and above all, ground realities in the field of medicine are not so well-defined as they are in theory. So Fabry disease is a good differential. But the diagnosis of Cardiac Amyloidosis is further confirmed on echocardiography which shows speckled pattern on myocardium and more importantly, "apical sparing of longitudinal strain" which is 93% sensitive and 82% specific for Cardiac Amyloidosis. The echo features of Fabry disease resemble those of Hypertrophic Cardiomyopathy than those of Cardiac Amyloidosis. Serum/urine protein immunofixation, cardiac MR and bone tracer cardiac scintigraphy can be used for further confirmation. Cardiac biopsy, although gold standard, is generally never required.
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