Key result
Multimodality imaging and genetic testing identify hereditary transthyretin amyloidosis mimicking HCM, guiding targeted vutrisiran therapy.
Why the study?
Distinguishing hypertrophic cardiomyopathy from phenocopies in younger patients with unexplained ventricular hypertrophy remains a diagnostic challenge.
Case Report (n=1)
Unexplained ventricular hypertrophy with systemic manifestations or poor tolerance to standard heart failure therapies should prompt multimodal imaging to evaluate for transthyretin amyloidosis.
Case supports multimodal evaluation for red flags in unexplained hypertrophy; leaves open prospective validation of vutrisiran in rare hereditary ATTR.
BACKGROUND: Distinguishing hypertrophic cardiomyopathy from phenocopies remains a diagnostic challenge in younger patients presenting with unexplained ventricular hypertrophy. CASE SUMMARY: A 52-year-old Moroccan woman previously diagnosed with nonobstructive hypertrophic cardiomyopathy presented with recurrent pericardial chest pain, poorly tolerating angiotensin-converting enzyme inhibitors and beta-blockers. Cardiac magnetic resonance showed asymmetric hypertrophy and papillary muscle hypertrophy suggestive of hypertrophic cardiomyopathy, with markedly elevated native T1 mapping and extracellular volume. Bone scintigraphy subsequently demonstrated intense cardiac tracer uptake, consistent with transthyretin cardiac amyloidosis. Genetic testing confirmed a rare pathogenic TTR variant, p.Lys35Asn. Neurologic evaluation revealed moderate to severe sensorimotor polyneuropathy. Disease-modifying therapy with vutrisiran was initiated within a multidisciplinary care program. DISCUSSION: Current cardiomyopathy guidelines emphasize the importance of recognizing systemic red flags in hypertrophic phenotypes. Multimodality imaging is critical to establish diagnosis of transthyretin cardiac amyloidosis and allow timely initiation of disease-modifying therapy. TAKE-HOME MESSAGE: Unexplained hypertrophy with systemic manifestations should prompt evaluation for transthyretin amyloidosis.
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Panelo et al. (2026) conducted a case report in Hereditary Transthyretin Amyloidosis (ATTRv) (n=1). Vutrisiran and Multimodality Imaging was evaluated. Multimodality imaging and genetic testing successfully identified a rare hereditary transthyretin amyloidosis mimicking hypertrophic cardiomyopathy, enabling targeted vutrisiran therapy.
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