Dr Margot Davis introduces the session, before Dr Aleksandar Alexandrov presents a real-world patient case to explore the complexities of diagnosing cardiac amyloidosis. The case follows a 73-year-old male with NYHA class II symptoms, a history of long-standing hypertension, elevated NT-proBNP, bilateral carpal tunnel syndrome, MGUS and leg pain. Despite initially a normal echocardiography, his progressive symptoms and biomarker trends raise suspicion of cardiac amyloidosis.

Prof Fabian Knebel and Dr Aleksandar Aleksandrov join Dr Margot Davis in this discussion, as they address the diagnoses of cardiac amyloidosis, within the context of the patient case presented in Part 1, with case red flags like carpal tunnel syndrome, high NT-proBNP and LV hypertrophy. They consider MRI, bone scintigraphy and biopsy, stressing diagnostic accuracy and access. The panel highlight the need to exclude AL amyloidosis and the challenge of differentiating it from hypertensive or hypertrophic cardiomyopathy.

Dr Margot Davis highlights the diagnostic challenges and clinical consequences of ATTR-CM, emphasising the need for earlier recognition. Dr Davis notes that cardiac amyloidosis often presents with non-specific symptoms, leading to frequent misdiagnosis, diagnostic delays and multiple consultations – associated with more advanced disease, reduced treatment efficacy, poorer quality of life and shorter survival. She presents that the true prevalence of ATTR-CM – particularly among older heart failure patients – is under-recognised, with up to five out of six cases potentially undiagnosed. Early detection, genotyping, and targeted screening are key to improving outcomes and healthcare efficiency.

Prof Olivier Lairez offers a practical framework for diagnosing ATTR-CM, guiding clinicians on when to suspect, rule out, or confirm the disease. He outlines a stepwise approach starting with clinical suspicion and screening for monoclonal proteins to exclude AL amyloidosis. He asserts that non-invasive diagnosis using bone scintigraphy is key for ATTR-CM, while biopsy is needed if results are unclear or AL is suspected. The talk also addresses potential imaging false positives and underscores the importance of genetic testing to confirm variant ATTR and support family screening.

Dr Fabian Knebel revisits a patient case to illustrate practical diagnosis and evolving management of ATTR-CM. He emphasises red flags like carpal tunnel syndrome and elevated NT-proBNP as early indicators. Diagnosis was confirmed through biopsy and genetic testing. Dr Knebel highlights the updated ESC guidelines and key diagnostic tools available.

Dr Margot Davis leads the panel discussion in a review of current and emerging treatment options. She concludes with a summary of the red flags that raise suspicion of suspected amyloidosis, underscores the importance of early detection and individualised care, and notes that early diagnosis, accurate genotyping and phenotyping increases patient therapy options.