Cardiovascular Journal of Africa: Vol 35 No 3 (SEPTEMBER/OCTOBER 2024)

CARDIOVASCULAR JOURNAL OF AFRICA • Volume 35, No 3, September – October 2024 AFRICA 185 Case Reports Delayed diagnosis of cardiac amyloidosis in a West African octogenarian Dzifa Ahadzi, Abdul-Subulr Yakubu, Alfred Doku, Francis Agyekum, Cyril Ofori, Harold Ayetey Abstract Left ventricular hypertrophy (LVH) is a common finding on cardiac imaging. Although there are multiple aetiologies for LVH, hypertension is frequently a presumed cause due to its high prevalence in the African region. Establishing a specific cause of LVH however requires thorough clinical evaluation with multimodality cardiac imaging playing a key role in the diagnostic pathway. We report on a case of a West African octogenarian who was treated presumptively for heart failure with preserved ejection fraction from hypertensive heart disease, based on his initial clinical presentation and echocardiographic findings three years earlier. By adopting a stepwise approach to his evaluation, including revisiting the history, and the application of multimodality cardiac imaging, the patient was diagnosed with cardiac amyloidosis. Keywords: left ventricular hypertrophy, cardiac amyloidosis, heart failure, West Africa Submitted 17/8/23; accepted 17/1/24 Published online 9/2/24 Cardiovasc J Afr 2024; 35: 185–188 www.cvja.co.za DOI: 10.5830/CVJA-2024-001 Left ventricular hypertrophy (LVH) is a common echocardiographic diagnosis.1 This finding defines the pathophysiological basis of disease but does not reliably establish the underlying cause.2 Therefore, LVH diagnosed on echocardiography should prompt a search for the specific underlying cause to guide patient care.2 In the African region, hypertensive heart disease is common and is driven by the rising prevalence of hypertension.1 The discovery of LVH in the presence of hypertension therefore frequently leads to a presumptive diagnosis of hypertensive heart disease without a systematic search for alternative causes. The causes of LVH include but are not limited to aortic stenosis, hypertension, hypertrophic cardiomyopathy (HCM) and infiltrative cardiomyopathies such as Fabry’s disease and cardiac amyloidosis.3 Cardiac amyloidosis is emerging as an important cause of LVH.4 Cardiac amyloid is the cardiac manifestation of systemic amyloidosis in whichmisfolded proteins aggregate into β-amyloid fibrils and deposit in the interstitium between cardiac myocytes.3 Patients in advanced stages of the disease tend to have restrictive cardiomyopathy (CM) with progressive organ dysfunction and failure.3,5 Cardiac amyloidosis is designated light-chain amyloid cardiomyopathy (AL-CM) and transthyretin amyloid cardiomyopathy (ATTR-CM), depending on the culprit amyloidogenic precursor protein. ATTR-CM is further designated as wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM) for the wild-type, and variant transthyretin cardiomyopathy (ATTRv-CM) for the mutant type.3 The ATTRwt-CM subtype occurs more commonly in the elderly, with distinct clinical features and disease course.4 Although the pathology is predominantly cardiac, extracardiac tissue can also be affected.4 Due to the multisystemmanifestation of the disease, clinicians may be led down alternative diagnostic pathways, sometimes leading to diagnostic delays and misdiagnoses.3,6 ATTRwt-CM is an important cause of undiagnosed heart failure, usually presenting as heart failure with preserved ejection fraction (HFpEF) and dysrhythmias in men above 60 years of age.4 This case highlights the need for a high index of suspicion to facilitate timely diagnostic evaluation and appropriate treatment. This is imperative, given recent therapeutic advances that have a positive impact on patient survival, functional capacity and quality of life. Case report We present an 81-year-old male who came in to our facility with a three-week history of progressive bipedal swelling, scrotal swelling and exertional dyspnoea alongside complaints of cough, orthopnoea, palpitations and symptoms consistent with prostatism. He had a 10-year history of adequately controlled Department of Internal Medicine, Tamale Teaching Hospital, Tamale, Ghana Dzifa Ahadzi, MB ChB, FWACP, dzifahadzi@gmail.com Abdul-Subulr Yakubu, MD Department of Medicine, University of Ghana Medical School, Korle-Bu Teaching Hospital, Accra, Ghana Alfred Doku, MD Francis Agyekum, MD Wooster Community Hospital, Wooster, Ohio, United States Cyril Ofori, MD Department of Internal Medicine and Therapeutics, School of Medical Sciences, University of Cape Coast, Cape Coast, Ghana Harold Ayetey, MD

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