Background About 4% of African Americans possess the isoleucine 122 (V122I) variant of transthyretin, associated with cardiac amyloidosis beyond ages of 55 to 60 years. Transthyretin amyloidosis ...associated with variant V122I (ATTR V122I) is likely to be an important cause of heart failure in Afro-Caribbean populations, but the high prevalence of left ventricular hypertrophy (LVH) and lack of awareness of this genetic disorder pose diagnostic hurdles. We report the electrocardiographic (ECG) features of ATTR V122I in the largest clinical series to date. Methods Patients with ATTR V122I were identified in collaboration with the UK National Amyloidosis Centre. The ECG at presentation was assessed for cardiac rhythm, axis, and voltage complex size. Results We include 64 patients with ATTR V122I, with a median age of 74 years (range, 57-88 years). Normal or increased ECG voltage was present in 44.3% of patients, and overall 25% met the criteria for LVH. A significant negative correlation between voltage complex size and duration of illness was seen ( P < .05). First-degree heart block was evident in 56% of patients in sinus rhythm. During follow-up (n = 17; median, 28 months), 50% of patients with initial first-degree heart block required pacing. Conclusion Electrocardiographic voltages meet the criteria for LVH in one quarter of patients with ATTR V122I cardiac amyloidosis. The widely held belief that cardiac amyloidosis is associated with low-voltage complexes is likely to contribute to underdiagnosis of ATTR V122I. First-degree heart block is common at diagnosis and identifies patients at high risk for subsequent pacing requirement.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
Localised immunoglobulin light-chain amyloidosis, involving one type of tissue, is rare. Little systematic data exists regarding clinical presentations, course or outcomes, or risk of progression to ...systemic amyloidosis. We aimed to report clinical features and outcomes of a large series of patients with localised light-chain amyloidosis.
We examined data for all patients with localised amyloidosis who were diagnosed, assessed, and followed at the UK National Amyloidosis Centre (NAC) between Jan 2, 1980, and Dec 15, 2011, from the NAC database and written records. The inclusion criteria was the presence of biopsy sample proven localised amyloidosis classified as biopsy proven amyloid deposition confined to one site or tissue proven by histology of the tissue examined), without any evidence of vital organ involvement, which was defined as cardiac, renal, or liver involvement or peripheral or autonomic neuropathy and treatment naive.
We identified 606 patients with biopsy proven localised amyloidosis (likely light-chain type in 98%) from 5050 newly diagnosed patients with all types of amyloidosis. Median age was 59·5 years (IQR 50·2-74·5). The most common sites included bladder (95; 16%), laryngeal or tonsillar (92; 15%), cutaneous (84; 14%), and pulmonary nodular (47; 8%). 121 (20%) had a monoclonal immunoglobulin or abnormal circulating free light chains. At median follow-up of 74·4 months (IQR 37·2-132·0), seven (1%) patients progressed to systemic immunoglobin light-chain amyloidosis. 270 (51%) patients had one repeated treatment intervention and 112 (21%) had more than one repeated treatment interventions (predominantly localised debulking). The estimated 5-year overall survival was 90·6% (95% CI 87·7-92·9) and 10-year overall survival was 80·3% (75·1-84·1). In patients aged 70 years or older, median overall survival was 12·1 years (95% CI 10·5-13·7).
Localised immunoglobulin light-chain amyloidosis has an excellent prognosis with no apparent effect on life expectancy. Evolution into systemic immunoglobulin light chain amyloidosis is very rare.
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