ABC | Volume 113, Nº5, November 2019

Review Article Fernandes et al. Deposit diseases and ventricular hypertrophy Arq Bras Cardiol. 2019; 113(5):979-987 Figure 1 – Diagnostic flow chart heart failure patients with and without left ventricular hypertrophy. 1 Patient with heart failure Echocardiogram shows preserved left ventricular ejection fraction (LVEF) with increased LV wall thickness Infiltrative restrictive cardiomyopathy Echocardiogram shows preserved LVEF with normal LV wall thickness Hypertensive heart disease Hypertrophic cardiomyopathy Restrictive cardiomyopathy (RCM) Constrictive pericarditis High output heart failure Amyloidosis Glycogen storage diseases such as Fabry disease Endomyocardial fibrosis Radiation heart disease Iron overload cardiomyopathy Idiopathic RCM The wild form, formerly called senile, as it can also affect individuals under the age of 50, predominantly affects the heart. It usually affects males with aged 77 years and usually there are neurological symptoms, such as carpal tunnel and spinal canal stenosis, five years before cardiac symptoms. Wild amyloidosis is more prevalent than we previously thought and can be detected at necropsy in up to 20% of individuals with preserved systolic heart failure (HFPEF) and in 13% of HFPEF patients hospitalized with ventricular wall thickening over 12 mm. 9,10 Patients with TTR amyloidosis have ventricular wall thickening, diastolic dysfunction, and conduction system disorders. 6,11 Although, these patients have better survival when compared to patients with AL amyloidosis. ATTR-amyloidosis progresses when not treated properly with heart failure (HF), reduced functional capacity, and severe arrhythmias. 12 We have observed in our group that patients with ATTRwt have been treated as hypertensive heart disease or HFPEF. The presence of left ventricular hypertrophy disproportionate to the degree of hypertension, previous motor sensory symptoms and the presence of dysautonomia may be the red flags for a possible diagnosis of deposit disease. Degenerative aortic calcification occurs in elderly individuals over 75 years and may evolve with signs and symptoms of HF. However, in a necropsy study, the presence of cardiac amyloidosis and aortic stenosis has been observed in this population. 13 Amyloidosis causes diastolic dysfunction and ventricular thickening that shares some features with aortic stenosis. The concomitance of ATTRwt and aortic stenosis may lead to significant ventricular hypertrophy and functional impairment that may be confused with low flow, low gradient aortic stenosis. Amyloid deposition may lead to the use of pacemaker after percutaneous procedures (TAVI) and high prevalence of late enhancement evaluated by cardiac magnetic resonance imaging. 14 Treibel et al. 14 studying patients with severe aortic stenosis found a prevalence of amyloidosis in 6% of cases, all with ATTRwt. In these patients, there was a higher mortality, about 50%, and the authors suggest that nuclear scintigraphy could be a complementary method in the diagnosis of amyloidosis and could influence the need for interventional treatment and the use of specific therapies for amyloidosis. We have observed in our group that some patients despite interventional aortic valve treatment remain symptomatic and that the real aetiology for the symptoms was ATTRwt. Deposits of amyloidmay also be found in a histopathological study of patients with hypertrophic cardiomyopathy undergoing myectomy surgery. 15,16 TTR mutation may be common in individuals > 55 years diagnosed as HCM, particularly African Americans. Danny et al evaluated 298 patients from 9 French centers the presence of amyloidosis in patients with ventricular hypertrophy over 15 mm. Mutation genotype of ATTRmwas found in 17 patients. The prevalence of ATTRm was 5% and 8.3% in patients > 55 years, respectively. The mutations found were: V142I (8), V50M (2) and I127V (2). Patients with ATTRm mutation were older, had a higher frequency of neuropathy (53%), carpal tunnel syndrome (46%), low ECG voltage (36%), symmetrical hypertrophy (92%), abnormal left ventricular function, increased filling pressures and late gadolinium enhancement when compared to patients without the mutation. Thus, amyloidosis 980