BACKGROUND: Wild-type transthyretin cardiac amyloidosis (ATTRwt CA) is increasingly recognized as an important cause of heart failure and arrhythmias in older people. There are several clinical, echocardiographic, electrocardiographic (ECG) and laboratory features that increase the suspicion for ATTRwt CA. Presentation and phenotype can, however, be associated with atypical findings making it difficult to make a correct diagnosis. A 65-year-old man was admitted for an acute coronary syndrome. Echocardiography revealed diffuse concentric left ventricular (LV) thickening. Because of a history of bilateral carpal tunnel syndrome and polyneuropathy, the patient underwent dedicated laboratory testing and diphosphonate scintigraphy the results of which were suggestive of transthyretin cardiac amyloidosis. Also, a dynamic LV outflow tract obstruction due to the systolic anterior motion of the anterior mitral valve was noted on echocardiography during the initial investigations. Genetic testing for hypertrophic cardiomyopathy was negative. Seeking a conclusive diagnosis, endomyocardial biopsy was performed. This confirmed the diagnosis of ATTRwt CA. DISCUSSION: The presence of dynamic LV outflow tract obstruction is typically seen in patients with sarcomeric hypertrophic cardiomyopathy. It can be rarely seen also in individuals with cardiac amyloidosis, including ATTR-wt CA. The presence of so-called red flags in patients' history, physical examination, laboratory test, ECG and imaging should raise suspicion for other etiologies of LV wall thickening than hypertrophic cardiomyopathy. Although noninvasive diagnosis of ATTRwt CA is possible in most patients, endomyocardial biopsy remains necessary in cases with diagnostic ambiguity.

• Klíčová slova
• Amyloid cardiomyopathy, Carpal tunnel syndrome, Echocardiography, Heart failure, Polyneuropathy,
• Publikační typ
• časopisecké články MeSH

Restrictive cardiomyopathy (RCM) is a heterogeneous group of diseases characterized by restrictive left ventricular pathophysiology, i.e. a rapid rise in ventricular pressure with only small increases in filling volume due to increased myocardial stiffness. More precisely, the defining feature of RCM is the coexistence of persistent restrictive pathophysiology, diastolic dysfunction, non-dilated ventricles, and atrial dilatation, regardless of ventricular wall thickness and systolic function. Beyond this shared haemodynamic hallmark, the phenotypic spectrum of RCM is wide. The disorders manifesting as RCM may be classified according to four main disease mechanisms: (i) interstitial fibrosis and intrinsic myocardial dysfunction, (ii) infiltration of extracellular spaces, (iii) accumulation of storage material within cardiomyocytes, or (iv) endomyocardial fibrosis. Many disorders do not show restrictive pathophysiology throughout their natural history, but only at an initial stage (with an evolution towards a hypokinetic and dilated phenotype) or at a terminal stage (often progressing from a hypertrophic phenotype). Furthermore, elements of both hypertrophic and restrictive phenotypes may coexist in some patients, making the classification challenge. Restrictive pathophysiology can be demonstrated by cardiac catheterization or Doppler echocardiography. The specific conditions may usually be diagnosed based on clinical data, 12-lead electrocardiogram, echocardiography, nuclear medicine, or cardiovascular magnetic resonance, but further investigations may be needed, up to endomyocardial biopsy and genetic evaluation. The spectrum of therapies is also wide and heterogeneous, but disease-modifying treatments are available only for cardiac amyloidosis and, partially, for iron overload cardiomyopathy.

• Klíčová slova
• Amyloidosis, Classification, Myocardial disease, RCM, Restrictive cardiomyopathy,
• MeSH
• dopplerovská echokardiografie MeSH
• dysfunkce levé srdeční komory * patologie   MeSH
• echokardiografie MeSH
• lidé MeSH
• myokard patologie   MeSH
• restriktivní kardiomyopatie * diagnóza   patologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH