Case Report: Transthyretin Glu54Leu-a rare mutation with predominant cardiac phenotype.

We report two unrelated Bulgarian families with hereditary transthyretin (ATTR) amyloidosis due to a rare p.Glu74Leu (Glu54Leu) pathogenic variant found in seven individuals-three of them symptomatic. Only one family with the same variant and with a Swedish origin has been clinically described so far. Our patients are characterized by predominant cardiac involvement, very much similar to the Swedish patients. Although the initial complaint was bilateral carpal tunnel syndrome, advanced amyloid cardiomyopathy was found in two symptomatic carriers at diagnosis with heart failure manifestations. The neurological involvement was considered as mild, with mainly sensory signs and symptoms being present. We followed a non-biopsy algorithm to confirm the diagnosis. Tafamidis 61 mg has been initiated as the only approved disease modifying treatment for ATTR cardiomyopathy. Clinical stability in the absence of adverse events has been observed at follow up.

The use of single-pill combinations as first-line treatment for hypertension: translating guidelines into clinical practice.

: The 2008 European Society of Cardiology/European Society of Hypertension guidelines recommend the first-line prescription of two antihypertensive drugs in single-pill combinations (SPCs), also known as fixed-dose combinations, for the treatment of most patients with hypertension. This recommendation is based on a large amount of data, which shows that first-line treatment with SPCs supports reaching blood pressure targets rapidly and reducing cardiovascular outcome risk while keeping the therapeutic strategies as simple as possible and fostering adherence and persistence. As this approach constitutes a big shift from the stepped-care approaches that have been dominant for many years, practicing physicians have expressed concerns about using SPCs as first-line agents. In this review, we will discuss the barriers to the uptake of this recommendation. We will also offer suggestions to reduce the impact of these barriers and address specific concerns that have been raised.

Screening for mild cognitive impairment in patients with cardiovascular risk factors.

AIM: Cardiovascular risk factors are also risk factors for cognitive impairment. They have cumulative effect in target organ damage. The precise correlation between cardiovascular risk factors and cognitive impairment, as well as assessing the extent to which they may affect cognitive functioning, is difficult to ascertain in everyday clinical practice. Quick, specific, and sensitive neuropsychological tests may be useful in screening for, and the prophylaxis of, target organ damage in hypertensive patients. METHODS: We gathered full anamnesis, performed physical examination, laboratory screening and echocardiography. These variables were observed at office and home for all patients, For half of the patients, 24-hour ambulatory blood pressure monitoring and neuropsychological testing using Montreal Cognitive Assessment (MoCA), Mini Mental State Examination (MMSE), Geriatric Depression Scale, and the 4-instrumental activities of daily living scale were undertaken. RESULTS: For a period of 2 years, 931 patients were included after applying the inclusion and exclusion criteria. The mean age was 65.90±10.00 years. Two hundred and sixty three patients (85 [32.32%] males and 178 [67.68%] females) were reevaluated after a mean follow-up period of 12 months (6-20 months). The mean results of MoCA and MMSE were significantly lower (p<0.05) in the group of patients with poorly controlled blood pressure and cardiovascular risk factors. There was mild to intermediate negative correlation between Systematic Coronary Risk Evaluation (SCORE) and the neuropsychological tests' results. CONCLUSION: Cardiovascular risk factors play an important role for the development of cognitive impairment in the eastern European population because of their high frequency and interaction. The use of easily applicable neuropsychological tests in everyday clinical practice of specialties other than neurology may help in stratifying the risk for development and progression of mild cognitive impairment in this high-risk group.