Characteristics and survival data from Latvian pulmonary hypertension registry : comparison of prospective pulmonary hypertension registries in Europe

Publisher Copyright: © The Author(s) 2018.Patient registries are a valuable tool in the research of rare conditions such as pulmonary hypertension (PH). We report comprehensive hemodynamic and survival data of 174 patients with pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH), included in the prospective Latvian PH registry over a period of > 9 years. In total, 130 adult PAH patients (75%) and 44 adult CTEPH patients (25%) were enrolled. The median follow-up period was 33 months for PAH and 18 months for CTEPH, P = 0.001. Latvian CTEPH patients had significantly higher plasma levels of B-type natriuretic peptide, higher pulmonary vascular resistance, and lower cardiac index than Latvian PAH patients. Calculated incidence of PAH and CTEPH in Latvia in 2016 was 13.7 and 5.1 cases per million inhabitants, calculated prevalence was 45.7 and 15.7 cases per million inhabitants, respectively. Survival rates at one, three, and five years for PAH patients was 88.0%, 73.3%, and 58.1%, and 83.8%, 59.0%, and 44.2% for CTEPH patients, respectively. We compared our study results with data from European adult PH registries. Latvian PAH patients had the fourth lowest and CTEPH patients the lowest one-year survival rate among European adult PH registries. As most PH registries in Europe are small, yet with equivalent patient inclusion criteria, it would be desirable to combine these registries to produce more reliable and high-quality study results.publishersversionPeer reviewe

Pulmonary arterial hypertension incidence in Latvia in 2019

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Chronic thromboembolic pulmonary hypertension mimicking acute pulmonary embolism : a case report

Funding Information: Conflict of interest: Project No. lzp-2020/1-0055; ?Introduction of balloon pulmonary angioplasty method and evaluation of its effectiveness in the treatment of patients with chronic thromboembolic pulmonary hypertension at Pauls Stradi?? Clinical University Hospital? None declared. Publisher Copyright: © Am J Case Rep, 2021.Objective: Rare disease Background: Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare form of pulmonary hypertension which is often caused by recurrent emboli. The reported prevalence in Latvia is 15.7 cases per million inhabitants. Several risk factors predispose patients to develop chronic thromboembolic pulmonary hypertension, including the presence of chronic myeloproliferative diseases and splenectomy. Case Report: We present a case of a 68-year-old woman with a variant of chronic myeloproliferative disease, essential throm-bocythemia, splenectomy, and chronic thromboembolic pulmonary hypertension, in whom chronic thromboem-bolic pulmonary hypertension was mimicking acute pulmonary embolism. On admission, the patient had pro-gressive dyspnea, elevated right ventricular systolic pressure (RVSP) 60-70 mmHg, and elevated thrombocytes, C-reactive protein, BNP, and d-dimer levels. These results, as well as the results of thoracic computed tomog-raphy angiography with contrast, supported the diagnosis of acute pulmonary embolism. During the sequent follow-up visit after 3 months of effective anticoagulant therapy, the patient had elevated RVSP: 55-60 mmHg. Therefore, right heart catheterization was performed, in which it was found that mPAP was 37 mmHg with PCWP 5 mm Hg and PVR 8.9 Wood units, confirming the CTEPH diagnosis. Conclusions: Patients who are at high risk of thrombosis need an increased level of monitoring to be properly evaluated. An easy solution to misdiagnosis of CTEPH with an acute pulmonary embolism could be taking scrupulous patient history, which can reveal multiple risk factors of CTEPH development. The subsequent assessment of risk factors can lead to a more appropriate consideration of CTEPH diagnosis vs acute pulmonary embolism.publishersversionPeer reviewe

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.

The aim of this study was to determine the frequency of heterozygous truncating ALPK3 variants (ALPK3tv) in patients with hypertrophic cardiomyopathy (HCM) and confirm their pathogenicity using burden testing in independent cohorts and family co-segregation studies. In a discovery cohort of 770 index patients with HCM, 12 (1.56%) were heterozygous for ALPK3tv [odds ratio(OR) 16.11, 95% confidence interval (CI) 7.94-30.02, P = 8.05e-11] compared to the Genome Aggregation Database (gnomAD) population. In a validation cohort of 2047 HCM probands, 32 (1.56%) carried heterozygous ALPK3tv (OR 16.17, 95% CI 10.31-24.87, P  Heterozygous ALPK3tv are pathogenic and segregate with a characteristic HCM phenotype