European Society of Cardiology Working Group on Adult Congenital Heart Disease and Study Group for Adult Congenital Heart Care in Central and South Eastern European Countries consensus paper: current status, provision gaps and investment required.

AIMS: To examine the current status of care and needs of adult congenital heart disease (ACHD) services in the Central and South Eastern European (CESEE) region. METHODS AND RESULTS: We obtained data regarding the national ACHD status for 19 CESEE countries from their ACHD representative based on an extensive survey for 2017 and/or 2018. Thirteen countries reported at least one tertiary ACHD centre with a median year of centre establishment in 2007 (interquartile range 2002-2013). ACHD centres reported a median of 2114 patients under active follow-up with an annual cardiac catheter and surgical intervention volume of 49 and 40, respectively. The majority (90%) of catheter or surgical interventions were funded by government reimbursement schemes. However, all 19 countries had financial caps on a hospital level, leading to patient waiting lists and restrictions in the number of procedures that can be performed. The median number of ACHD specialists per country was 3. The majority of centres (75%) did not have ACHD specialist nurses. The six countries with no dedicated ACHD centres had lower Gross Domestic Product per capita compared to the remainder (P = 0.005). CONCLUSION: The majority of countries in CESEE now have established ACHD services with adequate infrastructure and a patient workload comparable to the rest of Europe, but important gaps still exist. ACHD care is challenged or compromised by limited financial resources, insufficient staffing levels, and reimbursement caps on essential procedures compared to Western Europe. Active advocacy and increased resources are required to address the inequalities of care across the continent.

Clinical and genetic challenges in a family with history of childhood polyp, aortopathy, and clinical diagnosis of hereditary hemorrhagic teleangiectasia (HHT).

Hereditary hemorrhagic teleangiectasia (HHT) is a genetic disorder, characterized by abnormal vessel formation and arteriovenous malformations (AVMs). The so-called "Curaçao criteria" are most commonly employed for the purposes of clinical diagnosis. However, children may not exhibit the full magnitude of symptoms and the Curaçao criteria appear to be less sensitive in this setting. We describe a family, in which two members were clinically diagnosed with HHT and referred for genetic testing. As there were phenotypic features suggesting the high likelihood of combined syndrome of juvenile polyposis with hereditary hemorrhagic teleangiectasia (JPHT), we proceeded with genetic testing of SMAD4 gene as initial step, which revealed a novel frameshift mutation. This case shows the variety of challenges that clinicians and genetic laboratories may face in complex cases such as combined JPHT syndrome. Knowledge of the syndrome features is of paramount importance as they could frequently point at the most appropriate gene to be tested.

Endovascular repair of dissecting thoracic aortic aneurysm in a patient with Turner syndrome.

PURPOSE: To report a rare case of dissecting thoracic aortic aneurysm in a young patient with Turner syndrome owing to complete or partial monosomy of the X chromosome. CASE REPORT: A 22-year-old patient with Turner syndrome presented with a 2-month history of voice loss and dysphagia. Multislice computed tomography (MSCT) disclosed a large (53x75-mm) aneurysm with focal dissection affecting the distal part of the aortic arch and the proximal descending aorta, partially involving the left subclavian artery. A TAG endoprosthesis was implanted without complications. MSCT scans at 3 and 6 months after the procedure showed good position and patency of the stent-graft, with total exclusion and shrinkage of the aneurysm. After 1 year of follow-up, she is doing well, without voice disturbances or dysphagia. CONCLUSION: Although cardiovascular malformations are common in patients with Turner syndrome, dissecting thoracic aortic aneurysm is unusual. Stent-graft repair would appear to be feasible in this situation, but long-term implantation in young patients has not been explored.