Pulmonary arterial hypertension (PAH) is a severe and progressive disease. Due to the narrowing of the blood vessels in the lungs, pul- monary vascular resistance and pulmonary pressures increase. This results in reduced cardiac output, right heart failure and ultimately in death. Pulmonary hypertension, particularly PAH, is an independent risk factor for both peri-operative complications and post-operative mortality. The peri-operative management of patients with PAH is particularly challenging and requires a multidisciplinary approach. Appropriate patient preparation requires an accurate assessment of the severity of pulmonary hypertension, comorbidities and the type of surgery to be performed. Additionally, patients with PAH are more likely to develop an infection, particularly of the respiratory system. Infections are important risk factors for disease exacerbation, often affecting prognosis. For this reason, there is a need for effective prophylactic, diagnostic and rapid therapeutic strategies in PAH patients admitted with suspected infection. While pregnancy is not con- sidered a disease, it is associated with a significant mortality and morbidity risk in patients with PAH and therefore it is contraindicated in this group. Thus, the proper education of patients and effective contraception are necessary in order to minimize health risks. If a woman decides to maintain her pregnancy, careful monitoring, specific treatment optimization and close co-operation with an obstetrician are needed. The proper assessment of the severity of PAH and the optimization of specific treatments are crucial to improve the prognosis of PAH patients in all high-risk conditions. Additionally, the early diagnosis of high-risk conditions allows for early intensive treatment or control, which should be performed at a PAH treatment referral centre. JRCD 2018; 3 (6): 194–198

Rare diseases and disorders constitute important clinical problems. There are many concerns among physicians while planning the diagnostic and treatment process of such a heterogenous group of patients. These concerns arise not only from the rarity of cases, but also from multiple gaps in knowledge on the management of patients with rare diseases and disorders. The commonly accepted prevalence of rare diseases and disorders is 1 per 2 000 in the general population or less. Incidental prevalence and multiplicity of comorbidities result in an inability to gather enough experience at any single centre. Thus, cooperation and the exchange of ideas is important for the management of patients with rare diseases. Classification of rare cardiovascular diseases and disorders (RCDD) is crucial for expanding knowledge in the field of RCDD. It consists of an overview of RCDD, facilitates clinical approaches to patients and makes the creation of registries and databases easier. We hope that the updated RCDD classification will aid medical practice through the contribution to progress in diagnostics and therapy. It also serves as a summary of scientific achievements in the field of RCDD. Without the grouping of specific disorders, it is very difficult to create diagnostic and therapeutic algorithms. The Classification of RCDD was published for the first time in the Journal of Rare Cardiovascular Diseases (JRCD) in 2013 [1]. RCDD classification was discussed during the 2013 European Society of Cardiology Congress held in Amsterdam (www.crcd.eu/?p=2800) and in international journals, including a recent publication of the European Heart Journal [2, 3]. Clinical classification of RCDD takes into account major clinical symptoms and pathologies and is based on common clinical and/or anatomical features.

We present the case of a patient with a large coronary fistula.Coronarography of the patient admitted to the Cardiology Department with STE‑ACS revealed a large fistula from the circumflex branch of the left coronary artery to the right atrium. The patient underwent successful percutaneous embolisation with three vascular coils. Currently he is under close ambulatory observation. JRCD 2018; 3 (7): 243–245.

Treatment of Fabry disease has improved since the introduction of enzyme replacement therapy (ERT). Two preparations of the recombinant enzyme α‑galactosidase A are available: agalsidase alfa and agalsidase beta. We aim to report on a disease improvement after switching therapy from agalsidase alfa to agalsidase beta in a patient with Fabry cardiomyopathy. We present a case of a 60‑year‑old male with chronic renal failure and hypothyroidism, diagnosed with Fabry disease in 2010. We investigated clinical changes in this patient during the 12‑months follow‑up. At the time of diagnosis, transthoracic echocardiogram (TTE) and cardiac magnetic resonance (CMR) showed widespread transmural inferolateral late enhancement (LE), poor ejection fraction and severe left ventricular hypertrophy. Despite of initiation of ERT with agalsidase alfa, clinical status of the patient did not improve. A shift to agalsidase beta was made, what resulted in marked betterment. Effectiveness of ERT on Fabry cardiomyopathy primarily depends on the stage of disease at baseline, since ERT may provide limited benefits in patients with evidence of fibrosis in CMR. Switch from agalsidase alfa to agalsidase beta may be needed in some patients, who do not improve on the first‑line therapy. JRCD 2018; 3 (6): 210–213

We discuss a 56‑year‑old man with Fabry disease (FD), a genetic X‑linked glycolipid storage disorder. The patient presented at the Emergency Room in a local hospital due to tachycardia‑associated chest pain, which had occurred occasionally in the past, but on that occasion was long‑lasting (>12h) and distressing. The patient had been diagnosed with FD at the age of 42. He presented a range of symptoms characteristic for the condition, including hypertrophic cardiac myopathy with impaired left ventricular relaxation, angiokeratomas, cornea verticillata, hypohydrosis and acroparesthesia. Residual alpha‑galactosidase A activity at diagnosis was ≈3%. The Enzyme Replacement Therapy (ERT) with the agalsidase alpha was induced. A year later pacemaker implantation was performed due to sick sinus syndrome with symptomatic, severe episodes of bradycardia. The initial diagnosis was tachycardia‑associated chest pain with troponin release in the context of FD left ventricular hypertrophy. However, a decision was made to perform an urgent angiographic evaluation to exclude coronary pathology as a potential factor in the clinical picture. Coronary angiography showed a critical, flow-limiting, stenosis of the left anterior descending artery (LAD) which changed the initial type 2 myocardial infarction (MI) diagnosis to the type 1 MI. Percutaneous stent‑assisted treatment was performed with an optimal angiographic and clinical outcome. However, 5 days later the patient developed a minor left hemispheric ischaemic stroke. In conclusion, the clinical course of a rare pathology such as FD may be importantly complicated by other (more common) pathologies. Physicians, in their diagnostic and therapeutic decision‑making, need to be open to thinking beyond the patient label. JRCD 2018; 3 (7): 246–252

We report a case of a 56-year-old female after breast cancer treatment, who was diagnosed with left atrial myxoma as a rare cause of cerebral and cerebellar stroke.JRCD 2017; 3 (5): 168–170

Clinical manifestation of Brugada syndrome (BrS) mainly results from polymorphic ventricular arrhythmias and includes sudden cardiac arrest (SCA). The Brugada sign, besides being present in true BrS, may result from different causes. Moreover, electrocardiogram findings in some clinical situations may resemble the BrS electrocardiographic pattern. Thus, differential diagnosis is crucial in the proper management of patients suspected of having BrS. Lifestyle modifications and close follow-up with or without pharmacologic treatment and/or implantable cardioverter-defibrillator placement constitute the most common approach to managing BrS patients. However, the role of ablation in BrS treatment is increasing. Due to diagnostic and therapeutic difficulties, the management of BrS is often challenging. This review provides new concepts and algorithms in the diagnostics and treatment of patients suspected of having BrS. JRCD 2017; 3 (5): 151–160

Congenital heart disease (CHD) is the most common developmental anomaly and is found in about 1% of all live-born children. Recent progress in cardiac surgery and pediatric cardiology has resulted in large numbers of adult patients who have undergone surgical correction of complex congenital heart defects. It is estimated that about 85% of newborns with heart defects will reach adulthood.

Pneumothorax is defined as the occurrence of air in the pleural space. From a clinical standpoint, pneumothorax can be classified as spontaneous (without an obvious triggering factor) or nonspontaneous. Primary spontaneous pneumothorax (PSP) is defined as the spontaneous presence of air in the pleural space in patients without clinically apparent lung disease. We present a case of a 26‑year old man who reported chest pain at rest. A standard chest x‑ray (CXR) picture on inspiration did not reveal any severe pathology, but a second imaging on expiration showed a large pneumothorax. In this case, the pneumothorax would have been undetected if only the inspiratory CXR was used. Lung ultrasonography (USG) can be used to diagnose radio‑occult pneumothoraxes independent of the respiratory phase of the patient. JRCD 2018; 3 (7): 236–238