Pulmonary arterial hypertension (PAH) is a rare disease with a high mortality and complex pathomechanism. Recent studies suggest an important role of genetic factors in the development of PAH. It was shown that patients with BMPR2 mutations present a disease at an earlier age and have more severe haemodynamics at diagnosis. Interestingly, in this disorder lifelong penetrance is estimated to be only about 20% and the mechanism of this phenomenon remains unknown. More recent studies focused on the mutational analysis of genes involved in TGFs signaling pathway in patients with PAH. The results of these studies are very promising but they still need to be confirmed. Moreover, data on the impact of identified mutations on the clinical course, PAH-specific treatment and prognosis in PAH is required. In Poland a multi-center study is planned to include patients from referral centers for pulmonary hypertension with diagnosed idiopathic, hereditary and drug-induced PAH or of pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH). The aim of the study is to perform an extended molecular analysis for better understanding the molecular basis of pathogenesis of PAH, incomplete penetrance and to create an algorithm of molecular diagnosis of PAH patients. On the basis of the nationwide registry of patients with PAH treated in referral centers in Poland the effect of the detected mutations on the clinical course, the effect of PAH-specific treatment and the prognosis in PAH will be assessed.

Background : Pulmonary hypertension (PH) is a cardiovascular pathology leading to right-sided heart failure. A qualitative assessment of right ventricular (RV) function in echocardiography provides valuable information on a patient’s condition. The standard echocar- diographic parameter, assessed in PH patients, is RV free wall motion. Aim : To verify the utility of RV free wall motion assessment via echocardiography in PH patients. Methods : Data from 30 PH patients, regardless of aetiology (except for left heart disease), was retrospectively analyzed. Based on the RV free wall motion visual echocardiographic assessment the population was divided into: group 1- normokinetic; group 2- hypokinetic RV. All patients underwent a medical interview, physical examination, basic laboratory work-up, echocardiography, and right heart catheterization (RHC). Twenty-one patients underwent a cardiopulmonary exercise test (CPET). Results : The analysis revealed, that patients with RV free wall hypokinesis were characterized by impaired gas exchange parameters (higher values of ventilatory equivalents for oxygen and carbon dioxide, higher end-tidal oxygen pressures, lower end-tidal carbon dioxide pres- sures and higher minute ventilation – carbon dioxide production relation slope) and cardiovascular response to exercise (lower increase in O2 pulse during exercise) obtained in the CPET. RHC showed that patients with hypokinetic RV had higher diastolic and mean pul- monary artery pressures (dPAP, mPAP), lower cardiac index, and higher pulmonary vascular resistance. Conclusions : RV free wall motion abnormalities, assessed using echocardiography in PH patients, are found in those with more advanced disease. They are characterized by impaired ventilation in the CPET and more advanced haemodynamic abnormalities in RHC. The association between this parameter and prognosis requires validation in a larger population of patients. JRCD 2017; 3 (5): 161–167

Background: Efficacy of pulmonary arterial hypertension (PAH)-specific therapy may differ among the patients depending on the PAH aetiology. Aim: To compare the real‑life efficacy of PAH‑specific therapy between non‑congenital heart disease (non‑CHD) and CHD groups of PAH patients and to determine whether an early clinical response has an impact on prognosis. Methods: Clinical data from 41 PAH patients, 21 non‑CHD and 20 CHD patients, were included in the study. The WHO functional class (WHO‑FC), 6‑minute walk distance (6MWD) and NT‑proBNP serum level were compared at baseline and after 1 and 7 months of PAH‑specific treatment. Only patients with unmodified PAH‑specific therapy during 7‑month follow‑up were enrolled in the study. Results: Baseline characteristics revealed higher WHO‑FC and increased [loge]NT‑proBNP levels (7.74 ±1.05 vs 6.51 ±1.48; p = 0.008) in non‑CHD vs. CHD patients; baseline 6MWD was similar in both groups (283.3 ±148.5 m vs 339.2 ±114.7 m). Clinical improvement by at least one WHO‑FC after 1‑month treatment was observed more frequently in non‑CHD (55%) when compared with CHD patients (25%, p = 0.04) and was comparable (50% vs 50%) after 7‑month observation. Non‑CHD patients, who did not improve within 1 month of treatment were unlikely to achieve improvement after 7 months. The 6MWD increased during the first month of treatment in non‑CHD (p=0.009) and in CHD patients (p=0.006) when compared to baseline values and remained at this level after 7 months of treatment. [Loge]NT‑proBNP levels markedly declined only in non‑CHD patients, who had an improvement in WHO‑FC (8.0 ±1.0 vs 7.4±1.1, p=0.04) in the first month. In CHD patients, the decrease in [loge]NT‑proBNP level was seen (6.5 ± 1.5 vs 6.1 ±1.5, p=0.04) only within a 1‑month observation. Conclusion: Efficacy of 1‑month PAH‑specific therapy is aetiology‑dependent and determines clinical outcome in patients with PAH. JRCD 2018; 3 (6): 199–204

We present a case of cardiac concussion (commotio cordis) resulting from blunt chest trauma injury in a professional athlete. The soccer player received frontal injury to the chest caused by another player’s knee during a training session. A few minutes of spontaneously relapsing unconsciousness ensued and the patient was admitted urgently for observation. Surface electrocardiogram showed dynamic alterations in the precordial leads, cardiac necrotic markers were only mildly elevated and cardiac magnetic resonance could not detect any injury‐related pathology. The athlete received conservative treatment. We discuss the differential diagnosis with cardiac contusion and Brugada syndrome. Electrocardiographic abnormalities persisted during the two‐week follow‐up. The patient successfully continues his professional soccer career. JRCD 2017; 3 (5): 171–175

We present the case of a 79‑year‑old woman with critical right internal carotid artery stenosis in whom carotid artery stenting was performed via a right radial artery approach with the use of a novel integrated embolic protection technology- Paladin System® (Contego Medical). JRCD 2018; 3 (7): 239–242

Hypertrophic cardiomyopathy (HCM) is a primary disease of the myocardium that is defined by the presence of regional (more frequent) or global myocardial hypertrophy, which usually results in functional cardiac impairment. We present a case of a 34-year-old man with apical HCM who was admitted to the cardiology department due to cardiac hypertrophy in the echocardiogram. The management of HCM patients is directed at heart failure treatment and decreasing left ventricular outflow tract or intraventricular gradient, if present. According to the patient’s calculated 5-year mortality risk, assessed using the HCM Risk-SCD Calculator, indications for implantation of an implantable cardioverter defibrillator were evaluated. JRCD 2017; 3 (5): 180–183

We present to you the fourth and final issue of Journalof Rare Cardiovascular Diseases (JRCD) for 2017.

Dobutamine stress echo (DSE) allows for a relatively safe and accurate assessment of ischaemia in patients, who are unable to exercise. Side effects of DSE include nausea, vomiting, and in certain cases, excessive rise and fall in blood pressures. However, in the setting of an intrinsic catecholamine surge, dobutamine stress testing can lead to transient ventricular ballooning. Here, we report a case of a 66‑year‑old female who developed chest pain with ST‑segment elevation on electrocardiogram (ECG) along with wall motion abnormalities seen on transthoracic echocardiogram (TTE) during dobutamine stress testing. Her urgent coronary angiogram showed non‑obstructive coronaries with systolic mid‑anterolateral and antero‑septal wall ballooning on left ventriculogram with basal and apical sparing. The ECG changes resolved prior to discharge and cardiac function returned to normal on follow‑up at 3 months. The absence of obstructive coronary lesions with wall motion abnormalities on TTE and left ventriculogram, followed by the return of cardiac function to normal on follow‑up TTE highlights this case as a unique occurrence of a dobutamine‑induced, mid‑ventricular variant, atypical takotsubo cardiomyopathy. To the best of our knowledge, this is the first case of mid variant atypical takotsubo cardiomyopathy occurring secondary to dobutamine administration reported from the Indian subcontinent. The occurrence of this phenomenon points towards an extremely rare effect that may occur as a consequence of stress testing with dobutamine. JRCD 2018; 3 (6): 214–218.