Leśniak‑Sobelga
Pregnant woman with Ebstein’s anomaly Agata Leśniak‑Sobelga, Lidia Tomkiewicz‑Pająk, Jacek Pająk, Piotr Podolec Full Text: PDF Abstract A 34-year-old female with Ebstein’s anomaly presented to our centre at 19th week of her fi rst pregnancy with a history of dyspnea, palpitations and syncopes. Echocardiogram showed typical signs of Ebstein’s anomaly with severe tricuspid regurgitation, […]
Petkow Dimitrow
Heart in Fabry Disease Petkow Dimitrow Full Text: PDF Abstract Fabry disease is one of the lysosomal storage disorders, that results from progressive multiorgan accumulation of glycoproteins. It is caused by mutations of the GLA gene, which encodes alpha-galactosidase A. The incidence of Fabry disease is estimated at the level of 1:55 000 male births, […]
Aymé
Rare diseases: a priority in public health and research Ségolène Aymé Full Text: PDF Abstract Since the 1990s at both European Union (EU) and country level political concepts and initiatives concerning rare diseases have emerged. At European level, there are currently three key policy documents establishing a political framework for action in the field of rare diseases and orphan medicinal […]
Podolec
JRCD: a means to improve standards of care in rare cardiovascular diseases Piotr Podolec Full Text: PDF Abstract Dear Friends and Colleagues, Dear Readers, I hope you will not mind me starting this Editorial with addressing, at first, Friends and Colleagues. This reflects the spirit of our new Journal. Our Friends and Colleagues have actively participated, over […]
Musiałek
2nd Symposium on Rare Cardiovascular Diseases – ESC Munich 2012: Chairperson’s Perspective Piotr Musiałek Full Text: PDF Abstract In response to interest generated by the 1st Satellite Symposium on Rare Cardiovascular Diseases (Paris, ESC 2011), a session devoted to managing patients with rare cardiovascular diseases was organized this year again, at the annual congress of the ESC, by the team of […]
Wieteska
A 35-year old man with dyspnea on exertion, history of acute pulmonary embolism and ischaemic stroke Maria Wieteska, Piotr Szatkowski, Adam Torbicki Full Text: PDF Abstract We present a case of a 35-year old man with a history of an acute pulmonary embolism and ischaemic stroke, who after several weeks of adequate antithrombotic treatment […]
Rubiś
Left ventricular non-compaction with congenital diaphragmatic hernia causing cardiac dextroposition Paweł Rubiś, Tomasz Miszalski-Jamka, John GF Cleland, Zbigniew Gąsior, Jakub Podolec, Magdalena Kostkiewicz, Agata Leśniak‑Sobelga, Maciej Krupiński, Piotr Podolec Full Text: PDF Abstract A 45-year-old man with a 2-month history of breathlessness, fatigue and irregular heart rate was referred to our centre after first-ever […]
Ereminien
Giant cell aortitis of the ascending aorta without signs and symptoms of systemic vasculitis Egl Ereminien, Rimantas Benetis, Remigijus Žaliūnas, Monika Biesevičienė Full Text: PDF Abstract We report a case of a patient with giant cell aortitis – a rare cause of aneurysm of the ascending aorta. Modern imaging techniques show promise in diagnosis, […]
Nowacka
Nitric oxide vs Sildenafil for pulmonary artery reactivity testing in heart transplantation candidates Magdalena Nowacka, Grzegorz Kopeć, Jakub Stępniewski, Piotr Podolec Full Text: PDF Abstract In idiopathic pulmonary arterial hypertension (IPAH) nitric oxide (NO) is an agent of choice for pulmonary artery (PA) reactivity testing. Contrary, currently there is no standardized protocol for PA […]
