(III-3A.3) 32-year-old-patient with cardiac sarcoidosis Justyna Błaut-Jurkowska MD, Klaudia Knap MD, Prof. Maria Olszowska MD, PhD, Prof. Piotr Podolec MD, PhD

  EXPERTISE 1 EXPERTISE 2 EXPERTISE 3 “Development of the European Network in Orphan Cardiovascular Diseases” “Rozszerzenie Europejskiej Sieci Współpracy ds. Sierocych Chorób Kardiologicznych”

Posted in 3. Restrictive cardiomyopathy, 3. Sarcoidosis, A. Infiltrative, Case presentations, III. Rare diseases of the heart (cardiomyopathies) | Leave a comment

(III-3A.2) A patient with multiple myeloma and suspected cardiac amyloidosis Piotr Liszniański MD, Jacek Nowak MD, PhD

  EXPERTISE 1 EXPERTISE 2 “Development of the European Network in Orphan Cardiovascular Diseases” “Rozszerzenie Europejskiej Sieci Współpracy ds. Sierocych Chorób Kardiologicznych”

Posted in 2. Amyloid, 3. Restrictive cardiomyopathy, A. Infiltrative, Case presentations, III. Rare diseases of the heart (cardiomyopathies) | Leave a comment

(III.5A) Hypertrophic cardiomyopathy with left ventricular outflow tract obstruction Natalia Dłużniewska MD; Leszek Drabik MD, PhD; prof. Maria Olszowska MD, PhD; Prof. Piotr Podolec MD, PhD

  EXPERTISE 1 EXPERTISE 2 EXPERTISE 3 EXPERTISE 4 “Development of the European Network in Orphan Cardiovascular Diseases” “Rozszerzenie Europejskiej Sieci Współpracy ds. Sierocych Chorób Kardiologicznych”

Posted in 5. Unclassified cardiomyopathies, A. Left ventricular noncompaction, Case presentations, III. Rare diseases of the heart (cardiomyopathies) | Leave a comment

(III-1A.5.o) 49-year old female with cardiac failure and mitochondrial myopathy M. Dzieciuch-Rojek, P. Rubiś MD, PhD, S. Wiśniowska-Śmiałek MD, J. Stępniewski MD, D. Kudliński MD, A. Leśniak-Sobelga MD, PhD, M. Kostkiewicz MD, PhD, Prof. P. Podolec MD, PhD

  BRIEF COMMENTS EXPERT: Assoc. Prof. Bogusław Kapelak MD, PhD Affiliation: Department of Cardiovascular Surgery and Transplantology, John Paul II Hospital, Krakow, Poland COMMENT There are indications for heart transplantation in this patient. A very important issue is the comprehensive assessment of the patient before surgery, in particular neurological evaluation for possible post-operative complications (if there is a risk of respiratory failure) and the ability of the patient to participate in post-transplant rehabilitation. EXPERT: Prof. Andrzej Rudziński MD, PhD Affiliation: …

Posted in 1. Dilated cardiomyopathy, 5. Medication-induced, A. Genetic, Case presentations, III. Rare diseases of the heart (cardiomyopathies) | Leave a comment

(III-2B ) 61-year-old male with hypertrophic cardiomyopathy Joanna Łuszczak MD, Agnieszka Żygadło MD, Lidia Tomkiewicz-Pająk MD, PhD, Prof. Maria Olszowska MD, PhD, Prof. Piotr Podolec MD, PhD

  BRIEF COMMENTS EXPERT: Prof. Roland Hetzer, MD, PhD Affiliation: German Heart Instiute, Berlin, Germany COMMENT Hemodynamic parameters in the check-up TTE do not differ much from the previous findings. What is more important – the LVOT pressure gradient remains high. I recommend full possible spectrum of pharmacotherapy (for example addition of disopiramide) and cardiosurgical consultation. Currently in this patient cardiosurgical risk is low and I would consider hybrid surgical treatment – septal myectomy with MV annuloplasty (in order to …

Posted in 2. Hypertrophic cardiomyopathy, B.Nonsarcomeric protein mutations, Case presentations, III. Rare diseases of the heart (cardiomyopathies) | Leave a comment

(III-5A.1.o) 27-year-old patient with Left Ventricular Noncompaction and impaired systolic function Jakub Stępniewski MD, Paweł Prochownik, Grzegorz Kopeć MD, PhD

  BRIEF COMMENTS EXPERT: Lidia Tomkiewicz-Pająk MD, PhD Afiliacja: Department of Cardiac and Vascular Diseases, John Paul II Hospital, Krakow, Poland COMMENT Due to good exercise tolerance, physical abstinence from alcohol and increased cardiac monitoring of the patient during the current pharmacotherapy with psychological support is proposed. Due to the history and characteristics of alcoholic liver damage ASA as the prevention of thromboembolic complications is preferred. Furthermore, in case of heart transplant indications alcoholism is disqualifying factor from this operation, …

Posted in 1. Genetic causes of LVNC, 5. Unclassified cardiomyopathies, A. Left ventricular noncompaction, Case presentations, III. Rare diseases of the heart (cardiomyopathies) | Leave a comment

(III-2B.2a) Induction of intraventricular pressure gradient during replacement enzyme therapy (ERT) Paweł Petkow-Dimitrow, Danuta Sorysz 2nd Deparment of Cardiology CMUJ

Brief Comments and Conclusion EXPERTISE 1 EXPERTISE 2 EXPERTISE 3

Posted in 2. Hypertrophic cardiomyopathy, 2. Lysosomal storage disease, B.Nonsarcomeric protein mutations, Case presentations, III. Rare diseases of the heart (cardiomyopathies) | Leave a comment

(III-1A.1) 24 years old male with ventricular arrhythmia and family history of dilated cardiomyopathy and sudden cardiac deaths. Jakub Stępniewski MD, Paweł Rubiś MD, PhD, Agata Leśniak-Sobelga MD PhD, Magdalena Kostkiewicz MD, PhD.

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Background Dilated cardiomyopathy (DCM) is a clinical condition in which left ventricle (LV) dilation and subsequent impairment of its systolic function is caused by primary myocardial dysfunction [1]. The potential causes of LV dilation are vast and include myocardial destruction in the course of coronary heart diseases, toxic, infectious, or metabolic reasons [1 ESC]. Approximately 20-35% of cases with undetermined etiology are expected to have a familial form of DCM [2]. Familial DCM (FDCM) is in the vast majority a …

Posted in 1. Dilated cardiomyopathy, A. Genetic, Case presentations, III. Rare diseases of the heart (cardiomyopathies) | Leave a comment

(III-2B) Hypertrophic cardiomyopathy (HCM) in complex with chronic respiratory failure caused by kyphoscoliosis Prof. R.Benetis MD, PhD, Prof.; E.Ereminienė MD, PhD, Prof.; N.Stoškutė, Assist. Prof.; S.Miliauskas MD, PhD, Prof.; R.Ordienė, MD,.; D.Hoppenot, M.D.PhD.

Background Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is typically inherited in an autosomal dominant fashion with variable penetrance and variable expressivity. The disease has complex symptomatology and potentially devastating consequences for patients and their families. [1] The goals of treatment for hypertrophic cardiomyopathy are to relieve symptoms and prevent sudden cardiac death in those at high risk. When HCM is complex with significant comorbidity, such as chronic respiratory failure, it remains even difficult to choose the best treatment. …

Posted in 2. Hypertrophic cardiomyopathy, B.Nonsarcomeric protein mutations, Case presentations, III. Rare diseases of the heart (cardiomyopathies) | Leave a comment

(III-3E) 33- year old male with restrictive cardiomyopathy and peripheral muscle weakness Jakub Stępniewski MD, Hanna Dziedzic-Oleksy MD, Grzegorz Kopeć MD. PhD, Piotr Wilkołek MD. PhD, Prof. Piotr Podolec MD. PhD.

Background Restrictive cardiomyopathy (RCM) is a rare disease of the heart muscle [1]. Its principal abnormality is diastolic dysfunction—specifically, restricted ventricular filling with reduced diastolic volume of either or both ventricles with normal or near-normal systolic function and wall thickness. RCM may be idiopathic, familial, or result from various systemic disorders, in particular, amyloidosis, sarcoidosis, carcinoid heart disease, scleroderma and anthracycline toxicity [2]. The course of RCM varies, depending on the pathology and treatment, but is often unsatisfactory. Several forms …

Posted in 3. Restrictive cardiomyopathy, Case presentations, E. Desminopathy, III. Rare diseases of the heart (cardiomyopathies) | Leave a comment