(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 …

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(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-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. …

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(III-2A) 19-year-old patient with Down syndrome, with hypertrophic cardiomyopathy, after correction of congenital heart disease: ASD II, VSD, PDA Prof. Piotr Podolec MD PhD, Monika Smaś-Suska MD, Lidia Tomkiewicz-Pająk MD, Maria Olszowska MD PhD

Background Hypertrophic cardiomyopathy (HCM) is the most common monogenic cardiac disorder and has been estimated to occur in one of every 500 persons in the general population. The mortality due to HCM is estimated at 1% per year and it is the most common reason of sudden death (especially in young athletes). The natural history of HCM can be altered by a number of therapeutic interventions: ICDs for secondary or primary prevention of sudden death in patients with risk factors, …

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