(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.

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 of RCM may present with accompanying neuro-muscular conditions including peripheral muscles. Sarcomeric proteins mutations, desminopathies, lamininopathies or inclusion bodies myopathies may lead to such presentations. These are inherited conditions and their diagnosis requires multidisciplinary approach. Natural history and prognosis is poorl understood yet.

Case presentation
We present a case of a 33-year old man with signs of chronic heart failure and the history of several severe cardiopulmonary decompensations was admitted to our Centre in March 2012 for cardiologic evaluation. He had been fully physically active until the heart condition was first diagnosed in 2007 after an acute heart failure episode. Suspicion of a Restrictive cardiomyopathy (RCM) was then made based on a cardiac echo study. Following detailed evaluation was performed detecting no abnormalities in coronary arteries on coronary angiography, multiple ventricular and supraventricular extrasystoles and Ist degree atrio-ventricular block (AVB) on 24- hour Holter ECG monitoring. Unremarkable changes on cardiac magnetic resonance (CMR) were found indicating possible myocarditis or arrhythmogenic right ventricular dysplasia. Several months later another decompenstation occurred with an Adams- Stokes attack due to newly arose IIIrd AVB and cardiostimulator was implanted. On admission to our Centre he was haemodynamically unstable with signs of pulmonary congestion (class II by Killip score), peripheral oedema with ascites. He required high doses of diuretics. Laboratory workup showed elevated levels of NT-pro BNP, liver enzymes, troponin T, CK and CKMB and myoglobin. Echocardiographic evaluation revealed signs of RCM together with fluid overload and mildly decreased left ventricular ejection fraction of 40%. His exercise capacity was considered poor with 440 meters distance in 6- minutes walking test and oxygen consumption of 9 ml/(kg*min) in cardiopulmonary exercise test. Due to reported by the patient legs weakness, evident abnormalities in walking and elevation of muscle enzymes he was consulted with a neurologists, who confirmed the suspicion of myopathy and recommended electromyographic examination with peripheral muscle biopsy. Before the biopsy was performed the patient underwent right heart catheterization which revealed right and left ventricular failure, no signs of pulmonary hypertension and low transpulmonary gradient. Detailed evaluation of the biopsy confirmed the diagnosis of myopathy most probably as a form of miofibrillar myopathy. More precise diagnosis requires genetic evaluation. He now remains in our follow-up. His medical treatment includes high doses of diuretics: furosemide 160mg/day, spironolactone 100mg/day, torasemide 15mg/day, hydrochlorothiazide 25mg/day. Despite optimal medical treatment the patient’s clinical condition is gradually deteriorating.
Is he a good candidate for heart transplantation considering his clinical status and comorbidities? Is it necessary to confirm the diagnosis of myopathy in endomyocardial biopsy?

Current guidelines
ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure published in 2012 recommend that patients with end-stage heart failure with severe symptoms, a poor prognosis, and no remaining alternative treatment options, motivated, well informed, and emotionally stable, capable of complying with the intensive treatment required post-operatively should be considered for the heart transplantation [3].

1. Kushwaha SS, Fallon JT, Fuster V. Restrictive cardiomyopathy.N EnglJ Med.1997;336:267-76.
2. Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2008; 29:270-276.
3. McMurray JVJ, Adamopoulos S, Anker SD, et al. ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure 2012. The Task Force for the Diagnosis and Treatment of Acute and Chronic Heart Failure 2012 of the European Society of Cardiology. Developed in collaboration with the Heart Failure Association (HFA) of the ESC. EHJ 2012;33:1787–1847.


Expert’s comments:(Written authorization required from each expert)

1. Roland Hetzer, MD, PhD
This is a young patient with an end-stage heart failure. Despite optimal medical treatment his clinical condition is deteriorating. His further therapy should include heart transplantation.

Expert’s conclusions:
Further treatment of this patient should include heart transplantation. Complete pathomorphological evaluation together with genetic testing is crucial for decision making. Final qualification requires multidisciplinary approach.

Jakub Stępniewski MD1, Hanna Dziedzic-Oleksy MD1, Grzegorz Kopeć MD. PhD1, Piotr Wilkołek MD. PhD1, Prof. Piotr Podolec MD. PhD1.

Roland Hetzer, MD, PhD2

1Department of Cardiac and Vascular Diseases, Jagiellonian University College of Medicine, John Paul II Hospital, Krakow, Poland
2Medical Director and Chair of the Executive Management Board, DeutschesHerzzentrum, Berlin, Germany

This entry was posted in 3. Restrictive cardiomyopathy, Case presentations, E. Desminopathy, III. Rare diseases of the heart (cardiomyopathies). Bookmark the permalink.

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