Severe Dilated Cardiomyopathy Due to
Polycythemia Vera - A Rare Etiology
Muhammad Imran Butt1* and Mudassar Latif2
1Medical Registrar, Sir Charles Gairdner Hospital Western Australia, Australia
2Medical Registrar, Sir Charles Gairdner Hospital Western Australia, Australia
Submission: October 28, 2019; Published: November 05, 2019
*Corresponding author: Muhammad Imran Butt, Department of Medicine, Sir Charles Gairdner Hospital Hospital Avenue, Nedlands, Perth, WA, 6009, Australia
How to cite this article:Muhammad Imran Butt, Mudassar Latif. Severe Dilated Cardiomyopathy Due to Polycythemia Vera - A Rare Etiology. J Cardiol &
Cardiovasc Ther. 2019; 15(2): 555909. DOI: 10.19080/JOCCT.2019.15.555909
Polycythemia vera (PV) is a myeloproliferative disorder characterised by panhyperplastic bone marrow with most prominent feature of increased red cell mass resulting from excessive erythropoiesis. This translates to sludging of blood flow due to hyperviscosity and thrombosis leading to poor oxygen delivery to tissues. Thrombosis of cardiovascular system is extremely rare in PV with limited data available in literature. We describe a case of a 40-year old gentleman with new onset of severely dilated cardiomyopathy secondary to PV. The likely pathophysiological mechanism is the necrosis of the cardiac myocytes due to micro-thrombi.
A 40-year old gentleman presented with history of exertional dyspnoea over 2 months. He had decreased exercise tolerance from New York Hear Association class I to class III in 2 months. He also reported orthopnea and paroxysmal dyspnoea for last 2 weeks of his presentation. He did not report any chest pain, palpitations, diaphoresis or dizziness. He had no symptoms of cough, fever, weight loss or any other symptoms to suggest systemic infection. He had no significant past medical or surgical history and was not taking any medications. Family history did not reveal any cardiac diseases including any sudden deaths. He never smoked cigarettes and consumed alcoholic occasionally. There was no history of drug abuse and did not report of having excessive energy drinks.
On examination, his respiratory rate was 18, pulse rate 70 and regular with blood pressure of 125/85 and was afebrile.
Cardiovascular examination revealed a displaced apex beat with dual heart sounds and no murmurs. Jugular venous pulse was not elevated and had bi basal coarse crackels on auscultation of his chest. Abdominal examination did not reveal any organomegaly and there was no peripheral edema.
Blood tests showed haemoglobin of 19.5g/dl with haemocrit of 51.5% and normal platelets and white cell counts. The diagnosis
of polycythemia vera was confirmed on the basis of positive JAK2 mutation.
Chest X ray showed cardiomegaly with mild interstitial edema. A trans-thoracic echocardiogram showed severe dilated cardiomyopathy with ejection fraction of 18%.
He underwent a coronary angiogram which showed normal coronary arteries ruling out ischemic cardiomyopathy. Other blood tests including comprehensive metabolic panel, thyroid functions, genetic screening and urine toxicology screening were all within normal limits.
A magnetic resonance imaging (MRI) of heart revealed
widespread enhancing fibrous replacement of the left ventricular
myocardium most extensive in anterior wall, inferior wall and apex
(Figure 1 & 2) with high grade subepicardial to near- transmural
involvement and mild hypokinesis of the right ventricular free
wall with some thinning of the apex, but no significant delayed
hyper-enhancement. Ejection fraction was 17% and there was
no valvular pathology. A rare diagnosis of cardiomyopathy due
to PV was suspected. However, patient refused to undergo an
endomyocardial biopsy to confirm the diagnosis.
For polycthemia he was started on Aspirin 100mg daily and
weekly phlebotomy. For cardiomyopathy he was commenced on
Ramipril and Bisoprolol with dose up titration regimen. He also
required intravenous frusemide during admission and 40mg oral
tablet on discharge. A regular follow up after 3 months showed
markedly improved symptoms and echocardiogram showed
improved ejection fraction to 42%. Patient has regular follow up
with cardiology and haematology.
Polycythemia vera is a rare chronic myeloproliferative
disorder manifested by clonal proliferation of morphologically
variable myeloid cells with different haematopoietic efficiency
and is distinguished from other myeloproliferative disorders by
elevated red cell mass. Patients with PV have increased risk of
both arterial and venous thrombosis as well as haemorrhage.
Although the exact mechanism of hypercoagulability is not
clear, abnormalities in blood viscosity, leukocytes and platelets
have been implicated . Thrombosis in the large vessels is
a rare complication. Very few cases have been reported in
literature with massive intra-cardiac thrombi leading to heart
failure [2,3]. In international literature, there is only one biopsy
proven case reported with dilated cardiomyopathy secondary to
microvascular thrombosis and hyperviscosity . There was also
a case of Takotsubo cardiomyopathy associated with PV which
was believed to be due platelet-mediated adrenaline release from
massive thrombocytosis acting as a physical stressor .
Although our patient denied to consent for endomyocardial
biopsy, the absence of intra-cardiac thrombosis or the features
of takotsubo cardiomyopathy on echocardiogram makes the
hypothesis of microvascular myocytes necrosis as the only
possible pathophysiology of cardiomyopathy. However, the
direct association of PV with dilated cardiomyopathy is not
straightforward and requires the exclusion of other possible
causes. As our patient underwent all investigations and other
possible aetiologies were ruled out, the diagnosis of dilated
cardiomyopathy secondary to PV is likely. The only other
possibility would be idiopathic cardiomyopathy in a patient of
Chronic oxidative stress results in fibrosis of the myocardium
 which in ischemic cardiomyopathy starts subendocardially
and then progresses to transmural and the subendocardial region
unlike non-ischemic cardiomyopathy which is often epicardial
rather than trans-mural or subendocardial [7,8].
Considering the previous case reports proving the association
of cardiomyopathy with haematological diseases [4,9] and
absence of other causes indicates a direct association of PV with
Polycythemia vera is a rare aetiology of cardiomyopathy not
often seen in literature and should be considered in patients with previous history or new diagnosis of PV associated with
heart failure. The recognition of this association will determine
treatment and prognosis in such patients.
We hope that this case along with others will bring forward
similar observations in future and help in better understanding
the pathophysiology and management of heart failure in patient
with polycythemia vera.
Muhammad Imran Butt – Acquisition of data, Drafting the
article, Substantial contributions to conception and study design,
Analysis and interpretation of data, revising it critically for
important intellectual content, Final approval of the version to be
Mudassar Latif - Revising it critically for important intellectual
content, Analysis and interpretation of data.