A patient with polycystic kidney disease, hepatic cysts and atrial myxoma

Moustafa Alfishawy; Hatem Ali; Ahmed Daoud

doi:10.4103/1319-2442.235204

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CASE REPORT

Year : 2018 | Volume : 29 | Issue : 3 | Page : 723-727

A patient with polycystic kidney disease, hepatic cysts and atrial myxoma

Moustafa Alfishawy¹, Hatem Ali², Ahmed Daoud³
¹ Renal Department, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA
² Department of Renal Medicine, Heart of England Teaching Hospitals NHS Foundation Trust, Birmingham, UK
³ Renal Department, University of Arkansas For Medical Sciences, Arkansas, USA; Department of Internal Medicine, Cairo University Medical School, Cairo, Egypt

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Date of Submission	23-Mar-2017
Date of Decision	18-Apr-2017
Date of Acceptance	18-Apr-2017
Date of Web Publication	28-Jun-2018

Abstract

With the development of renal replacement therapy, cardiovascular complications have become the major cause of death in patients with polycystic kidney disease (PKD). Atrial myxoma is a cardiac abnormality that has been rarely reported with PKD. The presence of atrial myxomas is not free of complication as it can cause cardiac outflow obstruction and embolic manifestations ending up in death. Here, we report a case of a 44-year-old female who presented with PKD associated with atrial myxoma. A 44-year-old female presented to the emergency department unconscious with a history of sudden onset of dizziness and palpitation. An urgent electrocardiogram was done and showed supraventricular tachycardia. The patient was sedated and emergency synchronized direct current shock was delivered. She started to regain her conscious and her vital signs started to stabilize. Past medical history revealed our female had left atrial mass discovered 10 months earlier and was surgically excised one month before admission. Histological examination showed this mass was myxoma. Blood investigations at the time of admission showed deranged kidney functions. Urine analysis showed uric acid crystals and microscopic hematuria. Abdominal ultrasound showed bilateral polycystic kidneys, two hepatic right lobe cysts, and bilateral multiple renal stones. Cardiac abnormalities are serious complications that could be associated with PKD and are a major cause of death in this population. Atrial myxomas are a rare association with this condition. Further studies to identify other gene loci in PKD may provide an explanation for the associated cardiac abnormalities.

How to cite this article:
Alfishawy M, Ali H, Daoud A. A patient with polycystic kidney disease, hepatic cysts and atrial myxoma. Saudi J Kidney Dis Transpl 2018;29:723-7

How to cite this URL:
Alfishawy M, Ali H, Daoud A. A patient with polycystic kidney disease, hepatic cysts and atrial myxoma. Saudi J Kidney Dis Transpl [serial online] 2018 [cited 2023 Feb 8];29:723-7. Available from: https://www.sjkdt.org/text.asp?2018/29/3/723/235204

Introduction

Autosomal dominant adult polycystic kidney disease (ADPKD) is one of the major causes of end-stage renal disease with a prevalence of 1/1000 individuals.^[1] Despite that renal involvement is the most common characteristic of PKD, the disease causes a variety of major complications in other organs that manifest in the form of cystic and noncystic lesions.^[2] The severity of PKD varies significantly among patients, and some of its complications can be hindered with proper clinical management and lifestyle changes. With the development of renal replacement therapy, cardiovascular complications have become the major cause of death in this population.^[3] These complications include hypertension, left ventricular hypertrophy, aneurysms, and valvular abnormalities. The effects of the aortic and mitral valves are the predominant valvular abnormalities and mitral valve prolapse seems to be a characteristic finding in patients with PKD1 mutations.^[4] Atrial myxoma is a cardiac abnormality that has been rarely reported with PKD.^[5],[6] It is not a rare finding among the general population with prevalence of 0.28%.^[7] The presence of atrial myxomas is not free of complication as it can cause cardiac outflow obstruction and embolic manifestations ending up in death.^[7]

Here, we report a case of a 44-year-old female who presented to the renal department with deranged kidney functions and symptoms of low cardiac output. The primary cause of renal impairment was PKD. Further investigations showed the presence of atrial myxoma as a cause of the cardiac symptoms. We are tempted to highlight the possibility of the presence of atrial myxoma in patients with PKD and to highlight the pathological link between both conditions.

Case Report

A 44-year-old female patient presented to the emergency department unconscious with a history of sudden onset of dizziness and palpitation. Urgent electrocardiogram (ECG) was done and showed supraventricular tachycardia. Initial examination showed pulse rate of 150 beat/min, unmeasurable blood pressure, respiratory rate of 20/min, and temperature of 36.5°C. The patient was sedated and emergency synchronized direct current (DC) shock was delivered. She started to regain her conscious and her vital signs started to stabilize. Blood pressure after the DC shock was 110/70, pulse rate was 108 per minute, and repeated ECG showed normal sinus rhythm. Further history showed that the dizziness and palpitation started 3 h earlier of sudden onset and progressive course. It was associated with dyspnea with the absence of chest pain. Palpitations and dyspnea were not relieved by rest, and the patient gradually started to lose consciousness and was found lying on the ground. There were no associated convulsions, blurring of vision, or vomiting. There was no history of a cough, hemoptysis, or fever. There was no history suggestive of auto-immune diseases in the form of arthritis, skin rashes, oral, or genital ulcers. Furthermore, no history suggestive of liver diseases or bleeding tendency. Past medical history revealed our female had left atrial mass discovered 10 months earlier and was surgically excised 1 month before admission. Histological examination showed this mass was a myxoma. Further examination showed enlarged liver, palpable bilateral loin mass and median sternotomy scar. Blood investigations at the time of admission showed deranged kidney functions. Urine analysis showed uric acid crystals and microscopic hematuria. [Table 1] shows details of blood and urine investigations done. Abdominal ultrasound showed bilateral polycystic kidneys, two hepatic right lobe cysts and bilateral multiple renal stones. [Figure 1] and [Figure 2] show pictures of abdominal ultrasound done. There was no family history of atrial myxomas or PKD.

Figure 1: This is one of the images taken by the abdominal ultrasound of the patient which showed polycystic kidneys and hepatic cysts.

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Figure 2: Multiple cysts in left kidney.

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Table 1: Blood tests and urine analysis at time of admission.

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Discussion

The association between PKD and atrial myxoma is extremely rare. To the best of our knowledge, there were only two reported cases so far. The first was in 1989 in the UK. She was a 79-year-old female, known to have ADPKD. PKD, who presented to the emergency room with atrial fibrillation with a rapid ventricular response. After rate control, cardiac auscultation revealed a mid-diastolic murmur. Echocardiography revealed left atrial mass, which was surgically removed and histopathological examination revealed that this mass was an atrial myxoma. After the mass removal, sinus rhythm was maintained.^[6]

The second case was in Argentina in 1997. She was a female patient with a family history of ADPKD. Her atrial myxoma was successfully surgically removed. It is worth to mention that a novel gene mutation was discovered in the family of this patient. It was characterized by a thymidine insertion at position 2436 of the PKD2 gene, with translation frameshift and creation of an immediate stop codon.^[5],[8] The presence of hepatic cysts in addition to PKD and atrial myxomas has never been described before. The case in our hands is the first reported one to describe all three conditions together.

Myxomas are the most common cardiac tumors. They are most commonly found in the left atrium. Myxomas may cause symptoms of heart failure and systemic embolization. Surgical resection is usually curative with minimal early and late morbidity and mortality. Recurrence may occur in 3% of the patients. Extensive resection decreases the possibility of recurrence.^[9] The clinical presentation of the patient with supraventricular tachycardia could be related to atrial myxoma excision. Arrhythmias postexcision has been reported in several cases, and the cause for this was unknown. It was hypothesized to be related to possible injury of the sinus node or atrioventricular node.^[10]

Despite the presence of various theories that tries to explain the etiology of atrial myxoma, the exact pathogenesis is not fully understood. Previously, atrial myxomas were thought to be originated from mural thrombi.^[11] Nevertheless, the discrepancy between myxomas and thrombi is significant. Even though mural thrombi usually develop in patients with the underlying cardiac condition and in different loci in the heart, myxomas occur in only one location alongside the fossa ovalis. Furthermore, pathologically, myxomas do not show any characteristics of mural thrombi like stratification or formation of fibrous tissue. Furthermore, the neoplastic behavior of cardiac myxomas has coerced a consensus that they are not of thrombotic origin.^[12],[13] The stimulation of this neoplastic changes is also not clear. Although myxoma are sometimes included in syndromes of genetic origin like Carney syndrome, this does not explain the sporadic appearance of myxoma in individual cases.^[14] Disregarding the exact actual cause of myxomas, the research is done so far propose that these neoplastic changes originate from multipotential mesenchymal changes.^[15]

The main characteristics of PKD are the formation of cysts in the kidneys bilaterally in addition to the affection of other organs. It is AD disease with focal nature as less than 1% of nephrons are affected. It is nowadays thought that the renal cells do not change into cysts in patients who carry the genes for PKD as the gene expression is prohibited by the inactive allele from the unaffected parent When this prohibition disappears due to soma tic activation, renal cells start to endlessly expand and divide forming cysts. The genes responsible for PKD encode specific proteins polycystien 1 and 2 that both cause morpho logical changes in renal epithelial cell.^[16],[17] These gene defects lead to connective tissue abnormalities and formation of extracellular matrix and production of certain factors that stimulate cysts formation.^[18] The development of other connective tissue disorder and relent less cell division could explain the association of other cardiac abnormalities with PKD.

Cardiovascular abnormalities are commonly found in patients with ADPKD. ADPKD is commonly associated with hypertension, LVH aneurysms and cardiac valvular defects. Defect« of the aortic and mitral valves are the predominant valvular abnormalities. Mitral valve prolapse seems to be a characteristic finding ir patients with PKD1 mutations. Echocardiography is indicated for patients with PKD only if a murmur is heard on examination.^[4] The negative family history for our patient coulc raise concerns about the occurrence of new mutation. As there was no genetic testing done in our case, the coexistence of atrial myxoma and PKD in our patient could still be a mere coincidence.

In conclusion, cardiac abnormalities are seriou complications that could be associated with PKD and are a major cause of death in this population. Atrial myxomas are rare association with this condition. Further studies tc identify other gene loci in PKD may provide explanation for the associated cardiac abnor malities.

Conflict of interest: None declared.

References

1.	Ecder T. Polycystic kidney disease. In: Shrier RW, editor. Diseases of the Kidney and Urinary Tract. 8th ed. Philadelphia: Lippincott Williams & Wilkins; 2007. p. 502-39
2.	PKD Foundation. Polycystic Kidney Disease: The Most Common Life-Threatening Genetic Disease. Kansas City: Polycystic Kidney Research Foundation; 2000.
3.	Fick GM, Johnson AM, Hammond WS, Gabow PA. Causes of death in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 1995;5:2048-56.
4.	Ecder T, Schrier RW. Cardiovascular abnormalities in autosomal-dominant polycystic kidney disease. Nat Rev Nephrol 2009;5:221-8. [PUBMED]
5.	Iglesias D, Fraga AR, Arrizurieta E, et al. Atrial myxoma in a woman with autosomal dominant polycystic kidney disease type 2. Am J Kidney Dis 1997;29:164-5.
6.	Earle K, Hoffbrand BI. Adult dominant polycystic kidney disease and atrial myxoma. Nephron. 1989;52(2):197.
7.	Colucci WS, Braunwald E. Primary tumours of the heart. In: Braunwald E, editor. Heart Disease: A Textbook of Cardiovascular Medicine. Ch. 44. New York: Saunders; I992. p. 1451.
8.	Iglesias DM, Telleria D, Viribay M, et al. A novel frameshift mutation (2436insT) produces an immediate stop codon in the autosomal dominant polycystic kidney disease 2 (PKD2) gene. Nephrol Dial Transplant 2000;15:477-80. [PUBMED]
9.	Lone RA, Ahanger AG, Singh S, et al. Atrial myxoma: Trends in management. Int J Health Sci (Qassim) 2008;2:141-51.
10.	Bateman TM, Gray RJ, Raymond MJ, et al. Arrhythmias and conduction disturbances following cardiac operation for the removal of left atrial myxomas. J Thorac Cardiovasc Surg 1983;86:601-7. [PUBMED]
11.	Ryou KS, Lee SH, Park SH, et al. Multiple fusiform myxomatous cerebral aneurysms in a patient with carney complex. J Neurosurg 2008;109:318-20. [PUBMED]
12.	Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the carney complex: Diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 2001;86:4041-6. [PUBMED]
13.	Leone S, Dell'aquila G, Giglio S, et al. Infected atrial myxoma: Case report and literature review. Infez Med 2007;15:256-61.
14.	Li Y, Pan Z, Ji Y, et al. Herpes simplex virus type 1 infection associated with atrial myxoma. Am J Pathol 2003;163:2407-12. [PUBMED]
15.	Grebenc ML, Rosado de Christenson ML, Burke AP, Green CE, Galvin JR. Primary cardiac and pericardial neoplasms: Radiologicpathologic correlation. Radiographics 2000;20: 1073-103.
16.	Pirson Y. Extrarenal manifestations of autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis 2010;17:173-80. [PUBMED]
17.	Tufan F, Uslu B, Cekrezi B, et al. Assessment of adrenal functions in patients with autosomal dominant polycystic kidney disease. Exp Clin Endocrinol Diabetes 2010;118:741-6. [PUBMED]
18.	Reeders ST, Zerres K, Gal A, et al. Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe. Lancet 1986;2:6-8. [PUBMED]