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Cyanotic congenital heart disease with moyamoya: A rare case report

 Department of Neurology and Pediatrics, Patna Medical College, Patna, Bihar, India

Date of Submission08-Jan-2022
Date of Decision22-Mar-2022
Date of Acceptance23-Mar-2022
Date of Web Publication30-Jan-2023

Correspondence Address:
Munish Kumar,
Department of Neurology, Patna Medical College, Patna, Bihar
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jpn.JPN_7_22



Moyamoya disease is an uncommon chronic, occlusive vascular disease, which causes obstruction and stenosis of arteries around the circle of Willis. Children and young adults are mainly affected. It may cause hemorrhagic or ischemic stroke, or transient ischemic attack. We report a rare case of association between congenital cyanotic heart disease and moyamoya syndrome.

Keywords: Cyanotic congenital heart disease, moyamoya, stroke

How to cite this URL:
Kumar M, Raj T, Suman S, Naushaba G. Cyanotic congenital heart disease with moyamoya: A rare case report. J Pediatr Neurosci [Epub ahead of print] [cited 2023 Dec 5]. Available from: https://www.pediatricneurosciences.com/preprintarticle.asp?id=368814

   Introduction Top

Moyamoya disease is a chronic, occlusive cerebrovascular disease involving bilateral stenosis or occlusion of the terminal portion of the internal carotid artery and/or the proximal portions of the anterior and middle cerebral artery.[1] Due to its slow progression and in response to progressive cerebral ischemia, a large network of collateral vessels is formed from the external carotid arteries and the vertebrobasilar system.[2] A Japanese word, MOYAMOYA means “something hazy like a puff of cigarette smoke drifting in the air,” which describes its peculiar angiographic picture consisting of abnormal net-like vessels at the base of the brain.[3] The primary or idiopathic form of Moyamoya disease, which is sometimes familial, should be distinguished from the secondary form, referred to as Moyamoya syndrome, which can be associated with certain systemic conditions such as sickle cell disease, neurofibromatosis, homocystinuria, Down, Turner, Alagille and Williams syndrome. The association between Moyamoya disease and congenital heart defects such as coarctation of the aorta has been infrequently reported.[4],[5],[6] Moyamoya disease typically presents acutely with transient ischemic attack, brain infarction, intracranial hemorrhage, and sometimes epileptic seizures. Clinically, children present mostly with ischemic stroke, and adults with either ischemic or hemorrhagic stroke.[7] Revascularization surgery for symptomatic Moyamoya disease is considered the standard treatment for preventing further stroke.[8] We report a rare or rather first case of 1-year-old male with congenital cyanotic heart disease with moyamoya.

   Case Report Top

A 1-year-old male child presented to our pediatric emergency department, Patna Medical College, Patna, India, with complaints of excessive crying with acute onset inability to move both right upper and lower limb followed by weakness in left upper limb since 20 days with two episodes of sudden onset up rolling of eyeballs and tightening of all four limbs, suggestive of seizure episode. Birth and developmental history were normal. There was no history of fever, head injury or ear discharge. There were no neurocutaneous markers or asymmetry of face. The patient had a history of bluish discoloration with excessive crying since birth which parents noticed but thought to be normal and never consulted a doctor. On examination, the patient was conscious, with cyanosis present. Neurologically tone was decreased, power 1/5 over the right upper and lower limb and 2/5 in the left upper limb, deep tendon reflexes were exaggerated, and planter bilaterally extensor. No meningeal signs and no cranial nerve involvement. Cardiovascular examination showed wide and fixed splitting of S2 with an ejection systolic murmur which was best appreciated at lower left sternal border. Hematological and CSF examinations were normal. MRI brain showed acute infarct in the right frontal lobe [Figure 1] along with diffuse left cerebral cortical atrophy and left Parieto-occipital gliosis [Figure 2]. MR angiography of the brain revealed attenuated intracranial internal carotid artery on either side with attenuation of bilateral middle cerebral arteries (left > right) and extensive lenticulostriate collaterals seen with puff of smoke appearance suggestive of moyamoya disease [Figure 3]. Echocardiography showed congenital cyanotic heart disease, sinus venosus arterial septal defect (ASD), right to left flow, total anomalous pulmonary venous drainage (TAPVD) with severe pulmonary arterial hypertension, large right atrium/right ventricle, dilated pulmonary artery. In summary, 1-year-old child having congenital cyanotic heart disease and moyamoya presented with ischemic stroke and seizures.
Figure 1: DWI and ADC images showing acute infarct in right frontal lobe

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Figure 2: T2W and FLAIR images showing left cerebral hemisphere atrophy with gliosis in left arieto-occipital region

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Figure 3: MR angiography of brain revealed attenuated intracranial internal carotid artery on either side with attenuation of bilateral middle cerebral arteries (left > right) and extensive lenticulostriate collaterals seen with puff of smoke appearance

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   Discussion Top

Moyamoya disease, first reported in Japan in 1957 by Takeuchi and Shimizu, is a rare, chronic, idiopathic, and progressive vaso-occlusive disease of cerebral blood vessels.[9] It is characterized by bilateral stenosis or the occlusion of the intracranial segment of the internal carotid artery (ICA), the proximal parts of anterior and middle cerebral arteries, or both. Subsequently, various collaterals develop in the ischemic brain in response to hypoxia.[10] The name moyamoya (literally meaning “a puff of smoke”) was coined based on the angiographic findings of Suzuki and Takaku.[1] The disease’s incidence worldwide is 0.07%.[11] Pathologically, as seen in autopsy cases, there is extensive intimal thickening and increased infolding of the internal elastic lamina. Lipid deposition may have also occurred in the intima. However, an important feature is the lack of inflammatory signs and atheromatous plaque.[12] Yamashita et al.[13] found that vessels showed microaneurysm formation, focal fibrin deposits, and marked attenuation of the wall with the diminution of the elastic lamina. Moyamoya is primary if it is isolated (Moyamoya disease), or as secondary (Moyamoya syndrome) if the anomaly is associated with an acquired condition or congenital disorder. Its association with congenital heart disease (CHD) was reported for the first time in 1998;[5] however, it is still an under-recognized cause of stroke and seizure in CHDs.

We report a rare association between cyanotic congenital heart disease and moyamoya. Our patient is 1 year old, which is unique, as few cases reported in the literature have been in this age group. In a study by Tatlı et al.,[14] in eight patients, the age at diagnosis varied between 19 months and 11 years (73.4 ± 41.8 months, mean ± SD). Shoukat et al.[15] studied the data of 13 moyamoya patients, among which only one was of 6 months old. Our patient had a history of cyanosis, presented with recurrent ischemic strokes and seizures. The diagnosis of sinus venosus arterial septal defect (ASD), total anomalous pulmonary venous drainage (TAPVD) with severe pulmonary arterial hypertension, and moyamoya syndrome was made based on echocardiography and MR angiogram brain findings. We did a generous search of literature but could not find a similar association. Five patients with moyamoya syndrome and structural congenital heart disease were identified. Coarctation of the aorta was present in three patients, Tetralogy of Fallot and a large paramembranous ventricular septal defect were found in the other two patients.[5] Strokes were the most common presenting sign (3 patients) followed by seizures (2 patients).[5] Suzuki and Kodama[3] studied 100 patients of moyamoya, and found that ischemic stroke is more common in children and hemorrhagic stroke in adults. Seizures were present in 17% of patients and more common in the pediatric age group. In another study 84.6% presented with stroke, had a motor deficit making it the most common cortical symptom. Six (46.1%) cases presented with seizures, with one having a generalized tonic-clonic.[15] Tatlı et al.[14] studied eight patients, all of which had bilateral stenosis or occlusion of the distal internal carotid arteries associated with an abnormal network of fine collateral vessels at the base of the brain. Of the 13 patients reported, 11(84.6%) had bilateral involvement of the vessels showing stenosis to complete occlusion on angiogram.[15] The current treatment options for moyamoya disease are divided into conservative or surgical interventions. Conservative treatment includes medical management with anti-platelets, and symptomatic management such as anti-epileptics, as well as headache prophylaxis. Surgical treatments are divided into direct revascularization and indirect revascularizations.[16] Direct revascularization involves a superficial temporal artery (STA) to middle cerebral artery (MCA) bypass. A Korean research team estimates that 50% to 70% of children with moyamoya disease who are treated conservatively go on to develop progressive neurological impairment and a poor clinical outcome,[17] whereas the rate of stroke in surgically treated children is 2.6% per year.[18] Various surgical treatments are summarized in [Table 1].
Table 1: Various surgical treatments

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   Conclusion Top

Moyamoya syndrome should be considered in the differential diagnosis of seizures and stroke in pediatric patients with structural congenital heart disease. Prompt diagnosis and surgical management can lead to an improved neurological outcome in these patients. Congenital cyanotic heart disease and Moyamoya have not been described previously to the best of our knowledge, hence reported.


We are thankful to the Department of Radiology and Cardiology, Patna Medical College Patna, India, for their support.

Financial support and sponsorship

Not applicable.

Conflicts of interest

There are no conflicts of interest.

   References Top

Suzuki J, Takaku A. Cerebrovascular “moyamoya” disease: disease showing abnormal net-like vessels in base of brain. Arch Neurol 1969; 20:288-99.  Back to cited text no. 1
Fukuyama Y, Umezu R. Clinical and cerebral angiographic evolutions of idiopathic progressive occlusive disease of the circle of Willis (“moyamoya” disease) in children. Brain Dev 1985;7:21-37.  Back to cited text no. 2
Suzuki J, Kodama N. Moyamoya disease: a review. Stroke 1983;14:104-9.  Back to cited text no. 3
Christiaens FJ, Van den Broeck LK, Christophe C, Dan B. Moyamoya disease (moyamoya syndrome) and coarctation of the aorta. Neuropediatrics 2000;31:47-8.  Back to cited text no. 4
Lutterman J, Scott M, Nass R, Geva T. Moyamoya syndrome associated with congenital heart disease. Pediatrics 1998;101:57-60.  Back to cited text no. 5
Schuster JM, Roberts TS. Symptomatic moyamoya disease and aortic coarctation in a patient with Noonan’s syndrome: strategies for management. Pediatr Neurosurg 1999;30:206-10.  Back to cited text no. 6
Mesiwala AH, Sviri G, Fatemi N, Britz GW, Newell DW. Long-term outcome of superficial temporal artery-middle cerebral artery bypass for patients with moyamoya disease in the US. Neurosurg Focus 2008;24:E15.  Back to cited text no. 7
Narisawa A, Fujimura M, Tominaga T. Efficacy of the revascularization surgery for adult-onset moyamoya disease with the progression of cerebrovascular lesions. Clin Neurol Neurosurg 2009;111:123-6.  Back to cited text no. 8
Fukui M. Current state of study on moyamoya disease in Japan. Surg Neurol 1997;47:138-43.  Back to cited text no. 9
Handa J, Handa H. Progressive cerebral arterial occlusive disease: analysis of 27 cases. Neuroradiology 1972;3:119-33.  Back to cited text no. 10
Goto Y, Yonekawa Y. Worldwide distribution of moyamoya disease. Neurol Med Chir (Tokyo) 1992;32:883-6.  Back to cited text no. 11
Maki Y, Enomoto T. Moyamoya disease. Childs Nerv Syst 1988;4:204-12.  Back to cited text no. 12
Yamashita M, Oka K, Tanaka K. Histopathology of the brain vascular network in moyamoya disease. Stroke 1983;14:50-8.  Back to cited text no. 13
Tatlı B, Ekici B, Sencer A, Sencer S, Aydın K, Aydınlı N, et al. Clinical features, prothrombotic risk factors, and long-term follow-up of eight pediatric moyamoya patients. J Clin Neurol 2012;8:100-3.  Back to cited text no. 14
Shoukat S, Itrat A, Taqui AM, Zaidi M, Kamal AK. Moyamoya disease: a clinical spectrum, literature review and case series from a tertiary care hospital in Pakistan. BMC Neurol 2009;9:15.  Back to cited text no. 15
Li Q, Gao Y, Xin W, Zhou Z, Rong H, Qin Y, et al. Meta-analysis of prognosis of different treatments for symptomatic moyamoya disease. World Neurosurg 2019;127:354-61.  Back to cited text no. 16
Choi JU, Kim DS, Kim EY, Lee KC. Natural history of moyamoya disease: comparison of activity of daily living in surgery and non surgery groups. Clin Neurol Neurosurg 1997;99:S11-8.  Back to cited text no. 17
Fung LW, Thompson D, Ganesan V. Revascularisation surgery for paediatric moyamoya: a review of the literature. Childs Nerv Syst 2005;21:358-64.  Back to cited text no. 18


  [Figure 1], [Figure 2], [Figure 3]

  [Table 1]


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