Hirayama Disease in a Patient with a History of Late-Onset Symptomatic Vein of Galen Aneurysmal Malformation

2021 ◽  
pp. 1-8
Author(s):  
Mohammed Ashour ◽  
Olivier Fortin ◽  
Line Parent ◽  
Guillaume Sébire ◽  
Christine Saint-Martin ◽  
...  
Keyword(s):  
Heart Failure ◽  
Spinal Cord ◽  
Genetic Predisposition ◽  
Late Onset ◽  
Vascular Malformations ◽  
Functional Improvement ◽  
Vein Of Galen ◽  
Hirayama Disease ◽  
Left Hand ◽  
History Of

<b><i>Introduction:</i></b> The purpose of this report is to present a rare case of Hirayama disease (HD) in a patient with a history of late-onset symptomatic vein of Galen aneurysmal malformation (VGAM). This report may provide new insights into the pathophysiology of HD, a rare disorder consisting of insidious onset of unilateral weakness and atrophy of the forearm and intrinsic hand muscles. These symptoms are believed to result from cervical myelopathy affecting the anterior horn cells due to abnormal compressive forces on the spinal cord from adjacent anatomical structures (i.e., dura and/or epidural veins), but this has not been proven. VGAM is a rare congenital cerebral vascular malformation, consisting of high-flow arteriovenous shunting between a persistent median prosencephalic vein and arterial feeders, which most frequently presents in the early neonatal period with congestive heart failure. <b><i>Case Presentation:</i></b> We report the case of an otherwise healthy boy who presented with heart failure due to VGAM at 7 years and subsequently presented at 14 years with left-sided HD. His cervical MRI with neck flexion revealed enlarged epidural veins at the C5–C6 spinal level with anterior, leftward displacement of the posterior dura and spinal cord as well as left hemicord flattening and/or atrophy at this level. He underwent successful surgical treatment by C5–C6–C7 osteoplastic laminotomies and tenting and expansile autologous duraplasty, during which enlarged, engorged epidural veins were confirmed and coagulated. This halted the progression of his left hand weakness and atrophy and allowed significant functional improvement. Postoperative catheter angiogram showed no anatomical connection between the persistent VGAM and the engorged epidural veins, and genetic testing revealed no genetic predisposition of vascular malformations. <b><i>Discussion/Conclusion:</i></b> In this patient, a combined surgical technique was performed that included epidural venous plexus coagulation with posterior autologous duraplasty and dural fixation using tenting sutures. This combined approach led to a favorable clinical and radiographic outcome with no complications or limitations and has not been previously proposed in the literature, to our knowledge. Although not completely ruled out, we found no angiographic connection or genetic predisposition to suggest there is a pathophysiological link between HD and VGAM.

scholarly journals Common genetic predisposition for heart failure and cancer

Herz ◽  
2020 ◽  
Vol 45 (7) ◽  
pp. 632-636
Author(s):  
Tobias J. Pfeffer ◽  
Stefan Pietzsch ◽  
Denise Hilfiker-Kleiner
Keyword(s):  
Risk Factors ◽  
Heart Failure ◽  
Cardiovascular Diseases ◽  
Genetic Predisposition ◽  
Genetic Variants ◽  
Late Onset ◽  
Current Knowledge ◽  
Disease Onset ◽  
Causes Of Mortality ◽  
Common Risk Factors

Abstract Cardiovascular diseases and cancer are major causes of mortality in industrialized societies. They share common risk factors (e.g., genetics, lifestyle, age, infection, toxins, and pollution) and might also mutually promote the onset of the respective other disease. Cancer can affect cardiac function directly while antitumor therapies may have acute- and/or late-onset cardiotoxic effects. Recent studies suggest that heart failure might promote tumorigenesis and tumor progression. In both cancer and cardiovascular diseases, genetic predisposition is implicated in the disease onset and development. In this regard, genetic variants classically associated with cardiomyopathies increase the risk for toxic side effects on the cardiovascular system. Genetic variants associated with increased cancer risk are frequent in patients with peripartum cardiomyopathy complicated by cancer, pointing to a common genetic predisposition for both diseases. Common risk factors, cardiotoxic antitumor treatment, genetic variants (associated with cardiomyopathies and/or cancer), and increased cardiac stress lead us to propose the “multi-hit hypothesis” linking cancer and cardiovascular diseases. In the present review, we summarize the current knowledge on potential connecting factors between cancer and cardiovascular diseases with a major focus on the role of genetic predisposition and its implication for individual therapeutic strategies and risk assessment in the novel field of oncocardiology.

4183New onset atrial fibrillation in acute coronary syndrome: early vs late onset

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
J Alves Guimaraes ◽  
F M Goncalves ◽  
S Borges ◽  
J J Monteiro ◽  
P S Mateus ◽  
...  
Keyword(s):  
Heart Failure ◽  
Atrial Fibrillation ◽  
Acute Coronary Syndrome ◽  
Primary Endpoint ◽  
Major Bleeding ◽  
Late Onset ◽  
Prognostic Impact ◽  
Coronary Syndrome ◽  
History Of ◽  
Onset Atrial Fibrillation

Abstract Background The prognostic impact of the timing where new-onset Atrial Fibrillation (AF) occurs in Acute Coronary Syndrome (ACS) patients isn't well studied. Objective Evaluate the predictors and prognostic impact of early-onset AF (EAF) and late-onset AF (LAF) in ACS patients. Methods We analysed 17016 patients with ACS enrolled in a national multicenter registry from October 2010 to January 2019. Patients with history of valvular disease, valve replacement, AF present at hospital admission or those who died in the first 48 hours were excluded. EAF was defined as AF in the first 48 hours of hospitalization and LAF after 48 hours. The primary endpoint was a composite of death and readmission from cardiovascular causes at 1 year. Results The mean age was 65±13 years; 74% were males and 42% had STEMI). 324 (1.9%) had EAF and 344 (2.0%) had LAF. The predictors of EAF were age ≥75 years (OR 2.04, 95% CI 1.53–2.70, p<0.001); history of heart failure (OR 1.82, 95% CI 1.09–3.02, p=0.022), STEMI diagnosis (OR 2.74, 95% CI 2.06–3.61, p<0.001), admission Killip class (KK)≥2 (OR 2.70, 95% CI 1.98–3.69, p<0.001). The predictors of LAF were age ≥75 years (OR 3.15, 95% CI 2.36–4.19, p<0.001), history of stable angina (OR 1.42, 95% CI 1.06–1.90, p=0.018), cerebrovascular disease (OR 1.68, 95% CI 1.14–2.46, p=0.008), COPD (OR 2.33, 95% CI 1.58–3.44, p<0.001), STEMI diagnosis (OR 2.31, 95% CI 1.77–3.03, p<0.001), admission KK ≥2 (OR 2.06, 95% CI 1.54–2.76, p<0.001) and stress hyperglycemia (OR 1.54, 95% CI 1.15–2.05, p=0.003) In STEMI patients only those with LAF had higher symptoms time (245 (IQR 165–400) minutes vs 284 (IQR 200–425) min; p=0.02). During hospitalization, LAF patients had a worse prognosis with a higher rate of heart failure, re-infarction, stroke, major bleeding and death (Table 1). In the follow-up, in multivarite analysis, only LAF was a predictor of the primary endpoint (EAF: HR 0.79, 95% CI 0.50–1.25, p=0.314; LAF: HR 1.45, 95% CI 1.05–2.00, p<0.025). Complications during hospitalization No AF EAF LAF p Death 1.3 6.5 12.5 <0.001 Heart Failure 11.4 38.3 50.3 <0.001 Re-enfarction 1.0 0.9 3.5 <0.001 Stroke 0.5 0.9 3.8 <0.001 Major bleeding 1.3 4.3 4.1 <0.001 Kaplan Meier curve Conclusion Patients with EAF and LAF have different characteristics and outcomes with LAF patients having a worse in-hospital and long term prognosis.

Therapeutic alternatives for vein of Galen vascular malformations

1993 ◽  
Vol 78 (3) ◽  
pp. 438-445 ◽  
Author(s):  
Pedro Lylyk ◽  
Fernando Viñuela ◽  
Jacques E. Dion ◽  
Gary Duckwiler ◽  
Guido Guglielmi ◽  
...  
Keyword(s):  
Heart Failure ◽  
Congestive Heart Failure ◽  
Vascular Malformations ◽  
Clinical Status ◽  
Severe Congestive Heart Failure ◽  
Type I ◽  
Vein Of Galen ◽  
Content Type ◽  
Type Iv ◽  
Fine Print

✓ From September, 1986, to March, 1990, the authors treated 28 children harboring a vein of Galen vascular malformation. Eleven (39.3%) of the patients were neonates, 13 (46.4%) were 1 to 2 years old, and four (14.3%) were more than 2 years old. Fifteen patients (53.6%) presented with severe congestive heart failure, six (21.4%) had seizures, four (14.3%) had hydrocephalus, and three (10.7%) presented with intraventricular hemorrhage. Based on the Yaşargil classification of malformations, 10 lesions (35.7%) were Type I, seven (25%) were Type II, eight (28.6%) were Type III, and three (10.7%) were Type IV. In 11 patients (39.3%), a combined transfemoral, transarterial, and transvenous embolization of the vein of Galen malformation was performed. A pure transtorcular approach was utilized in eight patients (28.6%), and postembolization surgical clipping of arterial feeders was performed in two cases with intractable congestive heart failure. Complete anatomical occlusion of the galenic malformation was achieved in 13 patients (46.4%). An immediate postembolization improvement in the patient's clinical status was obtained in 23 (82.1%) of 28 patients and a good long-term clinical outcome was seen in 17 patients (60.7%). Five deaths (17.9%) occurred in this series of 28 patients; three (10.7%) were related to a transtorcular embolization and two (7.1%) to the unchanged natural history of the disease.

Abstract 16553: Association Between Family History and Isolated Early-Onset Atrial Flutter Across Race-Ethnicity

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Victor Qiao ◽  
Ana Ongtengco ◽  
Aylin Ornelas ◽  
Yining Chen ◽  
Zain Alzahrani ◽  
...  
Keyword(s):  
Family History ◽  
Atrial Flutter ◽  
Ethnic Minorities ◽  
Asian American ◽  
Genetic Predisposition ◽  
Early Onset ◽  
Late Onset ◽  
Degree Relative ◽  
Racial And Ethnic Minorities ◽  
History Of

Introduction: There is a genetic predisposition to early-onset atrial fibrillation (EOAF) but the role of family history in the pathogenesis of isolated EO atrial flutter (AFL) across racial and ethnic minorities remains unclear. Here, we determined whether probands with isolated EOAFL across race and ethnicity have a higher rate of AF in first-degree family members than matched control patients with late-onset (LO) AFL. Methods: In this cohort study, patients prospectively enrolled in a clinical and genetic biorepository were administered baseline questionnaires that included questions about family history of AFL. EOAFL was defined as AFL occurring in probands aged 60 years or younger in the absence of structural heart disease. All other forms were categorized as LOAFL. The main outcome measure was the reported family history of AFL in first-degree relatives. Results: Of 106 patients enrolled, 23 (23%) were European American; 53 (52%) were African American, 22 (22%) were Hispanic/Latino (H/L) and 3 (3%) were Asian American. There was a family history of AFL in 11 probands with EOAFL (18%) compared with 3 (7%) patients with LOAFL (Table 1). There was a significantly greater prevalence of CHF in the EOAFL group (40%) than the LOAFL group (21%). Conclusion: Probands with isolated EOAFL are more likely to have a first-degree relative with AFL when compared to matched controls with isolated LOAFL. Our findings support genetic predisposition to isolated EOAFL across racial and ethnic minorities.

scholarly journals Hirayama disease – Early MRI diagnosis of subacute medullary ischemia: A case report

2020 ◽  
Vol 11 ◽  
pp. 115
Author(s):  
Karol Galletta ◽  
Michele Gaeta ◽  
Concetta Alafaci ◽  
Sergio Vinci ◽  
Marcello Longo ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Motor Impairment ◽  
Cord Compression ◽  
Clinical Findings ◽  
Cervical Cord ◽  
Spinal Cord Atrophy ◽  
Hirayama Disease ◽  
Left Hand ◽  
Nonsurgical Management ◽  
Mri Diagnosis

Background: Hirayama disease (HD) is a rare, benign, and self-limiting motor neuron disorder that results in selective motor impairment of the C7-T1 myotomes. It is characterized by progressive, unilateral, or bilateral asymmetric muscle atrophy of the distal upper extremities and myelopathy. Case Description: A 23-year-old male presented with bilateral atrophy of the thenar/hypothenar eminences/ interosseous muscles, plus left-hand weakness. The cervical MRI documented subacute ischemic damage of the distal cervical cord. To rule out a tumor and reduce questionable cord compression, the patient underwent a C5–C6 anterior cervical discectomy and fusion (ACDF) immediately followed by a laminectomy with durotomy and to obtain a spinal cord biopsy. When the histology confirmed focal cord ischemia consistent with HD, it was clear that both operations were unnecessary. Conclusion: Establishing the diagnosis of HD is based on clinical findings and MRI/flexion MR features which include the demonstration of an increased T2-weighted intramedullary cord signal, enlargement of the posterior epidural space, and segmental spinal cord atrophy. The presence of HD should be recognized as a “nonsurgical entity,” and conservative nonsurgical management should be employed.

scholarly journals P.205 Association Between Vein of Galen Aneurysmal Malformation and Hirayama Disease: A Clue into Pathophysiology?

2021 ◽  
Vol 48 (s3) ◽  
pp. S78-S79
Author(s):  
M Ashour ◽  
O Fortin ◽  
G Sébire ◽  
C Saint-Martin ◽  
C Poulin ◽  
...  
Keyword(s):  
Vascular Malformations ◽  
Vein Of Galen ◽  
Venous Plexus ◽  
Arteriovenous Shunting ◽  
Hirayama Disease ◽  
Arterial Circulation ◽  
Microvascular Changes ◽  
Insidious Onset ◽  
Favorable Clinical Outcome ◽  
Unilateral Weakness

Background: Hirayama Disease (HD) is a rare disorder consisting of insidious onset of unilateral weakness and atrophy of the forearm and intrinsic hand muscles. Vein of Galen aneurysmal malformations (VGAMs) are rare congenital cerebral vascular malformations, consisting of high-flow arteriovenous shunting between a persistent median prosencephalic vein and arterial feeders. Methods: 14 years old boy known for VGAM presented with left-sided HD. His cervical MRI revealed enlarged epidural with anterior, left-ward displacement of the posterior dura and spinal cord. He underwent surgical treatment by laminotomies, along with tenting of an autologous duroplasty to the overlying laminae. Results: We decided to combine epidural venous plexus coagulation with posterior duraplasty and dural fixation using tenting suture which led to a favorable clinical outcome has not been previously proposed in the literature. We hypothesize that in this context, an abnormal vasculature could also predispose to posterior epidural venous plexus engorgement, anterior dural displacement in cervical flexion, and microvascular changes in the anterior spinal arterial circulation, leading to the progressive anterior horn cell ischemia that lead to the clinical phenotype of HD. Conclusions: The association between HD and VGAM in this patient may provide clues with regard to the pathophysiology of HD.

scholarly journals Charcot arthropathy in the elbow caused by hydrosiringomyelia

2021 ◽  
Author(s):  
Carolina Maria Marin ◽  
Gustavo Carvalho Costa ◽  
Emilia Correa Souto ◽  
Icaro França Navarro Pinto ◽  
Igor Braga Farias ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Previous History ◽  
Rare Condition ◽  
Nerve Fibers ◽  
Upper Limbs ◽  
Charcot Arthropathy ◽  
Spinothalamic Tract ◽  
Neuropathic Arthropathy ◽  
Left Hand ◽  
History Of

Introduction: Syringomyelia is a chronic disease of the spinal cord that leads to damage to nerve fibers in the spinothalamic tract. The changes in these structures responsible for the thermal and painful sensitivity lead to an abnormal innervation of the joints, which can lead to neuropathic arthropathy, called Charcot arthropathy. Syringomyelia is the main cause of Charcot arthropathy in the upper limbs, and the most involving joints are the shoulder and elbow. It is a rare condition and its recognition allows for early diagnosis and proper management. Case report: A 50-year-old female patient, with a previous history of spinal cord trauma, who has been in a wheelchair since then, started with edema in the left upper limb, mainly in the elbow, evolved with local ulcer and presence of serosanguinolent secretion, weakness and paresthesia in the left hand. Magnetic resonance imaging of the elbow showed signs of neuroarthropathy and the study of the thoracic cervical spine showed enlargement of the cerebrospinal fluid space and tapering of the spinal cord. Conclusions: Charcot’s arthropathy should be considered as a differential diagnosis of pain, edema and limitation of joint movements. When present in the upper limbs, an investigation should be carried out to exclude syringomyelia.

Adenosine-induced cardiac standstill for endovascular treatment of pediatric vein of Galen malformations

2018 ◽  
Vol 21 (4) ◽  
pp. 380-383 ◽  
Author(s):  
Nam K. Yoon ◽  
Jonathan P. Scoville ◽  
Philipp Taussky
Keyword(s):  
Heart Failure ◽  
Surgical Treatment ◽  
Vascular Malformations ◽  
Pediatric Population ◽  
Transarterial Embolization ◽  
Endovascular Embolization ◽  
High Flow ◽  
High Morbidity ◽  
Vein Of Galen ◽  
Open Surgical Treatment

Vein of Galen malformations are congenital high-flow vascular malformations that often present with heart failure, hydrocephalus, developmental delay, and intracranial hemorrhage. Because open surgical treatment is associated with high morbidity and mortality, endovascular embolization is increasingly becoming the preferred method of intervention. However, embolization of these lesions can be difficult because of their high-flow nature. The use of adenosine-induced cardiac standstill for treatment of vein of Galen malformations has not been previously described in neonates. The authors describe 3 treatments in 2 patients that demonstrate that the use of adenosine is well tolerated and allows safe transarterial embolization of high-flow vein of Galen malformations in the pediatric population.

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