Unroofed coronary sinus in a patient with neurofibromatosis type 1

OBJECTIVE: To report the uncommon association between neurofibromatosis type 1 (NF1) and unroofed coronary sinus. CASE DESCRIPTION: Girl with four years and six months old who was hospitalized for heart surgery. The cardiac problem was discovered at four months of life. On physical examination, the patient presented several café-au-lait spots in the trunk and the limbs and freckling of the axillary and groin regions. Her father had similar skin findings, suggesting the NF1 diagnosis. The cardiac evaluation by echocardiography disclosed an atrial septal defect of unroofed coronary sinus type. This cardiac finding was confirmed at surgery. The procedure consisted of the atrial septal defect repair with autologous pericardium. COMMENTS: NF1 is a common autosomal dominant disorder caused by mutations in the NF1 gene. Among the NF1 findings, congenital heart defects are considered unusual. In the literature review, there was no association between NF1 and unroofed coronary sinus, which is a rare cardiac malformation, characterized by a communication between the coronary sinus and the left atrium, resultant from the partial or total absence of the coronary sinus roof. It represents less than 1% of atrial septal defect cases. More reports are important to determine if this association is real or merely casual, since NF1 is a common condition.

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Successful catheter ablation of atrioventricular reentrant tachycardia with left lateral bypass tract in a patient with unroofed coronary sinus atrial septal defect

Pediatrics & Neonatology ◽

10.1016/j.pedneo.2017.12.003 ◽

2018 ◽

Vol 59 (5) ◽

pp. 531-533

Author(s):

Ji-Eun Ban ◽

Woo-Hyeuk Choi ◽

So-Young Bak

Keyword(s):

Catheter Ablation ◽

Atrial Septal Defect ◽

Coronary Sinus ◽

Septal Defect ◽

Reentrant Tachycardia ◽

Atrioventricular Reentrant Tachycardia ◽

Unroofed Coronary Sinus ◽

Bypass Tract

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Ostium primum atrial septal defect with persistent left superior vena cava opening into unroofed coronary sinus-A rare entity

Echocardiography ◽

10.1111/echo.14408 ◽

2019 ◽

Vol 36 (7) ◽

pp. 1421-1422

Author(s):

Ashok Garg ◽

Deepak Agrawal ◽

Deepika Mishra ◽

Gyarsi Lal Sharma

Keyword(s):

Atrial Septal Defect ◽

Superior Vena Cava ◽

Coronary Sinus ◽

Septal Defect ◽

Superior Vena ◽

Vena Cava ◽

Rare Entity ◽

Left Superior Vena Cava ◽

Persistent Left Superior Vena ◽

Unroofed Coronary Sinus

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Desquamative interstitial pneumonia in a non-smoker with neurofibromatosis type 1 (Von Recklinghausen syndrome)

BMJ Case Reports ◽

10.1136/bcr-2018-227379 ◽

2020 ◽

Vol 13 (1) ◽

pp. e227379

Author(s):

Gustavo Ferrer ◽

Alwiya Omar Saleh ◽

Henry D Tazelaar ◽

Andrea V Arrossi

Keyword(s):

Interstitial Pneumonia ◽

Neurofibromatosis Type 1 ◽

Autosomal Dominant ◽

Interstitial Fibrosis ◽

Neurofibromatosis Type ◽

Pulmonary Involvement ◽

Autosomal Dominant Disorder ◽

Systemic Manifestations ◽

Von Recklinghausen

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with multiple systemic manifestations. Pulmonary involvement has been reported in the form of interstitial fibrosis, emphysema, pulmonary hypertension and thoracic neoplasm. We report a case of desquamative interstitial pneumonia in a non-smoker with NF1.

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Endocrine Dysfunction in Neurofibromatosis Type 1 – An Update

Acta Medica Marisiensis ◽

10.1515/amma-2016-0003 ◽

2016 ◽

Vol 62 (1) ◽

pp. 155-158

Author(s):

Raluca-Monica Pop ◽

Radu Mircea Neagoe ◽

Melinda Kolcsar ◽

Ionela Paşcanu

Keyword(s):

Neurofibromatosis Type 1 ◽

Genetic Disorder ◽

Parathyroid Tissue ◽

Neurofibromatosis Type ◽

Needle Aspiration ◽

Autosomal Dominant Disorder ◽

Thyroid Lesion ◽

Neurogenic Tumors ◽

Multiple Neoplasms

AbstractBackground: Neurofibromatosis type 1 is an autosomal dominant disorder associated with multiple neoplasms particularly those of ectodermal origin. Various endocrine pathologies are often present, among them, hyperparathyroidism and follicular thyroid lesion are very rare described and their coincidence in the same patient has not been described in the literature reviewed.Subject: A 59-years-old woman with clinical manifestation of neurofibromatosis type 1 developed dysphagia, dysphonia, choking sensation. Physical and imagistic examination revealed a multinodular goiter with microfollicular lesion on fine needle aspiration biopsy (FNAB), elevated parathormone levels and severe osteoporosis. The surgically removed thyroid contained a nodule with follicular architecture of uncertain malignant potential; the parathyroid tissue appeared normal.Discussion and conclusion: This case serves as a reminder to look for non-neurogenic tumors in patients with neurofibromatosis. Clinicians must be aware of the diverse clinical features of this genetic disorder.

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A rare case of unroofed coronary sinus with a secundum atrial septal defect incidentally detected by computed tomography

Journal of Cardiovascular Computed Tomography ◽

10.1016/j.jcct.2019.03.001 ◽

2020 ◽

Vol 14 (6) ◽

pp. e105-e106

Author(s):

Satoshi Shoji ◽

Hideaki Kanazawa ◽

Yoshitake Yamada ◽

Masahiro Jinzaki ◽

Keiichi Fukuda

Keyword(s):

Computed Tomography ◽

Atrial Septal Defect ◽

Coronary Sinus ◽

Rare Case ◽

Septal Defect ◽

Secundum Atrial Septal Defect ◽

Unroofed Coronary Sinus

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Surgical repair of unroofed coronary sinus atrial septal defect in an adult

Asian Cardiovascular and Thoracic Annals ◽

10.1177/0218492313504579 ◽

2013 ◽

Vol 22 (9) ◽

pp. 1123-1123

Author(s):

Yukiharu Sugimura ◽

Takashi Murakami ◽

Masaaki Toyama

Keyword(s):

Atrial Septal Defect ◽

Coronary Sinus ◽

Septal Defect ◽

Surgical Repair ◽

Unroofed Coronary Sinus

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Neurofibromatosis type 1 and melanoma of the iris arising from a dysplastic nevus: A rare yet casual association?

European Journal of Ophthalmology ◽

10.1177/1120672120906999 ◽

2020 ◽

pp. 112067212090699

Author(s):

Giovanni Alessio ◽

Silvana Guerriero ◽

Valeria Albano ◽

Domenico Piscitelli ◽

Veronica Falcone ◽

...

Keyword(s):

Uveal Melanoma ◽

Neurofibromatosis Type 1 ◽

Malignant Lesion ◽

Anterior Segment ◽

Neurofibromatosis Type ◽

Causative Mutation ◽

Autosomal Dominant Disorder ◽

Dysplastic Nevus ◽

Iris Melanoma

Purpose: We investigated the molecular causes of an unusual pigmented and ulcerated iris lesion detected in a patient diagnosed with neurofibromatosis type 1 (NF1). Case Report: A 52-year-old man was referred to our clinic with a non-traumatic ulcer in his left eye. Hyphema reabsorption disclosed a pigmented iris mass, thus ultrasound biomicroscopy and anterior segment fluorescein angiography were performed to investigate for the presence of a malignant lesion. Upon angiography, the lesion appeared highly vascularized but prevented posterior iris examination. Therefore, a gonioscopy was executed revealing extension of the lesion into the peripheral iris. Histopathology of the excisional iris biopsy revealed iris melanoma over a dysplastic nevus. NF1 is an autosomal dominant disorder characterized by pigmented cutaneous lesions, multiple skin tumors, and spinal and cranial nerve tumors. Uveal melanoma is the most common primary intraocular malignancy in adults. Up to 92% of cutaneous melanomas occur in patients with dysplastic nevus syndrome. Skin melanomas have been found in 0.1%–5.4% of NF1 patients. In literature, only 18 reports of uveal melanoma have been documented in association with NF1, including three cases of iris melanoma. Results: NF1 gene testing identified a causative mutation in the germline but no loss of the wild-type allele in the iris melanoma. Conclusions: Occurrence of both diseases in one patient is extremely rare, but the common origin of Schwann cells and melanoblasts suggests a non-casual association. Therefore, we propose that NF1 patients should be screened for nevi, both cutaneous and uveal, for better patients’ management.

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Giant Extracranial Aneurysm of the Internal Carotid Artery in Neurofibromatosis Type 1

Interventional Neuroradiology ◽

10.1177/159101991201800315 ◽

2012 ◽

Vol 18 (3) ◽

pp. 341-347 ◽

Cited By ~ 8

Author(s):

C. Moratti ◽

T. Andersson

Keyword(s):

Carotid Artery ◽

Internal Carotid Artery ◽

Neurofibromatosis Type 1 ◽

Internal Carotid ◽

Artery Aneurysm ◽

Neurofibromatosis Type ◽

Parent Artery ◽

Autosomal Dominant Disorder ◽

Internal Carotid Artery Aneurysm

Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by cutaneous pigmentations, neurofibromas, Lisch nodules and neuroectodermal tumors. Supra-aortic vessel aneurysms may affect patients with NF-1 and can be associated with rupture, ischemic complications and compression symptoms. We describe a 48-year-old woman with NF-1 and an extracranial 3×5 cm right internal carotid artery aneurysm. After balloon test occlusion the patient was treated with parent artery sacrifice which led to significant shrinkage on follow-up MR and reduction of compression symptoms. The literature concerning internal carotid artery aneurysms associated with NF-1 is reviewed evaluating the possible therapeutic options.

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