Neurofibromatosis and Congenital Heart Disease

Neiman, Harvey L.; Mena, Ernesto; Holt, John F.; Stern, Aaron; Perry, Burton L.

doi:10.2214/ajr.122.1.146

Cited by 28 publications

(9 citation statements)

References 3 publications

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“…'9 Pulmonary stenosis is documented in 52% of patients with Watson syndrome, while cardiac anomalies do not occur with increased frequency among patients with NFl. 16 18 20 There have been two reports of valvular pulmonary stenosis in NFl: five patients described by Kaufman et al21 and three family members reported by Neiman et al 22 The latter family has a phenotype suggestive of Watson syndrome. All three family members have mental retardation.…”

Section: Discussionmentioning

confidence: 99%

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

Allanson

Upadhyaya

Watson

et al. 1991

Journal of Medical Genetics

103

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Section: Discussionmentioning

confidence: 99%

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

Allanson

Upadhyaya

Watson

et al. 1991

Journal of Medical Genetics

103

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“…The incidence and type of congenital heart defects in individuals with NF1 were long undefined and not wellcharacterized. The previously reported frequencies of congenital heart defects ranged from 0.4 to 8.6% in 8 large series of NF1 patients [183][184][185][186][187][188][189][190]. However, the diagnosis of both NF1 and congenital heart disease was not clearly established in these patients and not distinguished from Watson and NF1-Noonan syndromes.…”

Section: Emerging Evidencementioning

confidence: 93%

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

Bergqvist

Servy

Valeyrie‐Allanore

et al. 2020

Orphanet J Rare Dis

120

113

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Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging between 1/3000 and 1/ 6000 people worldwide. The disease affects multiple systems with cutaneous, neurologic, and orthopedic as major manifestations which lead to significant morbidity or mortality. Indeed, NF1 patients are at an increased risk of malignancy and have a life expectancy about 10-15 years shorter than the general population. The mainstay of management of NF1 is a patient-centered longitudinal care with age-specific monitoring of clinical manifestations, aiming at the early recognition and symptomatic treatment of complications as they occur. Protocole national de diagnostic et de soins (PNDS) are mandatory French clinical practice guidelines for rare diseases required by the French national plan for rare diseases. Their purpose is to provide health care professionals with guidance regarding the optimal diagnostic and therapeutic management of patients affected with a rare disease; and thus, harmonizing their management nationwide. PNDS are usually developed through a critical literature review and a multidisciplinary expert consensus. The purpose of this article is to present the French guidelines on NF1, making them even more available to the international medical community. We further dwelled on the emerging new evidence that might have therapeutic potential or a strong impact on NF1 management in the coming feature. Given the complexity of the disease, the management of children and adults with NF1 entails the full complement healthcare providers and communication among the various specialties.

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“…There has been no reported evolution of third degree atrioventricular block in an adult patient with a NF1 and to our knowledge; our vignette is the first in the literature. However, a solitary case of NF1 in a 5-year-old child who developed sinus bradycardia with second-degree atrioventricular block that advanced at teenage years to a complete heart block had been documented [ 11 ]. Neurofibromas may be evident all over the body including the heart, thus, may contribute to the evolution of arrhythmias in NF1 patients.…”

Section: Discussionmentioning

confidence: 99%

High Grade Atrioventricular Block in Von Recklinghausen Disease: A Rare Phenomenon

Lasam

2018

Cardiol Res

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A case of a 73-year-old woman with a history of von Recklinghausen disease (neurofibromatosis type 1) who presented initially with a gradual onset of shortness of breath and lightheadedness with no associated fever, chills, angina, palpitations, cough, weight loss, night sweats, nausea, vomiting, or constipation. She was found to be severely bradycardic and in third degree atrioventricular block by her primary care physician. She was admitted in the hospital because of intermittent bouts of lightheadedness and progression of the shortness of breath. Twelve-lead electrocardiogram documented the high grade atrioventricular block. Chest radiograph showed subtle mild pulmonary congestion. Transthoracic echocardiogram revealed mild concentric hypertrophy and normal systolic function with no regional wall motion abnormalities or evidence of significant valvular disease. Pacemaker was inserted and her symptoms improved significantly.

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Neurofibromatosis and Congenital Heart Disease

Cited by 28 publications

References 3 publications

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

High Grade Atrioventricular Block in Von Recklinghausen Disease: A Rare Phenomenon

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