The heart in neurofibromatosis type 1: An echocardiographic study

Tedesco, Michele Adolfo; Salvo, Giovanni Di; Natale, Francesco; Pergola, Valeria; Calabrese, Elvira; Grassia, Carolina; Ratti, G; Iarussi, D; Iacono, A; Calabrò, Raffaele; Lama, Giuliana

doi:10.1067/mhj.2002.122121

Cited by 57 publications

(57 citation statements)

References 32 publications

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“…In this interesting disease, neurofibromas may present in the nervous system or in other organs along with clinical findings or in the absence of any significant clinical symptoms. Different studies have reported the involvement of different systems (peripheral nervous system, visual-brainstem-somatosensory pathways, heart, and abdomen) [5,7,23,24]. No study has discussed the underlying pathophysiology of the simultaneous involvement of different systems.…”

Section: Discussionmentioning

confidence: 94%

Electrophysiological findings in neurofibromatosis type 1

Yerdelen

Koç

Durdu

et al. 2011

Journal of the Neurological Sciences

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Section: Discussionmentioning

confidence: 94%

Electrophysiological findings in neurofibromatosis type 1

Yerdelen

Koç

Durdu

et al. 2011

Journal of the Neurological Sciences

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“…Recently, we suggested the presence of vascular abnormalities in NF1 patients, irrespective of casual BP and age [42,43]. The cardiovascular involvement in NF1 may be progressive and requires long-term follow-up.…”

Section: Discussionmentioning

confidence: 98%

Blood pressure and cardiovascular involvement in children with neurofibromatosis type1

Lama

Graziano

Calabrese

et al. 2004

Pediatric Nephrology

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We evaluated blood pressure in a sample of patients with neurofibromatosis type 1 (NF1), using ambulatory blood pressure monitoring (ABPM), to determine whether ABPM, when compared with casual BP recordings, allowed the detection of a higher risk for hypertension. We also evaluated the correlation between BP and vascular abnormalities. We studied 69 NF1 patients (36 males and 33 females) with a mean age of 11+/-4 years, divided into group A, with 24-h mean systolic blood pressure (SBP) or diastolic blood pressure (DBP) <95th percentile, and group B, with mean SBP or DBP >95th percentile. Standard electrocardiography and M-mode, two-dimensional echocardiography were performed and all patients were in sinus rhythm. ABPM identified 11 hypertensive patients (16%); 5 had a mean SBP >95th percentile, 3 mean SBP-DBP >95th percentile, and 3 a mean DBP >95th percentile. Laboratory and other investigations to exclude secondary hypertension were normal. Cardiac abnormalities were found in 13 of the 69 patients (18.8%) with NF1. There were no significant clinical and cardiac differences between the normotensive and hypertensive group. Our data emphasize the importance of periodic ABPM in NF1 patients to diagnose hypertension early and avoid target organ damage and increased mortality.

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“…Vascular manifestations of NF1 have been recognized for over 50 years and are characterized by stenosis, rupture, and aneurysm or fistula formation of large-and medium-sized arteries [Reubi, 1945;Hilal et al, 1971;Momose and New, 1976;Rosinbusch et al, 1977;Leone et al, 1982;Debure et al, 1984;Kamiyama et al, 1985;Sobata et al, 1988;Schievink and Piepgras, 1991;Siqueira Neto et al, 1998;Sampei et al, 1999;Lin et al, 2000;Mitsui et al, 2001;Friedman et al, 2002;Tedesco et al, 2002;Miyazaki et al, 2004]. The most common manifestation of NF1 vasculopathy is renal artery dysplasia and hypertension is the usual manifestation [Riccardi, 1992].…”

Section: Discussionmentioning

confidence: 97%

Frequency of incidental intracranial aneurysms in neurofibromatosis type 1

2005

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Neurofibromatosis type 1 (NF1) is often mentioned among the heritable connective tissue disorders associated with intracranial aneurysms, but the association has not been firmly established. We therefore reviewed a contemporary series of hospitalized patients with NF1, many of whom underwent brain magnetic resonance imaging (MRI). We identified patients with NF1 who were hospitalized at Cedars-Sinai Medical Center, Los Angeles, California, between January 1, 1997 and December 31, 2001 through the hospital's centralized medical records system using DRG codes. The mean age of the 39 patients was 30.4 years, and 22 patients had undergone MRI of the brain for the evaluation of symptoms due to the presence of central or peripheral nervous system tumors. Incidental intracranial aneurysms were detected in 2 (5%) of the 39 patients. Limiting the patient population to the 22 patients who had undergone MRI examination, the detection rate was 9%. This was significantly (P < 0.005) higher than the aneurysm detection rate in a control population (0/526 [0%]) of patients hospitalized for primary or secondary brain tumors, all of whom had undergone MRI examination. Our study suggests that patients with NF1 are at an increased risk of developing intracranial aneurysms.

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The heart in neurofibromatosis type 1: An echocardiographic study

Cited by 57 publications

References 32 publications

Electrophysiological findings in neurofibromatosis type 1

Electrophysiological findings in neurofibromatosis type 1

Blood pressure and cardiovascular involvement in children with neurofibromatosis type1

Frequency of incidental intracranial aneurysms in neurofibromatosis type 1

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