Familial Neurofibromatosis and Hypertrophic Cardiomyopathy

Overview

Journal Br Heart J

Specialty Cardiology & Vascular Diseases

Date 1988 Sep 1

PMID 3140859

Citations 5

Authors

A P Fitzpatrick

R W Emanuel

Affiliations

Soon will be listed here.

Abstract

Two siblings from a family in which neurofibromatosis was inherited as an autosomal dominant had hypertrophic cardiomyopathy and neurofibromatosis. Idiopathic hypertrophic cardiomyopathy may have occurred by chance in two first degree relatives with neurofibromatosis. An alternative explantation is that these diseases are both manifestations of a common hereditary defect of neural crest tissue. Another possibility is that abnormalities of catecholamine metabolism and nerve growth factor in neurofibromatosis can cause secondary ventricular hypertrophy with septal involvement.

Citing Articles

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?.

Alkindy A, Chuzhanova N, Kini U, Cooper D, Upadhyaya M Hum Genomics. 2012; 6:12.

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Perioperative management of neurofibromatosis type 1.

Fox C, Tomajian S, Kaye A, Russo S, Abadie J, Kaye A Ochsner J. 2012; 12(2):111-21.

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Cardiomyocyte-specific loss of neurofibromin promotes cardiac hypertrophy and dysfunction.

Xu J, Ismat F, Wang T, Lu M, Antonucci N, Epstein J Circ Res. 2009; 105(3):304-11.

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Hypertrophic cardiomyopathy and systemic lupus erythematosus.

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Cardiomyopathy in infancy: observations in an epidemiologic study.

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