Biomaterial Database

Dilated cardiomyopathy in Noonan's syndrome. 1996

C M Yu, and L T Chow, and J E Sanderson

Department of Medicine, Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, N.T., Hong Kong.

Hypertrophic cardiomyopathy, with myocardial fibre disarray, may occur in 20-25% of cases with Noonan's syndrome. However, dilated cardiomyopathy has not previously been reported. We describe a patient with Noonan's syndrome who presented with typical features of dilated cardiomyopathy with biventricular enlargement and left ventricular ejection fraction of 0.16. Endomyocardial biopsy showed focal interstitial fibrosis and fibre hypertrophy but no disarray. This is the first report in the world literature of an association between Noonan's syndrome and dilated cardiomyopathy. It is possible that this linkage with dilated rather than hypertrophic cardiomyopathy is more common in the Chinese.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009634	Noonan Syndrome	A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.	Male Turner Syndrome,Turner Syndrome, Male,Familial Turner Syndrome,Female Pseudo-Turner Syndrome,Noonan Syndrome 1,Noonan-Ehmke Syndrome,Pseudo-Ullrich-Turner Syndrome,Turner Phenotype with Normal Karyotype,Turner's Phenotype, Karyotype Normal,Turner's Syndrome, Male,Turner-Like Syndrome,Ullrich-Noonan Syndrome,Female Pseudo Turner Syndrome,Male Turner's Syndrome,Noonan Ehmke Syndrome,Pseudo Ullrich Turner Syndrome,Pseudo-Turner Syndrome, Female,Turner Like Syndrome,Turner Syndrome, Familial,Ullrich Noonan Syndrome
D002311	Cardiomyopathy, Dilated	A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.	Cardiomyopathy, Congestive,Congestive Cardiomyopathy,Dilated Cardiomyopathy,Cardiomyopathy, Dilated, 1a,Cardiomyopathy, Dilated, Autosomal Recessive,Cardiomyopathy, Dilated, CMD1A,Cardiomyopathy, Dilated, LMNA,Cardiomyopathy, Dilated, With Conduction Defect 1,Cardiomyopathy, Dilated, with Conduction Deffect1,Cardiomyopathy, Familial Idiopathic,Cardiomyopathy, Idiopathic Dilated,Cardiomyopathies, Congestive,Cardiomyopathies, Dilated,Cardiomyopathies, Familial Idiopathic,Cardiomyopathies, Idiopathic Dilated,Congestive Cardiomyopathies,Dilated Cardiomyopathies,Dilated Cardiomyopathies, Idiopathic,Dilated Cardiomyopathy, Idiopathic,Familial Idiopathic Cardiomyopathies,Familial Idiopathic Cardiomyopathy,Idiopathic Cardiomyopathies, Familial,Idiopathic Cardiomyopathy, Familial,Idiopathic Dilated Cardiomyopathies,Idiopathic Dilated Cardiomyopathy
D006439	Hemodynamics	The movement and the forces involved in the movement of the blood through the CARDIOVASCULAR SYSTEM.	Hemodynamic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D001706	Biopsy	Removal and pathologic examination of specimens from the living body.	Biopsies
D018487	Ventricular Dysfunction, Left	A condition in which the LEFT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE; MYOCARDIAL INFARCTION; and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the left ventricular wall.	LV Diastolic Dysfunction,LV Dysfunction,LV Systolic Dysfunction,Left Ventricular Diastolic Dysfunction,Left Ventricular Dysfunction,Left Ventricular Systolic Dysfunction,Diastolic Dysfunction, LV,Dysfunction, LV,Dysfunction, LV Diastolic,Dysfunction, LV Systolic,Dysfunction, Left Ventricular,LV Diastolic Dysfunctions,LV Dysfunctions,LV Systolic Dysfunctions,Left Ventricular Dysfunctions,Systolic Dysfunction, LV
D018619	Echocardiography, Doppler, Pulsed	Echocardiography applying the Doppler effect, with velocity detection combined with range discrimination. Short bursts of ultrasound are transmitted at regular intervals and the echoes are demodulated as they return.	Doppler Echocardiography, Pulsed,Echocardiography, Pulsed Doppler,Doppler Pulsed Echocardiography,Echocardiography, Doppler Pulsed,Pulsed Doppler Echocardiography,Pulsed Echocardiography, Doppler