[Hypertrophic cardiomyopathy associated with Noonan's syndrome and membranous aortic subvalvular stenosis associated with Turner's syndrome. Report of 2 clinical cases]. 1987

E Perrotta Scaravilli, and D Pontillo, and F Pennacchia, and A Boccanelli, and C Greco, and P Lo Schiavo
Divisione di Cardiologia A, Ospedale San Camillo, Roma.

Cardiovascular anomalies are found in 50% of the cases of Turner's and Noonan's syndromes-diseases with the same phenotype but with a different genotype. In the former, the most common congenital heart diseases are aortic coarctation (30%) and bicuspid aortic valve (34%), while in the latter they are pulmonary valvular stenosis (60%), interatrial septal defect (25%) and obstructive or non obstructive hypertrophic cardiomyopathy (17%). We have described two cases, respectively of Noonan's and Turner's syndrome. The prominent features of the first case are the transmission of the syndrome on the male line, since father and son--the latter being our patient--are affected with the same syndrome, and the occurrence of a non obstructive hypertrophic cardiomyopathy involving both the ventricles, a situation not yet described in Noonan's syndrome. A subvalvular membranous aortic stenosis has instead been found in our patient with Turner's syndrome: this cardiac anomaly has never been described within the aforementioned syndrome in medical literature.

UI MeSH Term Description Entries
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
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
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002312 Cardiomyopathy, Hypertrophic A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY). Cardiomyopathy, Hypertrophic Obstructive,Cardiomyopathies, Hypertrophic,Cardiomyopathies, Hypertrophic Obstructive,Hypertrophic Cardiomyopathies,Hypertrophic Cardiomyopathy,Hypertrophic Obstructive Cardiomyopathies,Hypertrophic Obstructive Cardiomyopathy,Obstructive Cardiomyopathies, Hypertrophic,Obstructive Cardiomyopathy, Hypertrophic
D004452 Echocardiography Ultrasonic recording of the size, motion, and composition of the heart and surrounding tissues. The standard approach is transthoracic. Echocardiography, Contrast,Echocardiography, Cross-Sectional,Echocardiography, M-Mode,Echocardiography, Transthoracic,Echocardiography, Two-Dimensional,Transthoracic Echocardiography,2-D Echocardiography,2D Echocardiography,Contrast Echocardiography,Cross-Sectional Echocardiography,Echocardiography, 2-D,Echocardiography, 2D,M-Mode Echocardiography,Two-Dimensional Echocardiography,2 D Echocardiography,Cross Sectional Echocardiography,Echocardiography, 2 D,Echocardiography, Cross Sectional,Echocardiography, M Mode,Echocardiography, Two Dimensional,M Mode Echocardiography,Two Dimensional Echocardiography
D004562 Electrocardiography Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY. 12-Lead ECG,12-Lead EKG,12-Lead Electrocardiography,Cardiography,ECG,EKG,Electrocardiogram,Electrocardiograph,12 Lead ECG,12 Lead EKG,12 Lead Electrocardiography,12-Lead ECGs,12-Lead EKGs,12-Lead Electrocardiographies,Cardiographies,ECG, 12-Lead,EKG, 12-Lead,Electrocardiograms,Electrocardiographies, 12-Lead,Electrocardiographs,Electrocardiography, 12-Lead
D005260 Female Females
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

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