Prolapsed mitral valve associated with the Holt-Oram syndrome. 1975

A B Miller, and E E Salcedo, and R C Bahler

The association of hypoplastic thumb and atrial septal defect, (Holt-Oram syndrome) with a prolapsed mitrial valve is described. Recognition of this association adds further support to the concept that the prolapsed mitrial valve syndrome is not necessarily an isolated cardiac disorder but may be part of a more generalized heritable disorder of connective tissue.

UI MeSH Term Description Entries
D008944 Mitral Valve Insufficiency Backflow of blood from the LEFT VENTRICLE into the LEFT ATRIUM due to imperfect closure of the MITRAL VALVE. This can lead to mitral valve regurgitation. Mitral Incompetence,Mitral Regurgitation,Mitral Valve Incompetence,Mitral Insufficiency,Mitral Valve Regurgitation,Incompetence, Mitral,Incompetence, Mitral Valve,Insufficiency, Mitral,Insufficiency, Mitral Valve,Regurgitation, Mitral,Regurgitation, Mitral Valve,Valve Incompetence, Mitral,Valve Insufficiency, Mitral,Valve Regurgitation, Mitral
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
D005260 Female Females
D006228 Hand Deformities, Congenital Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth. Congenital Hand Deformities,Congenital Hand Deformity,Deformities, Congenital Hand,Deformity, Congenital Hand,Hand Deformity, Congenital
D006328 Cardiac Catheterization Procedures in which placement of CARDIAC CATHETERS is performed for therapeutic or diagnostic procedures. Catheterization, Cardiac,Catheterization, Heart,Heart Catheterization,Cardiac Catheterizations,Catheterizations, Cardiac,Catheterizations, Heart,Heart Catheterizations
D006330 Heart Defects, Congenital Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life. Congenital Heart Disease,Heart Abnormalities,Abnormality, Heart,Congenital Heart Defect,Congenital Heart Defects,Defects, Congenital Heart,Heart Defect, Congenital,Heart, Malformation Of,Congenital Heart Diseases,Defect, Congenital Heart,Disease, Congenital Heart,Heart Abnormality,Heart Disease, Congenital,Malformation Of Heart,Malformation Of Hearts
D006337 Heart Murmurs Heart sounds caused by vibrations resulting from the flow of blood through the heart. Heart murmurs can be examined by HEART AUSCULTATION, and analyzed by their intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc). Cardiac Murmurs,Diastolic Murmurs,Innocent Murmurs,Cardiac Murmur,Diastolic Murmur,Heart Murmur,Innocent Murmur,Murmur, Cardiac,Murmur, Diastolic,Murmur, Heart,Murmur, Innocent,Murmurs, Cardiac,Murmurs, Diastolic,Murmurs, Heart,Murmurs, Innocent
D006344 Heart Septal Defects, Atrial Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects. Atrial Septal Defects,Ostium Primum Atrial Septal Defect,Persistent Ostium Primum,Atrial Septal Defect,Atrial Septal Defect Ostium Primum,Ostium Secundum Atrial Septal Defect,Defect, Atrial Septal,Ostium Primum, Persistent,Primum, Persistent Ostium,Septal Defect, Atrial
D006347 Heart Sounds The sounds heard over the cardiac region produced by the functioning of the heart. There are four distinct sounds: the first occurs at the beginning of SYSTOLE and is heard as a "lubb" sound; the second is produced by the closing of the AORTIC VALVE and PULMONARY VALVE and is heard as a "dupp" sound; the third is produced by vibrations of the ventricular walls when suddenly distended by the rush of blood from the HEART ATRIA; and the fourth is produced by atrial contraction and ventricular filling. Cardiac Sounds,Cardiac Sound,Heart Sound,Sound, Cardiac,Sound, Heart,Sounds, Cardiac,Sounds, Heart
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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