ABSTRACT
Two siblings with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome associated with pulmonary valvular stenosis are reported. Although the syndrome is well documented, the genetic background and familial occurrence is not known and the association with cardiac anomalies has not previously been reported. This report is the first report which describes the combination of cardiac anomaly with MRKH syndrome.
Subject(s)
Abnormalities, Multiple/diagnosis , Genitalia, Female/abnormalities , Pulmonary Valve Stenosis/complications , Urogenital Abnormalities/complications , Uterus/abnormalities , Vagina/abnormalities , Child , Female , Genitalia, Female/diagnostic imaging , Humans , Infant , Karyotyping , Male , Pulmonary Valve Stenosis/diagnostic imaging , Pulmonary Valve Stenosis/genetics , Syndrome , Ultrasonography , Urogenital Abnormalities/diagnosis , Urogenital Abnormalities/geneticsSubject(s)
Choanal Atresia/genetics , Coloboma/genetics , Ear, Inner/abnormalities , Ear, Middle/abnormalities , Growth Disorders/genetics , Heart Defects, Congenital/genetics , Pupil Disorders/genetics , Adult , Choanal Atresia/complications , Coloboma/complications , Facial Paralysis/complications , Female , Growth Disorders/complications , Heart Defects, Congenital/complications , Humans , Pupil Disorders/complications , SyndromeSubject(s)
Catheterization, Central Venous/adverse effects , Heart Diseases/etiology , Thrombosis/etiology , Adolescent , Catheters, Indwelling/adverse effects , Echocardiography , Female , Heart Atria , Heart Diseases/diagnostic imaging , Humans , Plasminogen Activators/therapeutic use , Thrombosis/diagnostic imaging , Tissue Plasminogen Activator/therapeutic useSubject(s)
Carotid Arteries/pathology , Kidney Failure, Chronic/pathology , Tunica Intima/pathology , Tunica Media/pathology , Ventricular Dysfunction, Left/physiopathology , Ventricular Function, Left/physiology , Adolescent , Blood Pressure , Child , Echocardiography , Echocardiography, Doppler, Color , Female , Heart Function Tests , Humans , Kidney Failure, Chronic/blood , Kidney Failure, Chronic/complications , Male , Mitral Valve/physiology , Mitral Valve/physiopathology , Reference Values , Ventricular Dysfunction, Left/epidemiologySubject(s)
Heart Function Tests , Liver Transplantation , Patient Selection , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Liver Cirrhosis/surgery , Liver Diseases/classification , Liver Diseases/surgery , Male , Physical Examination , Retrospective Studies , Ventricular Function, LeftSubject(s)
Heart Transplantation , Transplantation, Heterologous , Endocarditis, Bacterial/etiology , Endocarditis, Bacterial/microbiology , Endocarditis, Bacterial/mortality , Heart Transplantation/mortality , Hospitals, University , Humans , Postoperative Complications , Pseudomonas Infections/etiology , Transplantation, Homologous , TurkeySubject(s)
Hemodynamics/physiology , Nitric Oxide/therapeutic use , Vasodilator Agents/therapeutic use , Ventricular Dysfunction, Right/drug therapy , Administration, Inhalation , Cardiomegaly/complications , Cardiomegaly/physiopathology , Hemodynamics/drug effects , Humans , Infant, Newborn , Male , Myocardial Ischemia/complications , Myocardial Ischemia/physiopathology , Nitric Oxide/administration & dosage , Vasodilator Agents/administration & dosage , Ventricular Dysfunction, Right/complications , Ventricular Dysfunction, Right/physiopathologyABSTRACT
We retrospectively studied the experience of our institution with isolated dysplasia of one or both atrio-ventricular valves in 22 newborn infants. All patients with associated cardiac malformations were excluded. Ten patients exhibited isolated tricuspid valve dysplasia. One patient had tricuspid valve dysplasia and a dysplastic pulmonary valve. In 10 patients, both atrio-ventricular valves were affected. Finally, mitral valve dysplasia was associated with pulmonary valve stenosis in 1 case. Associated syndromes and/or chromosomal anomalies were: Down syndrome (n=2), trisomy 18 (n=1), Noonan syndrome (n=1), Marfan syndrome (n=3), Ehlers-Danlos and Cutis laxa (n=2). Mortality was 27.2% during follow-up (mean 51 months): 3 patients with chromosomal aneuploidies, 2 patients with severe neonatal Marfan syndrome and 1 with Ehlers-Danlos. Complications were: sustained supra-ventricular tachycardia in 3, neonatal staphylococcal tricuspid valve endocarditis in 1, persistent significant valvular disease in 8. In the remaining 9 survivors, the dysplasia of the atrio-ventricular valves persists with absent or mild incompetence. Beside obvious chromosomal anomalies, newborn infants with dysplastic valves should be investigated for manifestations of connective tissue disorders. This may help to identify new pleiotropic syndromes which include valvular dysplasia as one manifestation.
Subject(s)
Mitral Valve/abnormalities , Tricuspid Valve/abnormalities , Aneuploidy , Chromosomes, Human, Pair 18 , Connective Tissue Diseases/diagnosis , Connective Tissue Diseases/genetics , Cutis Laxa/complications , Down Syndrome/complications , Ehlers-Danlos Syndrome/complications , Endocarditis, Bacterial/etiology , Follow-Up Studies , Humans , Infant, Newborn , Marfan Syndrome/complications , Mitral Valve Insufficiency/etiology , Noonan Syndrome/complications , Pulmonary Valve/abnormalities , Pulmonary Valve Stenosis/complications , Retrospective Studies , Staphylococcal Infections , Survival Rate , Tachycardia, Supraventricular/etiology , Tricuspid Valve Insufficiency/etiology , TrisomyABSTRACT
Our knowledge on relationships between nutrition, immunity and infection has much progressed. Malnutrition affects all three defence mechanisms: unspecific immunity, cellular immunity and humoral immunity. Any kind of nutriment is concerned: nitrogen-caloric nutriments, trace elements, vitamins. Restoration and maintenance of a good nutritional status have become imperative in order to stop the vicious cercle of malnutrition-infection in infants and children.
