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Congenital Valvular Dysplasia

Congenital Mitral Valve Dysplasia


Presentation

  • In each of 16 patients studied, a pulmonary ejection murmur was present, but this was not associated with an ejection click.[circ.ahajournals.org]
  • Other more rare anomalies that present within the right atrium, namely cor triatriatum dextrum and the Chiari network, are also detailed.[mayoclinic.pure.elsevier.com]
  • Later presenting symptoms typically include dyspnea, chestpain and rarely syncope from acute reduction in cardiac output. Increasing fatigue and decreasing exercise tolerance however is probably the commonest presentation.[bcm.edu]
  • Stenosis - when the valve doesn't open enough and blocks blood flow Valve problems can be present at birth or caused by infections, heart attacks, or heart disease or damage.[icdlist.com]
  • Acronym CVDX Synonyms Congenital valvular dysplasia Congenital valvular heart disease CVD1 X-linked myxomatous valvular dystrophy XMVD Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational[uniprot.org]
Atrial Septal Defect
  • If Ebstein's anomaly occurs along with an atrial septal defect, the hole will be closed at the same time. Patent ductus arteriosus (PDA) Some cases of PDA can be treated with medication shortly after birth.[nhs.uk]
  • NIH: National Heart, Lung, and Blood Institute Atrial septal defect (Medical Encyclopedia) Bicuspid aortic valve (Medical Encyclopedia) Congenital heart defect corrective surgeries (Medical Encyclopedia) Congenital heart disease (Medical Encyclopedia)[icdlist.com]
  • Most children also have an atrial septal defect, which is a hole between the two upper filling chambers (atria). This is another route for oxygen-poor blood to travel around the body instead of being pumped to the lungs.[gosh.nhs.uk]
Pulmonary Valve Stenosis
  • Long-term follow-up of patients after surgical treatment for isolated pulmonary valve stenosis. Mayo Clin Proc. 2005;80:871.1.[link.springer.com]
  • Pulmonary valve stenosis Mild pulmonary valve stenosis doesn't require treatment, because it doesn't cause any symptoms or problems. More severe cases of pulmonary valve stenosis usually require treatment, even if they cause few or no symptoms.[nhs.uk]
  • Congenital Heart Defect ID sheet More information for adults with pulmonary valve stenosis What causes it? In most cases, the cause isn't known. It's a common type of heart defect.[heart.org]
Congestive Heart Failure
  • Showing of 9 Percent of people who have these symptoms is not available through HPO Abnormality of metabolism/homeostasis Laboratory abnormality Metabolism abnormality [ more ] 0001939 Aortic regurgitation 0001659 Congestive heart failure Cardiac failure[rarediseases.info.nih.gov]
  • This may lead to congestive heart failure. Mitral regurgitation may begin suddenly. This often occurs after a heart attack. When the regurgitation does not go away, it becomes long-term (chronic).[baptistjax.com]
Inflammation
  • Other rare complications of X-linked cardiac valvular dysplasia include inflammation of the inner lining of the heart (endocarditis), abnormal blood clots, or sudden death.[ghr.nlm.nih.gov]
Swelling
  • Swelling of the left lower heart chamber Another important risk factor for mitral regurgitation is past use of a diet pill called "Fen-Phen" (fenfluramine and phentermine) or dexfenfluramine. The drug was removed from the market by the U.S.[baptistjax.com]
Heart Disease
  • […] defect (Medical Encyclopedia) [ Read More ] Heart Valve Diseases Also called: Valvular heart disease Your heart has four valves.[icdlist.com]
  • Definition A rare X-linked heart disease characterized by mitral and/or aortic valve regurgitation.[uniprot.org]
  • You are at risk for mitral valve regurgitation if you have: Coronary heart disease and high blood pressure Infection of the heart valves Mitral valve prolapse (MVP) Rare conditions, such as untreated syphilis or Marfan syndrome Rheumatic heart disease[baptistjax.com]
  • Original language English (US) Title of host publication Echocardiography in Pediatric and Congenital Heart Disease: From Fetus to Adult: Second Edition Publisher Wiley Blackwell Pages 231-242 Number of pages 12 ISBN (Electronic) 9781118742440 ISBN (Print[mayoclinic.pure.elsevier.com]
Cyanosis
  • Cyanosis, cardiomegaly and right ventricular failure in the neonatal period raised the differential diagnosis of Ebstein's anomaly and Uhl's disease. The outcome was fatal in several days to weeks. Autopsy confirmed the diagnosis.[ncbi.nlm.nih.gov]
  • Symptoms may manifest in the newborn period with cardiac failure, and occasionally with cyanosis and shock, particularly when associated with hypoplastic left heart syndrome.[bcm.edu]
  • Signs and symptoms of severe defects in newborns include Rapid breathing Cyanosis - a bluish tint to the skin, lips, and fingernails Fatigue Poor blood circulation Many congenital heart defects cause few or no signs and symptoms.[icdlist.com]
  • As oxygen-rich blood is unable to flow around the body as usual, a child may develop a blue tinge to their skin, lips and nails (cyanosis). They may have difficulty breathing and be unable to feed so do not gain weight after birth.[gosh.nhs.uk]
Heart Failure
  • --In the adult, surgery, indicated for heart failure resistant to all medical treatment, is as for other organic tricuspid incompetence, annuloplasty or valve replacement, by mechanical or bioprosthesis.[ncbi.nlm.nih.gov]
  • This may lead to congestive heart failure. Mitral regurgitation may begin suddenly. This often occurs after a heart attack. When the regurgitation does not go away, it becomes long-term (chronic).[baptistjax.com]
  • Showing of 9 Percent of people who have these symptoms is not available through HPO Abnormality of metabolism/homeostasis Laboratory abnormality Metabolism abnormality [ more ] 0001939 Aortic regurgitation 0001659 Congestive heart failure Cardiac failure[rarediseases.info.nih.gov]
  • This is because there's a high risk of heart failure in later life if it's not treated. As with aortic valve stenosis, the main treatment for pulmonary valve stenosis is a balloon to the pulmonary valve (valvuloplasty).[nhs.uk]
Cardiomegaly
  • Cyanosis, cardiomegaly and right ventricular failure in the neonatal period raised the differential diagnosis of Ebstein's anomaly and Uhl's disease. The outcome was fatal in several days to weeks. Autopsy confirmed the diagnosis.[ncbi.nlm.nih.gov]
  • A radiographic study was conducted as an adjunct to physical examination, by which, generalized cardiomegaly, dorsal displacement of the trachea, lung radiopacity with alveolar pattern is observed, plus an echocardiogram in which ventricular septal defect[ri.uaemex.mx]
  • There is marked cardiomegaly with the left ventricle apex displaced to the left chest wall. The left atrium displaces the esophagus to the right. The pulmonary vascular markings are normal. B.[bcm.edu]
Ejection Murmur
  • In each of 16 patients studied, a pulmonary ejection murmur was present, but this was not associated with an ejection click.[circ.ahajournals.org]

Workup

Right Axis Deviation
  • The electrocardiogram showed a greater degree of right axis deviation than is found in most cases of dome-shaped pulmonary stenosis.[circ.ahajournals.org]

Treatment

  • TREATMENT: --In the newborn, the rare surgical attempts at repair have all failed.[ncbi.nlm.nih.gov]
  • If treatment is required, a procedure called a balloon valvuloplasty is often the recommended treatment option in children and younger people.[nhs.uk]
  • Many children with congenital heart defects don't need treatment, but others do. Treatment can include medicines, catheter procedures, surgery, and heart transplants.[icdlist.com]
  • Describe the clinical course and treatment of aortic stenosis. Describe the presentation of children who have pulmonary stenosis and the treatment of choice.[pedsinreview.aappublications.org]
  • Treatment Treatment will depend on what symptoms you have, what condition caused the mitral valve regurgitation, how well the heart is working, and if the heart has become enlarged.[baptistjax.com]

Prognosis

  • You may need surgery to repair or replace the valve if: Heart function is poor The heart becomes enlarged (dilated) Symptoms get worse Outlook (Prognosis) The outcome varies.[baptistjax.com]

Pathophysiology

  • Tricuspid valve anomalies are part of the pathological spectrum in various congenital heart diseases, including Ebstein anomaly and tricuspid valve dysplasia, with different pathophysiology and clinical implications.[books.google.com]
  • Pathophysiology A systolic pressure gradient between the pumping chamber and its downstream artery is the primary hemodynamic abnormality of stenosis regardless of whether the obstruction is right- or left-sided.[pedsinreview.aappublications.org]
  • Pathophysiological mechanisms of atrial fibrillation: a translational appraisal . Physiol Rev 2011 ; 91 : 265 – 325 . 5. Apostolakis , E , Shuhaiber , JH . The surgical management of giant left atrium .[cambridge.org]

Prevention

  • Endocarditis Prevention If you have PS, you don't need to take antibiotics to prevent endocarditis unless you've had prior endocarditis or you've had valve replacement. See the section on Endocarditis for more information.[heart.org]
  • Treat strep infections quickly to prevent rheumatic fever. Always tell your provider and dentist if you have a history of heart valve disease or congenital heart disease before treatment.[baptistjax.com]
  • Valve prolapse further prevents the thickened valve from closing properly and can lead to valve regurgitation.[ghr.nlm.nih.gov]
  • This will prevent the passage between the aorta and pulmonary arteries (the ductus arteriosus) closing after birth.[nhs.uk]

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