Congenital Mitral Stenosis Clinical Presentation
- Author: M Silvana Horenstein, MD; Chief Editor: Stuart Berger, MD more...
Congenital mitral stenosis (MS) in infancy
Patients with severe MS may present with respiratory distress from pulmonary edema shortly after birth if a significant atrial septal communication is not present. The presence of an atrial septal defect decompresses the left atrium, resulting in a clinical picture of pulmonary overcirculation and decreased systemic cardiac output.
Patients with mild-to-moderate MS present after the neonatal period with signs of low cardiac output and RV failure such as pulmonary infections, failure to gain weight, exhaustion and diaphoresis with feeding, tachypnea, and chronic cough.
Congenital MS in older children
Children with MS may present with the insidious onset of exercise limitation and other clinical signs.
Pulmonary congestion evidenced by increasing severity of dyspnea (depending on degree of MS) that may range from dyspnea during exercise to paroxysmal nocturnal dyspnea, orthopnea, or even frank pulmonary edema. Dyspnea may be precipitated or worsened by an increase in blood flow across the stenotic mitral valve (eg, pregnancy, exercise) or by a reduction in diastolic filling time achieved by increasing the heart rate (eg, emotional stress, fever, respiratory infection, atrial fibrillation with rapid ventricular rate).
Signs of right heart failure, including peripheral edema and fatigue, may be present.
Patients with MS, including those previously without symptoms may develop atrial fibrillation, although this is an uncommon event in childhood. It results from chronic distension of the left atrium. Atrial fibrillation may cause the following:
Loss of the atrial kick to LV filling reduces systemic output; this may precipitate or exacerbate congestive heart failure.
Thromboembolic events (seeding of systemic emboli) occur in 10-20% of patients with MS. Many of these emboli lodge in the brain, causing a stroke.
Infective endocarditis (a rare event) should be suspected when embolization occurs during sinus rhythm.
Hemoptysis may be caused by rupture of dilated bronchial veins. Pink frothy sputum may be a manifestation of frank pulmonary edema. Both are associated with end-stage severe MS but rarely occur in pediatric patients.
Chest pain occurs in approximately 15% of patients with MS.
Dysphagia can be produced by compression of the esophagus as a result of a dilated left atrium. It rarely occurs in children.
Hoarseness can occur if the dilated left atrium impinges on the recurrent laryngeal nerve. It is a rare manifestation of severe MS.
Physical examination findings vary according to the severity of MS.
Features of mild-to-moderate MS include the following:
Normal peripheral pulses and good perfusion
Loud S 1 caused by abrupt closure of the stenotic mitral valve
Increased intensity of the pulmonic component of the second heart sound in proportion to elevation of pulmonary arterial pressure
A long low-frequency diastolic murmur beginning shortly after S 2 best heard at the apex, with late diastolic accentuation (as long as sinus rhythm is present) (Intensity and length of the murmur are in proportion to severity of the obstruction.)
Possible demonstration of S 4 at the apex in older children
Features of severe MS include the following:
Diminished peripheral perfusion and pulses
Palpation of an RV impulse (enlarged RV) when pulmonary hypertension is present
Soft S 1 in the presence of heart failure and diminished left ventricular filling
Accentuation of the pulmonic component of S 2 with minimal respiratory splitting of S 2
Holodiastolic murmur with presystolic accentuation best heard at apex (The diastolic murmur may diminish secondary to low cardiac output from heart failure.)
With severe pulmonary hypertension, possible occurrence of a high-frequency early diastolic murmur of pulmonic valve regurgitation in the pulmonic listening area
RV S 3 or S 4
The etiology of congenital MS remains unknown. However, prevalence of MS in offspring of family members (especially the mother) with left ventricular outflow tract obstruction is increased.
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