Supravalvular Ring Mitral Stenosis Clinical Presentation

Updated: Dec 15, 2020
  • Author: Michael D Pettersen, MD; Chief Editor: Howard S Weber, MD, FSCAI  more...
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Supravalvar mitral ring can be diagnosed in one of the following ways:

  • Supravalvar mitral ring is most commonly diagnosed as an associated finding in other congenital heart disease (CHD).

  • Supravalvar mitral ring is occasionally the cause of congenital mitral stenosis in symptomatic children with dyspnea or pulmonary hypertension. The severity of symptoms depends on the level of left atrial and pulmonary venous hypertension.

  • Most patients become symptomatic by age 2 years.

  • In rare cases, this condition may be detected as an incidental finding in asymptomatic patients undergoing echocardiography for some unrelated reason.

Symptoms of supravalvar mitral ring with mitral stenosis include one or more of the following:

  • Dyspnea, nocturnal cough, and tachypnea from pulmonary venous congestion and increased lung stiffness

  • Frequent respiratory infections and wheezing from pulmonary congestion, increased fluid exudation, and left bronchial narrowing

  • Poor feeding, failure to thrive, fatigue, and sweating from heart failure and reduced cardiac output

  • Occasionally acute pulmonary edema or generalized edema

  • Hemoptysis and syncope in older patients



Physical signs in supravalvar mitral ring are usually related either to the associated CHD or to pulmonary arterial hypertension. Children with clinically significant mitral obstruction are often sick, with tachypnea and respiratory distress. Diminished cardiac output and poor perfusion lead to a low volume pulse and peripheral cyanosis. Systemic venous pressure may be elevated with the development of congestive heart failure (CHF). A prominent parasternal heave indicates right ventricular hypertrophy from pulmonary hypertension.

The pulmonary component of the second heart sound is accentuated and single. Unlike acquired mitral-valve stenosis, an opening snap of the mitral valve is not common in supravalvar mitral ring. An apical middiastolic murmur of mitral stenosis may be audible at the apex, especially in the left lateral decubitus, and it may exhibit presystolic accentuation. The murmur is prominent when supravalvar mitral ring is associated with ventricular septal defect (VSD) or patent ductus arteriosus (PDA), causing a large mitral inflow. [4]

Patients with chronic mitral obstruction develop signs of tricuspid regurgitation and CHF, such as hepatomegaly, engorged neck veins, large expansile CV waves in the jugular venous pulse, and a systolic murmur that accentuates in inspiration at the lower left sternal border.