Severe Mitral Stenosis

Dr Deepashree Thakur¹, Dr Ajay Kumar Sinha², Dr Pramod Kumar³, Dr Vivek Ranjan^4*, Dr Amit Munjal⁵

1,2,3,4 Jai prabha medanta superspeciality hospital, Patna, Bihar, India.

5 Dr Asha memorial Munjal Multispeciality Hospital, Fatehabad, Haryana, India.

*Correspondence to: Dr Vivek Ranjan,

              
Copyright.

© 2025 Dr Vivek Ranjan This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Received: 24 Sep 2025

Published: 01 Oct 2025

Introduction

Chief Complaint and History

•           A 14-year-old girl presented with fever.

•           Cough x 25 days and SOB x 20 days

•           Fever with non-productive cough since, 25 days

•           After 5 days patient developed shortness of breath which was progressive.

•           No h/o blood in cough, rashes, TB contact.

•           Patient was shown at a private clinic outside where HRCT and Echo was done.

•           HRCT showed Left sided consolidation with mild pleural effusion.

•           Echocardiography showed severe mitral stenosis, mild mitral regurgitation with LA dilatation.

•           Patient was then referred to Bettiah Medical College from where she was referred here.

 

On Admission

•           Afebrile,

•           Weight-25 Kg(< 3RD PECENTILE) , Height -128 cms( < 3RD PECENTILE )

•           PR-115/min , RR-38/min , SpO2 –90% in RA , BP-105/67 , RBS -132

•           Anemia +, Bilateral pedal edema noted

•           R/S- B/L AE present with bilateral basal crepitations

•           ICR/SCR noted.

•           Firm hepatomegaly present

•           Patient was dyspneic and tachypneic with b/l foot edema -> CHF

•           Patient was admitted in Cardiology in HCC and put on NIV with 40% FiO2.

•           Antibiotics, diuretics along with heparin and beta blockers were started.

•           Patient dyspnea and tachypnea settled

•           Patient was weaned off NIV in a day

•           Bed side Echo revealed severe mitral stenosis, parachute mitral valve and severe PAH.

 

Figure 1

Figure 2

Figure 3

Figure 4

Figure 5

Figure 6

Figure 7

Thickened and fibrotic mitral valve leaflets with restricted mobility leading to severe mitral stenosis

(MV Orifice area-1.7cm2), Mild MR

Along with increased echogenicity of myocardium and subvalvular apparatus

Thickened aortic Valve with Mild aortic regurgitation, no stenosis

 

Why such mitral valve and aortic valve involved?

During patient review by me following observations were further made-

- Coarse facies

- Macroglossia

- Corneal clouding

- Umbilical Hernia

- Dysostosis multiplex

- hearing Problem

 

Along with severe mitral stenosis a strong suspicion of Mucopolysaccharidosis was made and urine was sent for MPS screening. We strongly suspicious about mucopolysacchridosis.

 

Figure 8

Figure 9

Figure 10

Figure 11

 

Echocardiographic finding in MPS

• Mitral > aortic valve thickening(left >>right side )

• Mild –moderate insufficiency (MR>AR), tricuspid insufficiency less extend

• Left ventricular hypertrophy (children >> adult)-pseudohypertrophy due GAG deposition and increased workload due to mitral valve insufficiency.

• Left ventricular ejection fraction is preserved till aortic stenosis or mitral stenosis.

• Left ventricular hypertrophy

Figure 13

• Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and VI.

• Cardiac valve thickening, dysfunction (more severe for left-sided than for right-sided valves), and hypertrophy are

commonly present; conduction abnormalities, coronary artery and other vascular involvement may also occur.

• Cardiac disease emerges silently and contributes significantly to early mortality.

 

Figure 14

• Mucopolysaccharidoses are a family of lysosomal storage disorders caused by deficiencies in enzymes required for breakdown and turnover of GAGs.

• Valves become thickened and cartilage-like, with shortened chordae and hypertrophic papillary muscles, all contributing to valve dysfunction.

• In 1 study of adults with attenuated MPS type I, 5 of 9 patients had mitral and/or aortic valve thickening, with all exhibiting mild or moderate valve insufficiency.

 

Figure 15

• Aortic and mitral stenosis is less common, particularly severe stenosis requiring valve replacement .

 

Figure 16

• The mean age was 12.24±5.21 years the youngest patient with cardiac involvement (mitral insufficiency) was 1.5 years old.

• When the relationship between cardiac involvement and age was examined, it was found that the patients’ cardiac involvement increased with age (p=0.031).

Figure 17

• Progressive deposition of GAGs within the cardiac valves can lead to regurgitation or stenosis severe enough to require surgical intervention.

• Cardiac valve surgery is among the procedures frequently performed in patients with MPS.

• Successful valve repair or replacement has been reported in individuals with all types of MPs.

• Standard medical and surgical techniques can be modified for MPS patients, and systemic therapies such as hematopoietic stem cell transplantation and enzyme replacement therapy (ERT) may alter overall disease progression with regression of ventricular hypertrophy and maintenance of ventricular function.

• Cardiac valve disease is usually unresponsive or, at best, stabilized, although ERT within the first few months of life may prevent valve involvement, a fact that emphasizes the importance of early diagnosis and treatment in MPS.

 

Figure 12

Please View attached pdf to view all images