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Calcium on Mitral Valve: Decipher Aetiopathogenesis
Rohan P Parikh1, Ashlesh Tiwari1, Sunil Washimkar2
1Senior Resident, Department of Cardiology, Govt. Medical College and Super Speciality Hospital, Nagpur, Maharashtra, India.
Journal of Clinical and Diagnostic Research : JCDR
|September 13, 2017
Summary
This case report details a rare instance of severe mitral regurgitation and corneal calcification in a young female due to congenital distal renal tubular acidosis. The findings highlight unique clinical presentations of this metabolic disorder.
Area of Science:
- Nephrology
- Cardiology
- Ophthalmology
Background:
- Distal renal tubular acidosis (dRTA) is a congenital metabolic disorder affecting kidney function.
- Severe mitral regurgitation and corneal calcification are not typical manifestations of dRTA.
Observation:
- A 17-year-old female presented with severe mitral regurgitation due to heavily calcified, immobile mitral valve leaflets.
- Corneal calcification was also noted, attributed to congenital systemic metabolic disorder, distal renal tubular acidosis.
- Histopathology confirmed no intrinsic mitral valve pathology.
Findings:
- This case represents a previously undocumented presentation of congenital distal renal tubular acidosis with normokalemia, severe mitral valve calcification, and corneal calcification.
- The mitral valve calcification was secondary to the metabolic disorder, not intrinsic valve disease.
Implications:
- This case expands the known clinical spectrum of distal renal tubular acidosis.
- Highlights the importance of recognizing rare clinical features for accurate diagnosis and management of metabolic disorders.
- Underscores the need for comprehensive evaluation in complex cases, even when genetic analysis is not immediately feasible.
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