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Related Concept Videos

Mitral Stenosis I: Introduction01:22

Mitral Stenosis I: Introduction

871
Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...
871
Mitral Valve Prolapse I: Introduction01:27

Mitral Valve Prolapse I: Introduction

670
IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...
670
Mitral Regurgitation I: Introduction01:20

Mitral Regurgitation I: Introduction

678
Mitral regurgitation is characterized by the backward circulation of blood from the left ventricle to the left atrium during systole, a phase of the cardiac cycle when the heart contracts and pumps blood out of the chambers. This abnormal flow occurs primarily due to the dysfunction of the mitral valve or its supporting structures, which include the mitral leaflets, chordae tendineae, annulus, and papillary muscles.Etiology and Mechanisms:Primary Mitral Regurgitation: This type arises from...
678
Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

309
Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
309
Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

605
Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
605
Mitral Valve Prolapse II: Assessment and Management01:22

Mitral Valve Prolapse II: Assessment and Management

750
IntroductionA range of clinical features characterizes Mitral Valve Prolapse (MVP), but it is important to note that many individuals with MVP are asymptomatic and may remain so throughout their lives. For those who do exhibit symptoms, the following are the key clinical features:Palpitations: This is a common symptom where individuals feel an irregular or rapid heartbeat. Palpitations in MVP are often due to arrhythmias such as premature ventricular contractions or supraventricular...
750

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Updated: Feb 23, 2026

Investigating Aortic Valve Calcification via Isolation and Culture of T Lymphocytes using Feeder Cells from Irradiated Buffy Coat
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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
PubMed
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.

Keywords:
AcidosisCalcinosisRenal tubular

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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.