Case Presentation: CVS - RHD with MS + MR

(Rheumatic Heart Disease - Mitral Stenosis + Mitral Regurgitation)

PRESENTING COMPLAINTS

1. Breathlessness on exertion - ___ months/years
2. Palpitations - ___ months/years
3. Swelling of feet - ___ months/years
4. (If present) Haemoptysis - ___ months/years
5. (If present) Orthopnoea / PND - ___ months/years

HISTORY OF PRESENTING ILLNESS

Onset and Progression

• Breathlessness: Started insidiously approximately ___ years ago, initially only on heavy exertion (climbing 2-3 flights of stairs / walking fast). Gradually progressive over the years, now present on mild exertion (walking 100-200 metres on flat ground). Orthopnoea present with ___ pillows. PND present / absent. (NYHA Class ___)
• Palpitations: Irregular / regular, episodic or persistent, associated with breathlessness. Fast or slow onset. Relieved by rest / medication.
• Oedema feet / ankle swelling: Bilateral, pitting, worse in evenings, extending up to ankle / knee / thigh.
• Haemoptysis (if present): Frank blood / blood-streaked sputum, ___ episodes, mild / moderate volume. (Due to rupture of pulmonary-bronchial venous anastomoses from high LA pressure.)
• Chest pain: Atypical / typical angina - present/absent.
• Hoarseness of voice (Ortner syndrome): Present/absent - due to impingement of enlarged LA on left recurrent laryngeal nerve.
• Dysphagia: Present/absent - enlarged LA compressing oesophagus.
• Decreased urine output / abdominal distension: Right heart failure symptoms - present/absent.
• Symptoms of systemic embolism: TIA / CVA / cold painful limb - present/absent (MS with AF is major risk for embolism).
• Syncopal episodes: Present/absent.

PAST HISTORY

Rheumatic Fever History (Critical - often absent in endemic regions)

• History of recurrent sore throat / tonsillitis in childhood (usually 5-15 years of age) - present/absent.
• History of acute rheumatic fever (ARF): Joint pains (migratory polyarthritis) + fever + skin rash (erythema marginatum) + subcutaneous nodules + chorea (Sydenham's) - present/absent.
  • (NOTE: ~75% of patients in endemic countries like India do NOT recall a clear ARF episode; subclinical carditis is common - Braunwald's Heart Disease)
• History of past hospitalisation for breathlessness / heart disease.
• History of rheumatic fever prophylaxis (benzathine penicillin injections) - taken/not taken, regular/irregular, for how many years.
• History of cardiac catheterisation / balloon mitral valvotomy (BMV) - date, outcome.
• History of previous cardiac surgeries (open mitral commissurotomy, MVR).

Other Relevant Past History

• Hypertension - present/absent
• Diabetes mellitus - present/absent
• Thyroid disease - present/absent (hyperthyroidism can precipitate AF and worsen MS symptoms)
• Infective endocarditis - present/absent
• Renal disease - present/absent
• Previous streptococcal throat infections treated with antibiotics

TREATMENT HISTORY

• Diuretics (furosemide, spironolactone) - since when, current dose
• Digoxin / beta-blocker / calcium channel blockers (rate control in AF)
• Warfarin / DOAC (anticoagulation in AF) - INR monitoring
• ACE inhibitors / ARBs (if MR predominant with LV dysfunction)
• Penicillin prophylaxis - monthly IM benzathine penicillin G - regular or defaulted

PERSONAL HISTORY

• Diet: Vegetarian / non-vegetarian, appetite (reduced in advanced HF - cardiac cachexia)
• Bowel and bladder: Normal / oliguria / nocturia
• Sleep: Disturbed due to orthopnoea / PND / nocturia
• Menstrual history (if female): Regular / irregular; obstetric history - number of pregnancies, any deterioration during pregnancy (MS worsens significantly in pregnancy due to ~50% increase in cardiac output - Braunwald's)
• Occupation: Nature of work (sedentary / labour-intensive - functional capacity)
• Exercise tolerance: Daily routine activities affected?

SOCIOECONOMIC HISTORY

• Socioeconomic status: Lower / middle class (RHD predominantly affects LMIC populations and lower socioeconomic strata with overcrowding, poor access to antibiotics)
• Living conditions: Overcrowded household? - facilitates GAS pharyngeal spread
• Literacy: Can the patient understand and follow medication adherence?
• Financial constraints: Affecting drug compliance / prophylaxis?

FAMILY HISTORY

• Any family member with RHD / valvular heart disease / recurrent sore throats
• Family history of atrial fibrillation
• History of sudden cardiac death in family

HABITS

• Smoking: Pack years (pulmonary hypertension confounders)
• Alcohol: Frequency, amount (dilated cardiomyopathy differential)
• Tobacco chewing

REVIEW OF SYSTEMS (Focused CVS)

FUNCTIONAL STATUS (NYHA Classification - key for presentation)

SAMPLE PRESENTING HISTORY (Proforma - fill with actual values)

Mrs. X, a 25-35 year old female from a rural area (low socioeconomic background), presented with breathlessness on exertion for 5 years, worsening progressively, now present on walking less than 100 metres (NYHA Class III). She also complaints of palpitations (irregular) for 3 years, bilateral pedal oedema for 1 year, and occasional blood-streaked sputum for 6 months. She has 2-pillow orthopnoea and 2-3 episodes of PND per month.

She gives a history of recurrent sore throat in childhood and one episode of joint pains with fever at age 12 years for which she was hospitalised but received no long-term penicillin prophylaxis. She was diagnosed with rheumatic heart disease 4 years ago on echocardiography. She has been irregular with medications. She has had 2 pregnancies - second pregnancy complicated by worsening breathlessness.

No history of TIA, stroke, or syncope. No significant family history. Non-smoker, non-alcoholic.

CLINICAL CLUES TO LOOK FOR ON EXAMINATION (Briefly - to direct examiner's focus after history)

• Malar flush (mitral facies - dusky pink patches over cheekbones due to low cardiac output and pulmonary hypertension)
• Clubbing (uncommon; look for in chronic severe disease)
• Pallor, icterus (hepatic congestion)
• Bilateral pitting pedal oedema
• Elevated JVP (large 'a' wave in sinus rhythm - TR component; absent if AF)

• Apical impulse: Tapping, not displaced (in pure MS); displaced if MR dominates or cardiomegaly
• Parasternal heave (right ventricular hypertrophy from pulmonary hypertension)
• Auscultation at apex: Loud S1, opening snap (OS), mid-diastolic rumbling murmur (MDM) with presystolic accentuation (if in sinus rhythm) - hallmark of MS
• Pansystolic murmur at apex radiating to axilla - mitral regurgitation
• Differentiation: MDM = MS; PSM = MR; both present simultaneously here

KEY DIFFERENTIALS TO MENTION IN PRESENTATION

1. RHD with MS + MR (most likely in Indian young female)
2. Infective endocarditis on top of RHD
3. Dilated cardiomyopathy with functional MR
4. Congenital mitral valve disease (rare, younger patients)
5. Left atrial myxoma (mimics MS)

INVESTIGATIONS TO PROPOSE (Post-history, for completeness)

• ECG: P mitrale (bifid P in lead II), AF, RV hypertrophy pattern
• Chest X-ray PA view: LA enlargement (double density right heart border, straightened left heart border), pulmonary venous congestion, Kerley B lines
• 2D Echocardiography with Doppler: Gold standard - MVA by planimetry/PHT, mean gradient, MR grade, Wilkins score for BMV suitability, LA size, RVSP, LV function
• Bloods: CBC, CRP/ESR, BNP, renal function, LFT, prothrombin time/INR
• Blood cultures: If endocarditis suspected
• ASO titre: Evidence of recent GAS infection

References

• Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, Chapter 75 - Rheumatic Mitral Stenosis
• Goldman-Cecil Medicine, Chapter 60 - Valvular Heart Disease: Clinical Manifestations
• Braunwald's Heart Disease - Epidemiology and Natural History of RMS in endemic vs. non-endemic regions

• Start with demographics (young woman from rural India/low SES = classic profile)
• Emphasize the ARF-to-RHD timeline (ARF in childhood, MS symptoms 2-3 decades later in endemic regions; may be faster/younger in India)
• Always ask specifically about penicillin prophylaxis compliance
• In combined MS+MR, both obstructive (low CO) and regurgitant (volume overload) symptoms coexist - mention both
• AF is a major complication - ask about palpitations, embolic events, anticoagulation
• Pregnancy markedly worsens MS - always take obstetric history in women of childbearing age