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Long QT Syndrome (LQTS)

Scenario: Recurrent syncope triggered by exercise or stress + On exam: normal physical findings + Investigation shows: QTc > 450 ms on ECG >>

• Most Likely Dx: Long QT Syndrome (LQTS)
• Most Common Cause: Congenital ion channelopathy (e.g., LQT1, LQT2) or drug-induced (e.g: macrolides, antipsychotics)
• Most Confirmatory Investigation: ECG with prolonged QTc; genetic testing for congenital LQTS
• Most Appropriate Next Step: Avoid QT-prolonging drugs and triggers
• Most Appropriate Intervention: Beta-blockers (e.g., propranolol); ICD in high-risk cases

 

Mnemonic: “Q.T.S.”

• QTc prolonged
• Triggers avoidance
• Safe with beta-blockers.

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Hypertrophic Obstructive Cardiomyopathy (HOCM)

Scenario: Exertional syncope or dyspnea + On exam: harsh systolic murmur that increases with Valsalva + Investigation shows: asymmetrical septal hypertrophy on echocardiography >>

• Most Likely Dx: Hypertrophic Obstructive Cardiomyopathy (HOCM)
• Most Common Cause: Autosomal dominant mutations in sarcomeric proteins
• Most Confirmatory Investigation: Echocardiography showing LV outflow obstruction
• Most Appropriate Next Step: Avoid strenuous exercise
• Most Appropriate Intervention: Beta-blockers; septal myectomy for refractory cases

 

Mnemonic: “H.O.C.M.”

• Harsh murmur increases with Valsalva
• Outflow obstruction
• Cardiac hypertrophy
• Manage with beta-blockers.

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Pericarditis

Scenario: Sharp, pleuritic chest pain, better when sitting forward + On exam: pericardial friction rub + Investigation shows: widespread ST elevation and PR depression on ECG >>

• Most Likely Dx: Acute Pericarditis
• Most Common Cause: Viral infection (Coxsackie virus)
• Most Confirmatory Investigation: ECG and echocardiography (to rule out effusion)
• Most specific change in ECG is: Depression of the PR segment in aVR lead
• Most Appropriate Next Step: Start NSAIDs and colchicine
• Most Appropriate Intervention: Monitor for pericardial effusion or tamponade

 

Mnemonic: “P.E.R.I.”

• Pain improves sitting forward
• ECG changes
• Rub on auscultation
• Initiate NSAIDs/colchicine

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ECG: Arterial Territory

Scenario: Acute chest pain + On exam: diaphoresis and hypotension + Investigation shows: ST elevation on ECG >>

• Inferior MI:
  • Territory: RCA or LCx
  • ECG Leads: II, III, aVF
• Anterior MI:
  • Territory: LAD
  • ECG Leads: V1-V4
• Most Appropriate Next Step: Emergency reperfusion therapy
• Most Appropriate Intervention: Primary PCI or thrombolysis (if  PCI facilities are unavailable)

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Parkinson’s Disease (Features and Management)

Scenario: Tremor, rigidity, and bradykinesia + On exam: resting tremor, cogwheel rigidity >>

• Most Likely Dx: Parkinson’s Disease
• Most Common Cause: Loss of dopaminergic neurons in the substantia nigra
• Most Confirmatory Investigation: Clinical diagnosis or DaT scan
• Most Appropriate Next Step: Start levodopa with carbidopa
• Most Appropriate Intervention: Add dopamine agonists or COMT inhibitors for advanced disease

 

Mnemonic: “T.R.A.P.”

• Tremor
• Rigidity
• Akinesia (bradykinesia)
• Postural instability.

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Progressive Supranuclear Palsy (PSP)

Scenario: Early falls, vertical gaze palsy, and axial rigidity + On exam: difficulty looking down, bradykinesia + Investigation shows: MRI with midbrain atrophy (“hummingbird sign”) >>

• Most Likely Dx: PSP
• Most Common Cause: Tauopathy
• Most Confirmatory Investigation: MRI of the brain
• Most Appropriate Next Step: Start supportive care
• Most Appropriate Intervention: Physiotherapy, speech therapy

 

Mnemonic: “P.S.P.”

• Postural instability
• Supranuclear gaze palsy
• Physiotherapy needed.

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Alzheimer’s Disease

Scenario: Progressive memory loss, disorientation, and personality changes + On exam: apraxia, agnosia + Investigation shows: MRI with hippocampal atrophy >>

• Most Likely Dx: Alzheimer’s Disease
• Most Common Cause: Beta-amyloid plaque and tau tangle accumulation
• Most Confirmatory Investigation: MRI brain and CSF biomarkers (low amyloid-beta, high tau)
• Most Appropriate Next Step: Educate family on disease progression
• Most Appropriate Intervention: Start cholinesterase inhibitors (donepezil); and memantine for moderate-to-severe disease

Mnemonic: “A.L.Z.”

• Amyloid plaques
• Loss of recent memory
• Zoom in with MRI/CSF marker               

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Asthma TX and Management:

Scenario: Recurrent wheezing episodes + Nocturnal cough + On exam: bilateral wheezes + Investigation shows: reduced FEV1/FVC ratio and reversibility with bronchodilator >>

• Most Likely Dx: Asthma
• Most Common Cause: Allergic triggers (e.g: dust mites, pollen)
• Most Confirmatory Investigation: Spirometry with bronchodilator reversibility test
• Most Appropriate Next Step: Start a low-dose inhaled corticosteroid (ICS)
• Most Appropriate Next Intervention: Stepwise approach (add LABA if uncontrolled with ICS)

 

Mnemonic: “S.A.L.S.A.” for Stepwise Asthma Management:

• SABA (Step 1)

• Add ICS (Step 2)

• LABA (Step 3)

• Step-up doses (Step 4)

• Assess + Specialist (Step 5).

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★ Occupational Asthma (causative agent, Dx investigation)

Scenario: Episodic wheeze and dyspnea worse on workdays + On exam: bilateral wheeze + Investigation shows: improvement in peak expiratory flow (PEF) during weekends >>

• Most Likely Dx: Occupational Asthma

• Most Common Cause: Isocyanates (common in spray painting or foam industries)

• Most Confirmatory Investigation: Serial peak expiratory flow monitoring at work and off-work

• Most Appropriate Next Step: Avoid exposure to the triggering agent

• Most Appropriate Next Intervention: Referral to occupational health for workplace modifications

 

Mnemonic: “I-WORK” for Occupational Asthma:

• Identify causative agent

• Workplace monitoring (PEF)

• Overhaul environment

• Remove Exposure

• Keep follow-up.

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★ Churg-Strauss Syndrome

Scenario: Asthma, sinusitis, and peripheral neuropathy + On exam: palpable purpura and wheeze + Investigation shows: peripheral eosinophilia and positive p-ANCA >>

• Most Likely Dx: Churg-Strauss Syndrome (Eosinophilic Granulomatosis with Polyangiitis)
• Most Common Cause: Autoimmune vasculitis
• Most Confirmatory Investigation: Biopsy of affected tissue showing eosinophilic granulomas
• Most Appropriate Next Step: Initiate corticosteroids (e.g., prednisolone)
• Most Appropriate Next Intervention: Add immunosuppressants (e.g., cyclophosphamide) for severe disease

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★ Bronchial Carcinoid Tumor:

Scenario: Recurrent hemoptysis, cough, and wheezing in a young patient + On exam: localized wheeze + Investigation shows: well-defined central mass on CT and positive octreotide scan >>

• Most Likely Dx: Bronchial carcinoid tumor

• Most Common Cause: Neuroendocrine tumor of the bronchus

• Most Confirmatory Investigation: Bronchoscopy with biopsy and histology

• Most Appropriate Next Step: Assess for metastatic disease with imaging

• Most Appropriate Intervention: Surgical resection (curative)

 

Mnemonic: “C.A.R.”:

• Central mass
• Active neuroendocrine tumor
• Resect surgically

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Hemochromatosis

Scenario: Fatigue, joint pain, and skin pigmentation + On exam: hepatomegaly and bronze skin + Investigation shows: elevated ferritin and transferrin saturation >>

• Most Likely Dx: Hereditary Hemochromatosis
• Most Common Cause: HFE gene mutation (C282Y)
• Most common screening test: For general population: Transferrin saturation, For family member >> Ferittin
• Most Confirmatory Investigation: Liver Biopsy +- Genetic testing
• Most Appropriate Next Step: Start therapeutic phlebotomy

 

Mnemonic: “I.R.O.N.”

• Iron overload
• Reduce with phlebotomy
• Ongoing ferritin monitoring
• Note genetic cause.

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Polycythemia Rubra Vera (PRV)

Scenario: Headache, pruritus after a hot shower, and thrombosis + On exam: facial plethora and splenomegaly + Investigation shows: elevated hemoglobin and positive JAK2 mutation >>

• Most Likely Dx: PRV
• Most Common Cause: JAK2 mutation
• Most Confirmatory Investigation: JAK2 mutation testing
• Most Appropriate Next Step: Start therapeutic phlebotomy
• Most Appropriate Next Intervention: Low-dose aspirin and cytoreductive therapy (e.g., hydroxyurea)

 

Mnemonic: “P.V.”

• Phlebotomy
• Viscosity control with aspirin.

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Acute Myeloid Leukemia (AML, including APML)

Scenario: Fatigue, fever, and bruising + On exam: pallor and petechiae + Investigation shows: blasts on blood film and Auer rods >>

• Most Likely Dx: Acute Myeloid Leukemia (AML)
• Most Common Cause: Chromosomal translocation (e.g., t(15;17) in APML)
• Most Confirmatory Investigation: Bone marrow biopsy
• Most Appropriate Next Step: Induction chemotherapy
• Most Appropriate Intervention: All-trans retinoic acid (ATRA) for APML

 

Mnemonic: “A.P.M.L.”

• Auer rods
• Promyelocytic leukemia (t(15;17))
• Marrow biopsy confirms
• Life-saving ATRA.

• e.

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Klinefelter, Kallman’s, Androgen Insensitivity Syndrome

Klinefelter Syndrome (47,XXY):

• Scenario: Tall male with small testes and gynecomastia + On exam: infertility and low testosterone + Investigation shows: karyotype 47,XXY >>
  • Most Likely Dx: Klinefelter Syndrome
  • Most Common Cause: Extra X chromosome (meiotic nondisjunction)
  • Most Confirmatory Investigation: Karyotype
  • Most Appropriate Next Step: Fertility counseling
  • Most Appropriate Intervention: Testosterone replacement therapy 

Mnemonic: “K.L.I.N.E.”

• Karyotype XXY
• Long stature
• Infertility
• Needs testosterone
• Evaluate gynecomastia.

 

Kallman’s Syndrome:

• Scenario: Delayed puberty with anosmia + On exam: hypogonadism + Investigation shows: low FSH/LH and anosmia >>
  • Most Likely Dx: Kallman Syndrome
  • Most Common Cause: GnRH deficiency with anosmia (KAL1 mutation)
  • Most Confirmatory Investigation: MRI brain (hypoplastic olfactory bulbs) along with karyotyping
  • Most Appropriate Next Step: Hormone replacement (testosterone or estrogen)
  • Most Appropriate Intervention: Fertility treatment if desired

Mnemonic: “K.A.L.”

• Kal1 mutation
• Anosmia
• Low GnRH.

 

Androgen Insensitivity Syndrome (AIS):

• Scenario: Female phenotype with primary amenorrhea and XY karyotype + On exam: breast development, absent uterus + Investigation shows: androgen receptor mutation >>
  • Most Likely Dx: Androgen Insensitivity Syndrome
  • Most Common Cause: Mutation in androgen receptor
  • Most Confirmatory Investigation: Karyotype and AR gene analysis
  • Most Appropriate Next Step: Psychosocial support
  • Most Appropriate Intervention: Gonadectomy after puberty to reduce cancer risk

Mnemonic: “A.I.S.”

• Androgens insensitive
• Internal male gonads, externally female
• Supportive therapy is required.