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History: A 65 year old male with HTN presented to the ED with a 1-week history of progressive SOB. On physical examination, BP 140/62 mm Hg, HR 120 bpm, RR 30, and SP02 92% on 3L of O2 by nasal cannula. The cardiac examination was notable for a crescendo–decrescendo systolic murmur and a decrescendo diastolic murmur. The ophthalmologic examination revealed dilation and constriction of the pupils, synchronized with the patient’s heartbeat. What’s the diagnosis?

Answer: Landolfi’s sign is seen in patients with severe aortic regurgitation and is a manifestation of wide pulse pressure and large stroke volume in the iridial vessels, which causes systolic constriction and diastolic dilation of the pupils. Transthoracic echocardiography revealed severe aortic regurgitation with dilatation of the ascending aorta and a dissection flap. CT scan of the aorta showed a Stanford type A aortic dissection. The patient underwent the replacement of his ascending aorta and aortic valve (Bentall procedure). On discharge 10 days later, Landolfi’s sign was no longer present.

Reference: NEJM

Clinical Rounds by ClinicHours

History: A 33-year-old man presented to the ED with low-grade fever for 3 weeks, vomiting for 1 week and anuria for 3 days. He also reported dysuria and breathlessness for 1 week. There was no history of decreased urine output, dialysis, effort intolerance, chest pain or palpitation, dyspnoea and weight loss. Family history included smoky urine in his younger brother in his childhood. Severe pallor was present with mild pedal oedema. BP 180/100 mm Hg and P 116/min regular. No evidence of jaundice, clubbing cyanosis or lymphadenopathy was found. Physical examination revealed bibasilar end-inspiratory crepitations in lungs and suprapubic tenderness. There was no hepatosplenomegaly or ascites. Cardiac examination was normal. He was found to have severe bilateral hearing loss, which was gradually progressive for 5 years. Slit-lamp examination showed bilateral anterior lentiglobus with posterior lenticonus. What’s the diagnosis?

Answer: Alport syndrome is caused by mutations in COL4A3, COL4A4, and COL4A5, three of six human genes involved in basement membrane (type IV) collagen biosynthesis.

Signs & symptoms: Hereditary nephritis, sensorineural hearing loss, retinopathy, anterior lenticonus.

Diagnosis: At least 4 of the following 10 criteria should be fulfilled:

1. A family history of nephritis in a first-degree relative male linked to the index case.
2. A history of persistent haematuria.
3. Bilateral SNHL involving higher frequencies.
4. Widespread GBM ultrastructural abnormalities.
5. Ocular findings such as anterior lenticonus and retinal flecks.
6. Mutation in COL4A gene.
7. Immunohistochemical evidence of partial or complete loss of Alport epitope.
8. Gradual progression to ESRD in at least relatives of index case.
9. Macrothrombocytopenia.
10. Diffuse leiomyomatosis.

Differential diagnosis: Thin basement membrane disease (TBMD), Mesangial IgA nephropathy, Drug-induced renal and ototoxicity (eg, aminoglycosides), Branchio-otorenal syndrome.

Treatment: ACE inhibitors, dialysis or transplantation.

Clinical Rounds by ClinicHours

History: An infant presented in ER with respiratory distress & cyanosis. Examination shows clubbing, single S2, and ejection systolic murmur best heard in the pulmonary area. What is the most likely diagnosis?

Answer: Tetralogy of Fallot (TOF) is caused by the anterosuperior displacement of the infundibular septum. Most common cause of early childhood cyanosis.

Components: PROVe

• Pulmonary infundibular stenosis (most important determinant for prognosis)
• Right ventricular hypertrophy (RVH)—boot-shaped heart on CXR
• Overriding aorta
• VSD

Mechanism: Pulmonary stenosis forces right-to-left flow across VSD →RVH, “tet spells” (often caused by crying, fever, and exercise due to exacerbation of RV outflow obstruction).

Cause: Associated with 22q11 syndromes.

Diagnosis: CXR, ECG, Echocardiography

Treatment: Total surgical repair (The repair consists of two main steps: closure of the VSD with a patch and reconstruction of the right ventricular outflow tract). Squatting: ↑SVR, ↓right-to-left shunt, improves cyanosis.

Clinical Rounds by ClinicHours

History: A 60 year old woman nursing home patient with Type2DM, HTN, and a prior haemorrhagic stroke presented to ED with progressive dyspnoea, cough with white sputum and low-grade temperature. On arrival, the patient was tachypnoeic, using accessory muscles and oxygen desaturation was noted. Physical examination showed no jugular vein engorgement, trachea was not deviated and auscultations revealed bilateral equal breath sounds with bi-basilar rales. Despite supplemental oxygen, the patient required intubation and was admitted to ICU. However, in the ICU, the patient’s saturation continued to fluctuate despite varying ventilation settings. What is the most likely cause of respiratory failure in the patient?

1. Pulmonary oedema

2. Pneumonia

3. Pneumothorax

4. Foreign body aspiration

Answer: The foreign body in the right bronchus. The foreign body was later found to be a suction tube used by the nursing home, which was suspected to have broken off at some point for unknown reason.

The ABCDEFGHI mnemonic is very useful: A stands for assessment of quality and airway. The X-ray here was a supine AP view, with poor inspiration of only six posterior rib visible, and reviewing the airway, there was no tracheal deviation, the endotracheal tube was in place but a suspicious object could be seen in the right bronchus. The rest of the mnemonic would be: B for bones and soft tissue (no bone fractures and no subcutaneous air). C for cardiac silhouette, D for diaphragm, E for effusion, F for fields, fissure and foreign body, (pneumonia, pulmonary oedema and pneumothorax) are not seen but there are three foreign bodies: the endotracheal tube, VP shunt and again, one in the right bronchus, G for gastric bubble and great vessels, H for hila and mediastinum and lastly I for impression. Using this standardised approach, we would have a greater chance of identifying the foreign body and thus provide more timely management for the patient.

Reference: BMJ

Clinical Rounds by ClinicHours