Diagnostic Pointers in Cardiology - Face
Author: Dr. Subrahmanyam Karuturi, MD
| Diagnostic Pointers | Diagnosis | Associated Cardiac Diagnosis |
| Saddle shaped nose | Relapsing Polychondritis | Aortic Aneurysms |
| Flushed cheeks and cyanotic lips | Acrocyanosis | Mitral Stenosis |
| Gargoylism | Hurler's Syndrome | Mitral and/or Aortic disease |
| Diagonal earlobe crease | Frank sign or earlobe sign | Coronary Artery Disease |
| Paroxysmal flushing of face and neck | Carcinoid Syndrome | Pulmonic Stenosis, Tricuspid Stenosis/Regurgitation |
| Tightening of skin and mouth, hyperpigmentation/hypopigmentation, telangiectasias | Systemic Sclerosis | Pulmonary Hypertension, Pericarditis, Myocarditis |
| Short palpebral fissures, hypoplastic mandible, small upper lip | Fetal Alcohol Syndrome | ASD or VSD |
| Drooping eyelids, receding hairline, bilateral cataracts, expressionless face | Myotonic Dystrophy | Conduction Disorders, Mitral Valve Prolapse |
| Macroglossia | Amyloidosis | Restrictive Cardiomyopathy, Congestive Heart Failure |
| Loss of lateral eyebrows, dry and brittle hair, puffy eyelids, apathetic face, protruding tongue, thick skin | Myxedema | Pericardial Disease, Coronary Artery Disease |
| Protruding tongue, epicanthic fold, small ears, short nose, flat bridge | Down Syndrome | Endocardial Cushion Defects |
| Unilateral lower facial weakness of infants, often noticeable only during crying | Cardiofacial Syndrome | Congenital Heart Disease usually VSD |
| Premature aging | Werner's Syndrome/Progeria | Premature Coronary Artery and Systemic Atherosclerotic Disease |
| Elfin face - small chin, malformed teeth, wide-set eyes, baggy cheeks, patulous lips, blunt and upturned nose | William's Syndrome | Pulmonary Stenosis, Supravalvular Aortic Stenosis |
| Round and chubby face | Congenital Valvular Pulmonic Stenosis | |
| Webbed neck, low set ears, pigmented moles, hypertelorism | Turner's Syndrome | Hypoplastic left heart , Coarctation of the Aorta, Bicuspid Aortic Valve, Aortic Dissection, Hypertension |
| Pulsatility of earlobes | Tricuspid Regurgitation | |
| Head bobbing | De Musset's Sign | Aortic Regurgitation |
Diagnostic Pointers in Cardiology
