WBR0483
| Author | [[PageAuthor::Ayokunle Olubaniyi, M.B,B.S [1] (Reviewed by Alison Leibowitz)]] |
|---|---|
| Exam Type | ExamType::USMLE Step 1 |
| Main Category | MainCategory::Pathology |
| Sub Category | SubCategory::Cardiology |
| Prompt | [[Prompt::A 7-year-old male with a past medical history of congenital atrial septal defect presents to the ER with complaints of respiratory distress and chest pain of 2 weeks duration. Over the past 6 months he has been treated with penicillin for recurrent attacks of strep throat. Upon cardiac auscultation, you hear a loud S1, an opening snap, and a mid-diastolic rumble with pre-systolic accentuation. An electrocardiograph (EKG) reveals a right bundle branch block with a left ventricular hypertrophy.
Which of the following is the most likely diagnosis for this patient?]] |
| Answer A | AnswerA::LEOPARD syndrome |
| Answer A Explanation | [[AnswerAExp::LEOPARD syndrome is a rare autosomal dominant, multisystemic disease most commonly caused by a mutation in the PTPN11 gene. This disorder is named as an acronym alluding to the cardinal features: Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness.]] |
| Answer B | AnswerB::Lutembacher’s syndrome |
| Answer B Explanation | AnswerBExp::This involves the association of a congenital ASD with an acquired mitral stenosis. |
| Answer C | AnswerC::Carvajal-Huerta syndrome |
| Answer C Explanation | [[AnswerCExp::Carvajal-Huerta syndrome is an autosomal recessive condition caused by a defect in desmoplakin. Common features associated with the disease are striate palmoplantar keratoderma, woolly hair, and left ventricular dilated cardiomyopathy.]] |
| Answer D | AnswerD::Hand-Schüller-Christian syndrome |
| Answer D Explanation | [[AnswerDExp::Hand–Schüller–Christian disease is often associated with multifocal Langerhans cell histiocytosis. Features include a triad of exophthalmos, lytic bone lesions (often in the cranium), and diabetes insipidus.]] |
| Answer E | AnswerE::Yunis-Varon syndrome |
| Answer E Explanation | [[AnswerEExp::Yunis-Varon syndrome (YVS) is an extremely rare autosomal recessive, multisystem congenital disorder that impacts the skeletal system, ectodermal tissue, and neurologic system. Common features associated with YVS include growth retardation, bone anomalies, and neurological abnormalities.]] |
| Right Answer | RightAnswer::B |
| Explanation | [[Explanation::The patient in this scenario presents with cardiac auscultatory findings suggestive of mitral stenosis (MS) due to rheumatic fever as a consequence of the repeated attacks of strep throat in conjunction with his medical history of unrepaired congenital atrial septal defect (ASD). The key auscultation findings indicative of MS include a loud S1, an opening snap, and a mid-diastolic rumbling most audible at the apical region, which may be associated with murmurs of pulmonary regurgitation (Graham-Steell murmur). Ostium secundum ASD combined with an acquired mitral stenosis is referred to as Lutembacher's syndrome. Educational Objective: Ostium secundum ASD combined with an acquired mitral stenosis is referred to as Lutembacher's syndrome. |
| Approved | Approved::Yes |
| Keyword | WBRKeyword::Lutembacher's syndrome, WBRKeyword::ASD, WBRKeyword::mitral stenosis |
| Linked Question | Linked:: |
| Order in Linked Questions | LinkedOrder:: |