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: References: Lutembacher’s syndrome]]
Approved	Approved::Yes
Keyword	WBRKeyword::Lutembacher's syndrome, WBRKeyword::ASD, WBRKeyword::mitral stenosis
Linked Question	Linked::
Order in Linked Questions	LinkedOrder::