WBR0483

Author	[[PageAuthor::Ayokunle Olubaniyi, M.B,B.S [1]]]
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::In LEOPARD syndrome is a rare autosomal dominant, multisystemic disease caused by a mutation in the protein tyrosine phosphatase non-receptor type 11 gene. It primarily affects the skin, skeletal muscles and the cardiovascular system. The characteristic feature associated with the condition is presence of brown skin spots called lentigines.]]
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::This is an autosomal recessive condition due to a defect in desmoplakin. Features include: striate palmoplantar keratoderma, woolly hair, and left ventricular dilated cardiomyopathy.]]
Answer D	AnswerD::Hand-Schuller-Christian syndrome
Answer D Explanation	[[AnswerDExp::Hand–Schüller–Christian disease is associated with multifocal Langerhans cell histiocytosis. Features include a triad of exophthalmos, lytic bone lesions (often in the skull), 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 which affects the skeletal system, ectodermal tissue and cardiorespiratory systems. Features include: growth retardation, bone abnormalities, respiratory problems.]]
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::