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. He has been treated with penicillin for recurrent attacks of strep throat over the past 6 months. Upon cardiac auscultation, you hear a loud S1, an opening snap, and a mid-diastolic rumble with pre-systolic accentuation. EKG revealed a right bundle branch block with a left ventricular hypertrophy. Which of the following best describes the diagnosis in this patient?]]
Answer A	AnswerA::LEOPARD syndrome
Answer A Explanation	[[AnswerAExp::Incorrect – 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::Correct – This involves the association of a congenital ASD with an acquired mitral stenosis.
Answer C	AnswerC::Carvajal-Huerta syndrome
Answer C Explanation	[[AnswerCExp::Incorrect – 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::Incorrect – 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::Incorrect – 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::This is a case of a 7 year-old boy with a medical history of unrepaired congenital ASD presenting with cardiac auscultatory findings suggestive of mitral stenosis due to rheumatic fever as a consequence of the repeated attacks of strep throat. The constellation of a congenital ASD with an acquired mitral stenosis is known a Lutembacher's syndrome. The atrial septal defect is usually a specific type called a secundum atrial septal defect. Some cases of iatrogenic Lutembacher’s syndrome have also been reported. Treatment is by percutaneous transcathetar mitral commissurotomy (PTMC) using the Inoue balloon coupled with ASD closure using the Amplatzer atrial septal occluder. Source: Lutembacher’s syndrome http://www.wikidoc.org/index.php/Lutembacher%27s_syndrome Educational Objective: References: ]]
Approved	Approved::Yes
Keyword	WBRKeyword::Lutembacher's syndrome, WBRKeyword::ASD, WBRKeyword::mitral stenosis
Linked Question	Linked::
Order in Linked Questions	LinkedOrder::