WBR0483

Author	[[PageAuthor::Ayokunle Olubaniyi, M.B,B.S [1] (Reviewed by Alison Leibowitz [2] and Yazan Daaboul, M.D.)]]
Exam Type	ExamType::USMLE Step 1
Main Category	MainCategory::Pathology
Sub Category	SubCategory::Cardiology
Prompt	[[Prompt::A 58-year-old woman with a past medical history of congenital atrial septal defect is brought to the emergency department with complaints of bilateral, pitting, lower extremity edema of 2 weeks duration. Cardiac examination is remarkable for a loud S1, an opening snap, a wide, fixed-split pulmonary S2, and a III/VI mid-diastolic rumble with pre-systolic accentuation. Also, An ECG demonstrates a right bundle branch block with left atrial enlargement. What is the most likely diagnosis of this patient?]]
Answer A	AnswerA::LEOPARD syndrome
Answer A Explanation	[[AnswerAExp::LEOPARD syndrome is a rare autosomal dominant, multisystemic disease that is 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::Lutembacher’s syndrome refers to the combination of congenital ASD and acquired mitral stenosis.]]
Answer C	AnswerC::Carvajal-Huerta syndrome
Answer C Explanation	[[AnswerCExp::Carvajal-Huerta syndrome is an autosomal recessive disorder 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 observed 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 congenital disorder that involves 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::Lutembacher's syndrome (LS) is a rare disease that refers to a congenital atrial septal defect (ASD) that is complicated by an acquired mitral stenosis. The key auscultation findings indicative of mitral stenosis include a loud S1, an opening snap, and a mid-diastolic rumbling most audible at the apical mitral region, which may be associated with murmurs of pulmonary regurgitation (Graham-Steell murmur). On the other hand, the key auscultation finding indicative of ASD is a wide fixed split pulmonary S2. Notably in LS, backward flow to the pulmonary veins is not significant since blood flows from the high-pressure left atrium to the right atrium through the ASD. However, the increased strain on the right ventricle eventually results in right ventricular failure and signs of right heart failure, such as lower extremity edema. Although the presence of ASD may ameliorate or delay the negative effects of mitral stenosis, LS is still associated with significant co-morbidities such as atrial fibrillation and right ventricular failure. Surgical intervention (ASD closure and mitral valve repair) is the optimal management option for patients with LS and provides, and prognosis is generally good when surgical repair is performed early in the disease course before the development of heart failure and pulmonary hypertension. Educational Objective: Lutembacher’s syndrome is a rare disease that refers to the combination of congenital ASD and acquired mitral stenosis. References: Kulkarni SS, Sakaria AK, et al. Lutembacher's syndrome. J Cardiovasc Dis Res. 2012 Apr-Jun; 3(2): 179–181. ]]
Approved	Approved::Yes
Keyword	WBRKeyword::Lutembacher's syndrome, WBRKeyword::ASD, WBRKeyword::Mitral stenosis, WBRKeyword::Cardiac auscultation, WBRKeyword::Atrial septal defect
Linked Question	Linked::
Order in Linked Questions	LinkedOrder::