Hereditary Quiz Patient with tall and slender build presents with tearing substernal chest pain that radiates to back with BP of 180/98 mm Hg in right arm and 104/65 mmHg in left arm. What would you expect in this patient based on the clinical presentation? A.History of cardiac surgeryB.History of smokingC.High arched palateD.History of intravenous drug abuse This patient has dark pigmentation in his eyes and cartilage as seen in the images below. Also has a history of darkening of urine on standing. What is the diagnosis? A.Xeroderma pigmentosumB.Neurofibromatosis type 1C.Hereditary AlkaptonuriaD.Phenylketonuria This patient with hyper mobile joints and hyper extensible skin finding due to a collagen defect. What is the diagnosis? A.Marfan's syndromeB.Ehlers danlos syndromeC.Hereditary alkaptonuriaD.Scurvy This man and his brother developed heart failure as young adults. What is the likely cause of their heart failure? A.Coarctation of the aortaB.Familial dilated cardiomyopathyC.Friedreich ataxiaD.Becker muscular dystrophy This patient shown in the image presented to the clinic with multiple firm, slow-growing nodules on the tongue and was found to have an elevated calcitonin level. He is tall, slender built and has increased arm span. What is the diagnosis? A.Marfan's syndromeB.Ehlers-Danlos SyndromeC.Hereditary Hemorrhagic TelangiectasiaD.MEN2B The patient shown in the image below complains of recurrent episodes of epistaxis. On further investigation she is found to have GI bleeding as well. What could be the diagnosis? A.NeurofibromatosisB.Multiple Endocrine NeoplasiaC.Hereditary Hemorrhagic TelangiectasiaD.Tuberous Sclerosis What additional finding might be present in this patient? A.Pectus excavatumB.High-arched palateC.A decrescendo diastolic murmurD.High-arched palateE.All of the above What finding is demonstrated in the image? A.SclerodactylyB.Interosseous muscle wastingC.BrachydactylyD.Arachnodactyly What is the most likely diagnosis? A.Lofgren’s syndromeB.Marfan’s syndromeC.Down’s syndromeD.Angelman’s syndrome What additional finding might be expected in this patient? A.Pectus excavatumB.SclerodactylyC.A rumbling diastolic murmur with presystolic accentuationD.All of the above What physical finding is demonstrated in this image? A.HyperextensibilityB.Steinberg signC.Walker-Murdoch sign What valvular heart disease might you expect in this patient? A.Mitral stenosisB.Tricuspid regurgitationC.Pulmonary stenosisD.Aortic regurgitation Which of the following ocular conditions might be present in this patient? A.Ectopia lentisB.GlaucomaC.UveitisD.Retinal detachment Which of the following murmurs might be heard in this patient? A.A mid-systolic click, followed by a late systolic murmur heard best at the apexB.An opening snap, followed by diastolic murmur heard best at apexC.Systolic ejection murmur heard best at right upper sternal borderD.Holosystolic murmur heard best at left lower sternal border Which of the following MEN syndromes is associated with these physical findings? A.MEN1B.MEN2AC.MEN2BD.MEN4 Which of the following thyroid cancers might occur in this patient? A.Papillary thyroid cancerB.Follicular neoplasm of thyroidC.Medullary thyroid cancerD.Anaplastic thyroid cancer What is the inheritance of the disease in this patient? A.Autosomal recessiveB.Autosomal dominantC.X linked recessiveD.X linked dominant This patient has small, yellowish, popular lesions present on the neck. Which of the following is the most likely diagnosis? A.Calcinosis cutisB.ElastodermaC.Pseudoxanthoma elasticumD.Tuberous xanthomas This patient has small, yellowish, popular lesions present on the neck. Which of the following eye changes would be present? A.Age related macular degenerationB.Retinal hemorrhageC.Vitreous hemorrhageD.Optic neuritis What physical finding is demonstrated in these images? A.HyperextensibilityB.ArachnodactylyC.Fingerization of thumbD.Boutonniere deformity Which of the following valvular heart diseases is expected in this patient? A.Aortic stenosisB.Tricuspid regurgitationC.Pulmonary stenosisD.Mitral regurgitation This patient presents to the clinic with many non-painful skin lesions over his whole body. Which ocular finding might be expected? A.Keyser-Flesicher ringsB.Lisch’s nodulesC.Heterochromia iridisD.Coloboma This patient had renal cancer at a young age. Assuming that the right side of the patient’s body is normal, what would be the most likely diagnosis? A.Von-Hippel-Lindau’s diseaseB.Dennys Drash syndromeC.Beckewith-Weideman syndromeD.WAGR syndrome Which of the following metabolic abnormalities is common in these patients? A.HypocalcemiaB.HypomagnesemiaC.HypochloremiaD.Hypoglycemia A patient’s urine gets darkened when left exposed to open air. What is the most likely diagnosis? A.PorphyriaB.AlkaptonuriaC.PhenylketonuriaD.Refsum’s disease A patient’s urine is kept in open air for 30 minutes, and is imaged as above. This patient is likely to develop which complication later in life? A.PancreatitisB.ScoliosisC.OsteoarthritisD.Interstitial lung disease This patient came to clinic with asymptomatic ill-defined dark patches as shown. Which of the following bedside tests can be used to confirm the diagnosis of ochronosis? A.Urine dipstickB.Ferric chloride testC.Toluidine blue testD.Expose urine to air This patient came to clinic with asymptomatic ill-defined dark patches as shown. Which of the following cardiac conditions might be expected? A.Myxomatous degenerationB.Valvular calcificationC.PericarditisD.Myocardial infarction Loading... Share this: Share on Facebook (Opens in new window) Facebook Share on X (Opens in new window) X