A 5-month-old male infant is brought to your clinic for a follow-up appointment. Mother reports that the boy has had several viral and fungal infections since his birth and she has noticed that he often is stiff and rigid. On examination you notice the boy has a small jaw, cleft palate, hypertelorism, slanting palpebral fissures, and short philtrum. When you tap on his facial nerve, you notice twitching of the facial muscles. Laboratory testing demonstrates hypocalcemia, decreased levels of parathyroid hormone, and absence of serum T cells. Chest x ray is significant for the absence of thymic shadow. Fluorescence in situ hybridization (FISH) study reveals a microdeletion of chromosome 22 at the 22q11.2 locus. Of the following, which is most likely observed in babies with this disorder?
A 20 year-old male presents to your primary care office complaining of dyspnea on exertion, chest pain, and palpitations. On physical examination, you find cyanosis and clubbing in his left upper extremity and both lower extremities. You suspect patent ductus arteriosus in this patient. What type of murmur would you expect to hear in this patient?
A 2-day-old male neonate presents to the emergency department with increasing cyanosis and difficulty breathing. The baby was born at term via vaginal delivery with no complications during pregnancy or birth. The Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. On day 2 of life, the parents noticed the baby turning blue during feeding and being less active. The family denies any history of congenital heart disease. On physical examination, the baby appears cyanotic with oxygen saturation of 78% on room air. There is a systolic murmur best heard at the left sternal border and diminished peripheral pulses. The neonate’s respiratory rate is 70 breaths/min, and he shows signs of poor perfusion with cool extremities. Initial workup includes a chest X-ray showing cardiomegaly and reduced pulmonary vascular markings. An echocardiogram reveals severe coarctation of the aorta, a ductal-dependent cardiac lesion where systemic blood flow relies on a patent ductus arteriosus (PDA) to bypass the narrowing in the aortic arch. Which of the following medications is used to keep the ductus arteriosus patent and can be life-saving in neonates with ductal dependent cardiac lesions?
A mother brought her 8 month-old baby to the emergency room because the baby appears to be having trouble breathing. He is also not gaining weight as he should, gets frequent respiratory infections, gets short of breath and becomes sweaty when crying or playing. Upon further enquiry, the mother reports that she took some medications during her pregnancy with this child, ‘a vitamin pill’ ‘an energy pill’ and ‘some other pill’ her father-in-law gave her, which helped him a lot. She is not able to recollect its name. On physical examination of the baby, a continuous “machinelike” murmur is heard and you note signs of pulmonary congestion. Of the following, this mother probably took which medication, that caused a congenital heart disorder in this baby?
A 65-year-old man presents to the clinic with complaints of fatigue and exertional breathlessness for the past few months. He also reports occasional palpitations and a sensation of “pounding” in his chest. On examination, his blood pressure is 160/60 mmHg, with a wide pulse pressure. Which of the following conditions is associated with a wide pulse pressure?
