Cardiovascular Disorders

A 45-year-old man with no syndromic features has aortic root dilation. Family history reveals multiple relatives with aortic aneurysms or sudden death.

A child with hypertelorism, bifid uvula, and arterial tortuosity is found to have aortic root dilation at age 5. Unlike Marfan syndrome, he does not have lens dislocation.

A tall, thin 18-year-old with arm span exceeding height presents with sudden chest pain. CT reveals aortic root dilation and Type A dissection. Family history reveals his father died suddenly at age 35.

A child with sparse, curly hair, hyperkeratotic skin, and congenital heart disease has distinctive coarse facial features and moderate to severe intellectual disability.

A child with severe feeding difficulties as an infant has coarse facial features, deep palmar creases, and papillomata around the nose and mouth. He has HCM and moderate intellectual disability.

A child with short stature has a webbed neck, pectus excavatum, and low-set posteriorly rotated ears. Echocardiogram reveals pulmonary valve stenosis. He has mild learning difficulties.

A child with multiple café-au-lait macules and dark lentigines covering the trunk has hypertrophic cardiomyopathy on echo, mild hypertelorism, and sensorineural deafness. Pulmonary stenosis was suspected but echo shows obstructive HCM instead.

A child with a secundum ASD is noted to have asymmetric upper limb abnormalities affecting the thumb and radius.

A 12-year-old girl presents with episodes of muscle weakness and cardiac palpitations. ECG shows a prolonged QT interval and prominent U waves. Physical exam reveals micrognathia, hypertelorism, low-set ears, clinodactyly, and short stature.

A 35-year-old man from Southeast Asia is resuscitated after cardiac arrest during sleep. ECG shows characteristic coved ST elevation in V1-V3. Family history reveals a brother who died suddenly in his sleep.

A 10-year-old boy has syncope during a soccer game. Baseline ECG is normal, but exercise stress test induces bidirectional ventricular tachycardia.

A 14-year-old girl faints while swimming at a swim meet. ECG reveals a QTc of 480 ms. Her mother has a history of syncope and takes beta-blockers.

A 25-year-old athlete has palpitations and sustained VT with LBBB morphology. MRI reveals RV dilation with fatty infiltration and wall motion abnormalities. Family history reveals a cousin who died suddenly.

A 45-year-old man presents with progressive heart failure symptoms. Echo reveals dilated LV with reduced ejection fraction of 25%. His brother died of heart failure at age 50.

A 16-year-old athlete collapses during basketball practice and cannot be resuscitated. Autopsy reveals asymmetric septal hypertrophy. Family screening reveals his father has a thickened septum on echo.

A 60-year-old with heart failure has preserved ejection fraction but severe diastolic dysfunction. Biopsy reveals amyloid deposits. Genetic testing confirms hereditary transthyretin amyloidosis.

A 55-year-old man with peripheral neuropathy and autonomic dysfunction develops heart failure. His father had similar symptoms and died in his 60s. Genetic testing reveals a _TTR_ mutation.

A patient with recurrent epistaxis has mucocutaneous telangiectasias on lips and fingers. CT reveals pulmonary AVMs.

A 30-year-old woman presents with progressive dyspnea on exertion, exertional syncope, and lower-extremity edema. Right heart catheterization confirms pre-capillary pulmonary hypertension (mPAP 45 mmHg, PVR 8 WU, PAWP 10 mmHg). Family history reveals a paternal uncle who died young of "heart failure" and a paternal cousin diagnosed with pulmonary hypertension in her 20s.