Objective: Von Hippel-Lindau syndrome (VHL), a rarely inherited disease with autosomal-dominant transmission, can be characterized by pheochromocytoma complicated with various clinical manifestations, such as paroxysmal hypertension, myocardial infarction, arrhythmia, and heart failure. The related case reports are rare, especially referring to myocardial infarction. However, it is important to obtain such a clinical case, since it may facilitate diagnose by utilization of genetic testing and prognosis by early surgical treatment. Design and method: A 53-year-old male patient presented with recurrent and progressive chest pain, hypertension, sweating and palpitation, associated with significant 15-year history of hypertension. Although these symptoms persisted 8 months, he did not receive any treatment before first hospitalization. Transthoracic echocardiography revealed left ventricular enlargement, left ventricular wall thickening, and the decrease of ejection fraction. Blood tests showed significant troponin I, catecholamine, and 24 hours urinary vanilla mantellic acid. ECG showed sinus tachycardia with ischemic changes. Besides, abdominal computed tomography scan revealed a tumor of 5.3 cm in diameter in the right adrenal gland. Thus, the patient was required to remove the tumor after 6 months. However, he hospitalized again due to those deteriorating symptoms. Coronary angiography revealed the left anterior descending stenosis 70%. Then he was admitted to intensive care unit and died of cardiogenic shock. Results: A diagnosis of this VHL syndrome was finally confirmed by genetic pedigree of the family and genetic testing. Gene tests showed that the patient and his daughter carried VHL gene c.G250C heterozygous missense mutation (VHL: p.V84L het), but the elder son without mutation in the same site. VHL type 2C, a subtype of VHL, is characterized by presenting as pheochromocytoma complicated with myocardial damage, myocardial infarction and heart failure. Conclusions: Test of the VHL gene mutation is necessary for the patients presenting as pheochromocytoma with myocardial infarction and their asymptomatic family members. Moreover, early surgical excision of pheochromocytoma may improve the prognosis of this disease.