Rationale: BMPR2 mutation is the most common cause of heritable pulmonary arterial hypertension (HPAH), but rare in hereditary hemorrhagic telangiectasia (HHT). ACVRL1 , ENG and SMAD4 are the most common gene mutations reported in HPAH with HHT. Patient concerns: We report a 11-year-old boy with a definite diagnosis of pulmonary hypertension and suspected HHT with recurrent epistaxis. The results of gene detection showed that there was a nosense mutation in BMPR2 . The results of gene detection of ACVRL1, ENG and SMAD4 were normal. Diagnoses: Heritable pulmonary arterial hypertension with suspected hereditary hemorrhagic telangiectasia. Interventions: Patient was treated with ambrisentan 2.5 mg qd. About a month later, the patient developed massive gastrointestinal bleeding and sudden convulsions. The patient's vital signs were stable after symptomatic treatment. Outcomes: After discharging from hospital, the patients continued to take ambrisentan. No epistaxis or gastrointestinal bleeding was found in one month of follow-up, but the symptoms of chest tightness were not significantly alleviated. Lessons: BMPR2 with a nonsense mutation is more likely to cause HPAH with HHT and are more likely to be life-threatening.
Rationale: Amiodarone, a broad-spectrum antiarrhythmic drug, is widely used for the clinical treatment of tachyarrhythmias because of its safety and efficacy. Patient concerns: A 30-year-old woman presented with known paroxysmal atrial tachycardia and severe preeclampsia. Two days before admission, she had given birth to twins. She described her symptoms as a sudden palpitation at 10:20 accompanied by chest tightness and shortness of breath. Diagnosis: Cardiac arrhythmia and acute left heart failure. Interventions: Furosemide and sodium nitroprusside were administered to control the heart failure. At 16:20, 150 mg amiodarone (15 mg/min) was injected intravenously and continued at 1 mg/min. At 16:50, her electrocardiogram showed possible atrial tachycardia or atrial flutter with a ventricular rate of 206 beats/min. Administration of amiodarone was stopped at 17:23, and the medication was changed to esmolol. Outcomes: After 3 minutes, the palpitations stopped, the heart rate changed to a sinus rhythm, and the ventricular rate was 100 beats/min. Four days later, the patient underwent an electrophysiologic study and radiofrequency ablation. Lessons: When amiodarone is used to treat atrial arrhythmia, the ventricular rate may accelerate, which can cause patients with borderline heart failure to develop acute heart failure or further deterioration of acute heart failure. For heart failure induced or mediated by atrial arrhythmias, short-term β-blockers may be used to control the ventricular rate more quickly and effectively and to prevent the progression of heart failure.
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