先证者(V_2)女性、13岁,因发热咳嗽半个月,心悸、全身浮肿、头晕、纳差、乏力1周入院。体检:T37.2℃、P120次、R29次、Bp90/50。面色苍白,口唇发绀,颜面轻度浮肿,颈静脉无怒张;心尖搏动在左第5肋间锁骨中线外3.5cm,心界向左下扩大,心率120次,律齐,心尖区第一心音低钝,未闻杂音,两肺呼吸音粗糙。腹平软,肝肋下4cm,轻压痛,腹水征阴性。两下肢凹陷性水肿,住院3个月临床症状未见改善,X 线示心脏进行性增大。血像、生化及免疫学检查尚属正常范围。X线示肺纹理增粗、模糊,心界扩大,心胸比率为0.62。A 型超声波示肝肋下3cm,为稀疏微波。心电图示左室外膜高电压,部分 T 波改变。超声心动图示左心扩大,室隔和左室后壁活动度降低,收缩期厚度不增加.家系调查见附图,V_3已死亡,其余3例均符合充血性心肌病。讨论根据林琦等提出的6条诊断标准(中华 Probability (V_2) female, 13 years old, cough for fever for half a month, palpitations, generalized edema, dizziness, anorexia, fatigue 1 week admission. Physical examination: T37.2 ℃, P120 times, R29 times, Bp90 / 50. Pale, lips cyanosis, face mild edema, jugular vein without ankle; apical beating in the left 5 intercostal clavicle midline 3.5cm, left heart to expand the heart, the heart rate 120 times, law Qi, the first heart area apex Low blunt, unheard noise, rough breathing sounds of both lungs. Abdomen soft, liver ribs 4cm, mild tenderness, ascites sign negative. Two lower limb depression edema, hospital 3 months no improvement in clinical symptoms, X-ray showed heart progressive increase. Blood, biochemical and immunological tests are still within the normal range. X-ray showed thickening of the lungs, blurred, expanding heart, cardiothoracic ratio of 0.62. A-type ultrasound showed liver ribs 3cm, sparse microwave. ECG left ventricular hypertrophy, T wave changes. Echocardiography showed left ventricular enlargement, septum and left ventricular posterior wall activity decreased, systolic thickness does not increase.Familial survey see the attached figure, V_3 has died, and the remaining three cases are congestive cardiomyopathy. Discussion According to Lin Qi and other six proposed diagnostic criteria (China