Cardiology Unit, Department of Medicine, University of Ibadan, Nigeria. E-mail:
Cardiology Unit, Department of Medicine, University College Hospital Ibadan, Nigeria.
West Afr J Med. 2024 Jul 30;41(7):826-830.
Cardiac disorders are found in about half of cases of Noonan syndrome (NS). The most common congenital heart diseases in this syndrome include pulmonary valvular stenosis obstructive or nonobstructive hypertrophic cardiomyopathy (17%). Biventricular hypertrophic cardiomyopathy (HCM) is very rare in this condition.
The objective is to report a case of biventricular hypertrophic cardiomyopathy in a 26-year-old Nigerian female with the phenotype.
This is a descriptive case report.
The patient presented with dyspnoea on exertion which started at the age of 7 years and has progressively worsened. There was associated precordial chest pain and palpitation. Clinical examination revealed a young woman, who is small for her age. She had some dysmorphic features such as a webbed neck, lowset ears, low posterior hairline, crowded teeth, high arched palate, a small and asymmetric chin and a high carrying angle at the elbows. The pulses were synchronous and there was no radio-radial or radiofemoral delay and her blood pressures were within normal limits. Cardiac auscultation was unremarkable. The 12-lead ECG showed biventricular hypertrophy with a strain pattern. The echocardiogram showed features in keeping with biventricular hypertrophic cardiomyopathy.
Biventricular HCM is relatively uncommon in Noonan syndrome. Patients with typical dysmorphia should have a full cardiac evaluation to look for these anomalies.
心脏疾病在诺南综合征（Noonan syndrome，NS）患者中约占一半。该综合征中最常见的先天性心脏病包括肺动脉瓣狭窄（阻塞性或非阻塞性）和肥厚型心肌病（17%）。在这种情况下，双心室肥厚型心肌病（biventricular hypertrophic cardiomyopathy，HCM）非常罕见。
报告一例具有表型的 26 岁尼日利亚女性的双心室肥厚型心肌病病例。
这是一个描述性病例报告。
患者表现为劳力性呼吸困难，起始于 7 岁时，且逐渐加重。伴有心前区胸痛和心悸。临床检查发现患者为年轻女性，身材矮小。她存在一些畸形特征，如颈蹼、低位耳、低位后发际线、牙齿拥挤、高拱形腭、小而不对称的下巴和肘部高携带角。脉搏同步，无桡动脉-尺动脉或桡动脉-股动脉延迟，血压在正常范围内。心脏听诊无异常。12 导联心电图显示双心室肥厚伴应变模式。超声心动图显示符合双心室肥厚型心肌病的特征。
双心室 HCM 在诺南综合征中相对少见。具有典型畸形的患者应进行全面的心脏评估，以寻找这些异常。
