A Noonan Syndrome Mimicking Acute Coronary Syndrome

Area of Science:

• Genetics and Cardiology
• Rare Genetic Disorders
• Cardiovascular Manifestations

Background:

• Noonan syndrome presents with diverse clinical features, complicating diagnosis.
• Cardiac symptoms, like chest pain and ST-segment elevation, can be misleading.
• Early and accurate diagnosis is crucial for managing Noonan syndrome.

Purpose of the Study:

• To present a case of Noonan syndrome diagnosed in adulthood.
• To illustrate the diagnostic challenges posed by atypical cardiac presentations.
• To emphasize the role of physical examination and advanced imaging.

Main Methods:

• Case report of a 29-year-old male with chest pain.
• Diagnostic workup included coronary angiography, physical examination, echocardiography, cardiac MRI, and genetic testing.
• Genetic analysis focused on identifying variants in genes associated with Noonan syndrome, notably PTPN11.

Main Results:

• Coronary angiography showed coronary ectasia but ruled out acute coronary syndrome.
• Physical exam revealed pulmonary murmur, pectus excavatum, and café-au-lait spots.
• Echocardiography and cardiac MRI identified localized left ventricular hypertrophy; genetic testing confirmed a PTPN11 variant, diagnosing Noonan syndrome.

Conclusions:

• This case underscores that Noonan syndrome can present with cardiac symptoms mimicking other conditions.
• A comprehensive approach combining detailed physical assessment and multimodal cardiac imaging is vital for diagnosing Noonan syndrome.
• PTPN11 gene variants are a common cause of Noonan syndrome, necessitating genetic confirmation.