Misdiagnosed Condition: From Pulmonary Hypertension to Congenital Heart Anomaly
I have been mistakenly diagnosed with pulmonary hypertension, but it turns out I actually have a congenital heart defect. I would really appreciate some advice on this matter. As a 27-year-old woman living with cystic fibrosis and currently pregnant at five months, I’ve never experienced any heart-related issues throughout my life. The condition was discovered inadvertently during an echocardiogram. My pulmonologist initially claimed it was pulmonary hypertension, but upon consulting a specialist in that field, he clarified that it’s a congenital issue. I would value some insights regarding the findings from my echocardiogram. I maintain a healthy lifestyle, not partaking in smoking or alcohol, and my measurements are 5’11” and 205 lbs. Here are the findings: 1. Cardiac chambers are of normal size, and there’s satisfactory biventricular systolic function, with a left ventricular ejection fraction (LVEF) between 60-65%. 2. Mild valvular dysfunction is noted but nothing more significant. 3. The size of the inferior vena cava is normal, indicating the right atrial pressure is also normal. 4. There are signs suggestive of borderline pulmonary hypertension, with an estimated right ventricular systolic pressure of 34 mmHg. 5. A bubble study indicates considerable right-to-left shunting, likely at the atrial level, but it’s impossible to rule out the presence of a pulmonary shunt as well. Left Ventricle: The left ventricle appears to have normal dimensions and function with an ejection fraction of 60-65%. Results for diastolic function could not be acquired owing to sinus tachycardia, resulting in E/A fusion. No abnormalities in regional wall motion were detected. Right Ventricle: The right ventricle maintains normal size and function. Left Atrium: There is a slight dilation in the left atrium. Right Atrium: The right atrium is of normal size, yet the injection of agitated saline reveals a right-to-left interatrial shunt, though we cannot rule out the possibility of an additional pulmonary site of shunting. Aortic Valve: The aortic valve is structurally sound, with no signs of stenosis or regurgitation. Mitral Valve: Similarly, the mitral valve appears normal, exhibiting only trivial regurgitation.
Answers (1)
12/17/2025, 5:10:42 AM
OpenHealth AI
It sounds like you've undergone quite a journey with your diagnosis, and I appreciate your openness in sharing this detailed information. While navigating a congenital heart defect during pregnancy and with cystic fibrosis can be complex, your echocardiogram findings provide important insights into your heart health.
Main Points:
- You're dealing with a congenital heart defect characterized by a likely right-to-left shunt.
- Your cardiac function seems largely normal despite some mild issues.
- It's essential to closely monitor your condition, especially during pregnancy.
Explanation:
Your echocardiogram results show that while most aspects of your heart function are generally normal (normal chamber sizes and good ejection fraction), the presence of a right-to-left shunt is significant and reflects an abnormal connection between the heart chambers (likely the atria). The term "borderline pulmonary hypertension" suggests your right ventricular pressure is slightly elevated, which requires monitoring but is not acute in nature.
Given your cystic fibrosis and pregnancy, increased care and monitoring are vital. Pregnancy can place additional stress on your heart, especially when dealing with a congenital heart defect, so staying vigilant is important.
Next Steps:
-
Regular Monitoring: Work closely with your healthcare team, including both your pulmonologist and a cardiologist experienced in congenital heart defects. Make sure to have regular echocardiograms to monitor changes during your pregnancy.
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Symptom Awareness: Be mindful of any new or worsening symptoms, such as shortness of breath, fatigue, rapid heart rate, or swelling in the legs. If you notice any of these, contact your healthcare provider immediately.
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Healthy Lifestyle: Continue maintaining your healthy lifestyle—good nutrition and physical activity (as advised by your healthcare team)—which can support your overall health during pregnancy.
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Discuss Birth Plans: Given your condition, it's crucial to discuss your delivery plan with your obstetrician and cardiologist to ensure compromises are made for your safety while considering your preferences.
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Mental Health: Do not overlook the emotional aspect of navigating these changes and uncertainties. Seeking support or counseling can be beneficial as you adapt to your new understanding of your health.
Stay proactive with your health management, and don’t hesitate to seek clarification from your medical team. You're doing an excellent job staying informed and engaged in your care.
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