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Antepartum Diagnosis and Management of Lamin A/C Disease
Nosheen Reza1, Jessica L Chowns1, Amy Marzolf1
1Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Insights
Lamin A/C cardiac disease, a genetic heart condition, can affect pregnant women. Early diagnosis and management are crucial for both mother and fetus.
Area of Science:
- Cardiovascular Genetics
- Nuclear Proteinopathies
- Human Genetics
Background:
- Lamin A/C cardiac disease is an inherited condition affecting heart function.
- It presents as cardiomyopathy and arrhythmia syndrome, often in adulthood.
- Autosomal dominant inheritance patterns are typical.
Observation:
- This genetic heart disease can manifest aggressively in women of childbearing age.
- Risk stratification and management are critical for these patients.
- A case of newly diagnosed lamin A/C cardiac disease in a pregnant woman is presented.
Findings:
- The study highlights a pregnant patient newly diagnosed with lamin A/C cardiac disease.
- This underscores the importance of considering this condition during pregnancy.
- It emphasizes the need for specialized care in such cases.
Implications:
- This case highlights the critical need for awareness and specialized management of lamin A/C cardiac disease in pregnant women.
- It informs risk stratification and clinical decision-making for affected pregnancies.
- Further research may elucidate optimal management strategies for this rare but serious condition.
Abstract:
Lamin A/C cardiac disease is a genetic cardiomyopathy and arrhythmia syndrome caused by alterations in the function of the nuclear lamin A and C proteins. It is inherited in an autosomal dominant manner and usually presents in mid- to late adulthood with atrioventricular conduction abnormalities, atrial and ventricular arrhythmias, biventricular dysfunction, and advanced heart failure. While rare, women of childbearing age can exhibit an aggressive disease course, and appropriate risk stratification and management are critical. Here, we present a case of newly diagnosed lamin A/C cardiac disease in a pregnant woman.
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