Adult Congenital Heart Disease Case File

https://medical-phd.blogspot.com/2021/04/adult-congenital-heart-disease-case-file.html

Eugene C. Toy, Md, Michael d . Faulx, Md

Case 26
A 30-year-old woman presents with 6 months of progressive dyspnea, orthopnea, and fatigue. Her
medical history is remarkable for “being born with a bad heart” that required surgery shortly after
birth, but she cannot provide additional details. Her surgery was performed in another state, and she
has no records. She denies other medical history and takes no medications. The patient does not use
tobacco, alcohol, or illicit drugs. Her family history is unremarkable. Her vital signs are as follows:
blood pressure 105/80 mmHg, heart rate 100 bpm, respiratory rate 16 breaths/ min, BMI 22 kg/m2,
and room air oximetry 92%. She is a thin, well-appearing woman with a healed sternotomy scar.
She has an 8-cm JVD at 45° and III/VI holosystolic murmur at the left sternal border with an S3
gallop. Her PMI is not displaced. She has coarse rales in the lung bases, and her legs are warm with
1+ pitting edema. Her ECG reveals sinus rhythm with a complete right bundle branch block. Her
chest x-ray shows a prior median sternotomy with interstitial edema, bilateral pleural effusions, and
cardiomegaly. Her technically difficult echocardiogram reveals normal left ventricular size and
systolic function with a competent mitral valve. The right ventricle is poorly visualized because of
artifact and narrow rib spaces; there appears to be some degree of tricuspid regurgitation with a
continuous Doppler flow signal near the great vessels from an uncertain source.

 What is your most likely diagnosis?

 What is the best next diagnostic step?
 What is the best next step in treatment?

Answer to Case 26:

Adult Congenital Heart Disease

Summary: This patient presents with signs and symptoms of decompensated heart failure. Her exam
suggests tricuspid regurgitation and biventricular failure, but her left ventricle is normal by
echocardiography. Her right ventricle is not well seen. This patient has obviously had open-heart
surgery to address congenital heart disease, but the precise nature of her congenital heart problem
and its repair is unknown. In cases such as this, cardiac MRI can be helpful since it can provide
both anatomic and functional information that may impact management. Conventional medical
therapy for heart failure is a reasonable first step.

 Most likely diagnosis: Heart failure in a patient with surgically managed complex congenital
heart disease.
 Next diagnostic step: Cardiac MRI.
 Next step in treatment: Careful titration of medical heart failure therapy

ANALYSIS
Objectives

1. To learn the epidemiology of adult congenital heart disease.

2. To understand the pathophysiology of common adult congenital heart diseases.
3. To recognize the presentation of congenital heart disease in adults.
4. To appreciate the consequences of untreated congenital heart disease in adults.

Considerations
This patient has a history of complex congenital heart disease that was surgically managed in
childhood, and she is presenting in adulthood with heart failure. This scenario is becoming
increasingly common in adult cardiovascular medicine, and it poses a major challenge to providers
because patients often have any specific knowledge of their original disease or how it was
addressed.

Approach To:
Adult Congenital Heart Disease

DEFINITIONS

Congenital Heart Disease: Abnormality of the structure and function of the heart and/or great
vessels that are present at birth. Congenital heart diseases can arise from genetic causes and in
utero exposures.

Shunt fraction: Qp/Qs; the ratio of pulmonary to systemic blood flow used to assess the severity
of intracardiac shunts. Qp/Qs can be assessed by Doppler echocardiography, invasive oximetry, or
cardiac MRI.

Cya notic heart disease: Subtype of congenital heart disease where deoxygenated blood bypasses
the lungs and enters the systemic circulation. Examples include tetralogy of Fallot, D-transposition
of the great arteries, and Eisenmenger syndrome.

Eisenmenger Syndrome: Syndrome defined by increased pulmonary vascular resistance and

cyanosis in the setting of a congenital communication between the systemic and pulmonary
circulatory beds. It is often a consequence of untreated congenital cardiac shunts.