Abstract/Description
CASE PRESENTATION: This patient is a 40 y.o. male with a BMI of 46.2 kg/m2 who presented to the ED with fluid overload, shortness of breath, and orthopnea. The patient was tachycardic and physical exam revealed anasarca and ascites. The patient reported chronic lower extremity and scrotal edema so severe that he had been unable to walk and was mainly homebound for the past two years. The patient’s past medical history was significant for hypertension, alcohol use disorder with history of withdrawal, and a cardiac murmur which the patient attributed to a “hole in the heart” for which he had undergone surgery during childhood. He had not seen a physician in several years. Labs and imaging were remarkable for cardiomegaly and interstitial edema on X-ray, paroxysmal atrial tachycardia and indications of non-ischemic cardiomyopathy on EKG, and an elevated proBNP. Thus, this young man was admitted for further work up and management of new onset heart failure. During his hospitalization, a transesophageal echo showed a VSD repair with a small residual VSD, significant bilateral ventricular systolic dysfunction, and severe tricuspid and pulmonic valve regurgitation. Consultation with the adult congenital heart defect (CHD) team, composed of physicians based primarily within the neighboring pediatric hospital, yielded further insights into this patient’s background. Per their records, the patient had undergone two sternotomies at 6 and 18 months to repair for tetralogy of Fallot and the current clinical picture was consistent with post-repair complications. The patient was ultimately hospitalized for three weeks in which time his GDMT and inotropic management were optimized. Patient lost 123 pounds through aggressive diuresis, was able to walk again, and felt substantially better. Four months later, the patient is closely followed outpatient by ACHD and attends cardiac rehab as he awaits plans being crafted by his multisubspecialty cardiology team for surgical intervention, possibly involving heart transplantation. In the meantime he is committed to complying with treatment, maintaining a healthy lifestyle, and managing his healthcare.
DISCUSSION: At the heart of this case is a pediatric patient who did not receive adequate transition of care into adult health care and an adult patient who lacked understanding of the complex medical care he received in early childhood. Consequently, the patient suffered gravely for years before presenting emergently for weeks of lifesaving care and now continues to face a long journey of treatment with a guarded prognosis. Cases like this exemplify the reason why there is a home for Med-Peds in ACHD, with currently half of ACHD fellowship trainees being med-peds physicians. However, it also sheds light on the devastating gaps that remain in transitioning complex pediatric patients to adult care and ensuring they can enjoy healthy lives.
Faculty Advisor/Mentor
Ashish Saini
Faculty Advisor/Mentor Department
Cardiology
College/School/Affiliation
Children's Hospital of the King's Daughters (CHKD)
Included in
"Lost to follow up:" A Case of an Adult Congenital Heart Defect Patient Who Faced Morbidity in Adulthood After Lacking Transitional Care Following Medical Intervention in Childhood
CASE PRESENTATION: This patient is a 40 y.o. male with a BMI of 46.2 kg/m2 who presented to the ED with fluid overload, shortness of breath, and orthopnea. The patient was tachycardic and physical exam revealed anasarca and ascites. The patient reported chronic lower extremity and scrotal edema so severe that he had been unable to walk and was mainly homebound for the past two years. The patient’s past medical history was significant for hypertension, alcohol use disorder with history of withdrawal, and a cardiac murmur which the patient attributed to a “hole in the heart” for which he had undergone surgery during childhood. He had not seen a physician in several years. Labs and imaging were remarkable for cardiomegaly and interstitial edema on X-ray, paroxysmal atrial tachycardia and indications of non-ischemic cardiomyopathy on EKG, and an elevated proBNP. Thus, this young man was admitted for further work up and management of new onset heart failure. During his hospitalization, a transesophageal echo showed a VSD repair with a small residual VSD, significant bilateral ventricular systolic dysfunction, and severe tricuspid and pulmonic valve regurgitation. Consultation with the adult congenital heart defect (CHD) team, composed of physicians based primarily within the neighboring pediatric hospital, yielded further insights into this patient’s background. Per their records, the patient had undergone two sternotomies at 6 and 18 months to repair for tetralogy of Fallot and the current clinical picture was consistent with post-repair complications. The patient was ultimately hospitalized for three weeks in which time his GDMT and inotropic management were optimized. Patient lost 123 pounds through aggressive diuresis, was able to walk again, and felt substantially better. Four months later, the patient is closely followed outpatient by ACHD and attends cardiac rehab as he awaits plans being crafted by his multisubspecialty cardiology team for surgical intervention, possibly involving heart transplantation. In the meantime he is committed to complying with treatment, maintaining a healthy lifestyle, and managing his healthcare.
DISCUSSION: At the heart of this case is a pediatric patient who did not receive adequate transition of care into adult health care and an adult patient who lacked understanding of the complex medical care he received in early childhood. Consequently, the patient suffered gravely for years before presenting emergently for weeks of lifesaving care and now continues to face a long journey of treatment with a guarded prognosis. Cases like this exemplify the reason why there is a home for Med-Peds in ACHD, with currently half of ACHD fellowship trainees being med-peds physicians. However, it also sheds light on the devastating gaps that remain in transitioning complex pediatric patients to adult care and ensuring they can enjoy healthy lives.