ABSTRACT
A quadricuspid aortic valve (QAV) is a rare congenital heart defect, previously described as an incidental finding at the time of surgery or postmortem, which is now being increasingly detected by 2D transthoracic or transesophageal echocardiogram. With advances in echocardiography, secondary cardiac anomalies are also being described in association with QAV. Herein we describe a patient with QAV with a secundum atrial septal defect.
Subject(s)
Aortic Valve Insufficiency/congenital , Aortic Valve/abnormalities , Heart Septal Defects, Atrial/pathology , Adolescent , Aortic Valve/diagnostic imaging , Aortic Valve Insufficiency/diagnostic imaging , Bundle-Branch Block/diagnosis , Contrast Media/administration & dosage , Echocardiography, Doppler, Color , Echocardiography, Transesophageal , Electrocardiography , Heart Septal Defects, Atrial/diagnostic imaging , Humans , Hypertrophy, Left Ventricular/diagnosis , Hypertrophy, Right Ventricular/diagnosis , MaleABSTRACT
There are approximately 800,000 adult survivors of congenital heart disease in the U.S., and this number continues to increase on an annual basis. It was only 50 years ago that the first intracardiac repair of a congenital heart defect was performed. Survival into adulthood has only been realistic in the last three decades. This has created a new patient population with a number of challenges such as the impact of adult onset diseases on their underlying cardiac pathology, cognitive, physical, and psychosocial development, as well as issues related to reproduction, employment and health insurance. Possibly the most significant obstacle is identifying healthcare professionals who can provide long-term care. This manuscript reviews the challenges and recommendations for the care of these patients.
Subject(s)
Heart Defects, Congenital/surgery , Patient Care Team , Adult , Age Factors , Continuity of Patient Care , Heart Defects, Congenital/complications , Heart Defects, Congenital/mortality , Humans , SurvivorsABSTRACT
The 11q terminal deletion disorder or Jacobsen syndrome is a contiguous gene disorder. It is characterized by psychomotor retardation, cardiac defects, blood dyscrasias (Paris-Trousseau syndrome) and craniofacial anomalies. We report on a female patient with an approximately 10 Mb interstitial deletion with many of the features of Jacobsen syndrome: A congenital heart defect, dysmorphic features, developmental delay, and Paris-Trousseau syndrome. The karyotype of the patient is 46,XX,del(11)(q24.1q24.3). The interstitial deletion was confirmed using FISH probes for distal 11q, and the breakpoints were characterized by microarray analysis. This is the first molecularly characterized interstitial deletion in a patient with the clinical features of Jacobsen syndrome. The deletion includes FLI-1, but not JAM-3, which will help to determine the critical genes involved in this syndrome.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 11/genetics , Craniofacial Abnormalities , Developmental Disabilities/pathology , Heart Defects, Congenital/pathology , Abnormalities, Multiple/pathology , Child , Chromosome Banding , Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , SyndromeABSTRACT
Nesiritide is a recombinant formulation of B-type natriuretic peptide (BNP). Preliminary experience in the adult population has shown nesiritide to be an effective agent in the treatment of decompensated congestive heart failure (CHF) in adults. Given its physiological effects, it may be an effective agent in other clinical scenarios. We report the use of nesiritide in two infants during extracorporeal membrane oxygenation (ECMO). In one patient, nesiritide in doses up to 0.09 microg.kg(-1).min(-1) were used to control mean arterial pressure while in the other patient, doses of 0.01-0.03 microg.kg(-1).min(-1) were used to augment urine output. The potential applications of nesiritide and dosing regimens for this agent in the ECMO population are discussed.
Subject(s)
Extracorporeal Membrane Oxygenation/adverse effects , Natriuretic Agents/therapeutic use , Natriuretic Peptide, Brain/therapeutic use , Blood Pressure/drug effects , Cardiopulmonary Resuscitation/methods , Dose-Response Relationship, Drug , Electrocardiography/methods , Fatal Outcome , Heart Diseases/complications , Heart Diseases/therapy , Heart Ventricles/physiopathology , Hernia, Diaphragmatic/complications , Hernia, Diaphragmatic/surgery , Humans , Hypertension/complications , Hypertension/drug therapy , Hypokinesia/complications , Hypokinesia/diagnosis , Hypoplastic Left Heart Syndrome/complications , Hypoplastic Left Heart Syndrome/surgery , Infant, Newborn , Male , Respiratory Insufficiency/complications , Respiratory Insufficiency/therapy , Urination/drug effectsABSTRACT
An infant born with total anomalous pulmonary venous return (TAPVR) was found to have an extra chromosome present as a small ring. Spectral karyotyping and FISH analysis identified the material as a duplication involving the short arm of chromosome 12. Previous cases describing a variety of cytogenetic abnormalities that have been associated with TAPVR are reviewed along with prior cases of duplication 12p with their associated findings. We believe ours is the first case to report the occurrence of mosaic ring 12p and its association with TAPVR.
Subject(s)
Chromosomes, Human, Pair 12/genetics , Heart Defects, Congenital/genetics , Pulmonary Veins/abnormalities , Ring Chromosomes , Chromosome Banding , Heart Defects, Congenital/pathology , Humans , In Situ Hybridization, Fluorescence , Infant , Karyotyping , Male , MosaicismABSTRACT
A 3-month-old infant of 33 weeks' gestation was hospitalized with pneumonia caused by Bordetella pertussis. Respiratory insufficiency worsened, and on hospital day 3, there was severe pulmonary dysfunction (arterial oxygen pressure/fraction of inspired oxygen ratio: 120), extreme leukocytosis (white blood cell count 104,000/mm3), and severe pulmonary hypertension as assessed by 2-dimensional echocardiogram. A double volume exchange transfusion was performed to reduce the leukocyte mass. Oxygenation began to improve during the exchange and continued to improve over the ensuing 31 hours (arterial oxygen pressure/fraction of inspired oxygen ratio: 280). The white blood cell count fell dramatically after the exchange, and the rate of rise was slower after exchange therapy compared with preexchange.
