Unicuspid unicommissural aortic valve is an extremely rare congenital anomaly that usually presents in adulthood but can rarely present in infancy. We report a 17-year-old patient with congenital ...aortic stenosis secondary to unicuspid unicommissural aortic valve that was successfully treated with aortic valve replacement.
The patient was diagnosed with aortic stenosis after a murmur was heard in the newborn nursery and subsequently underwent aortic balloon valvuloplasty 6 weeks after birth. He had been regularly followed up since and underwent numerous cardiac catheterizations, including another aortic balloon valvuloplasty at age 13. During follow-up at age 17, the patient presented with symptomatic severe aortic stenosis and mild left ventricular hypertrophy. Aortic valve replacement was planned since the patient was nearly adult-sized and to reduce the risk of cardiac decompensation. During the operation an unicuspid unicommissural aortic valve was revealed. The patient recovered well post-operatively. He was discharged 5 days after the surgery in good condition and was completely symptom-free at follow-up 6 weeks later.
Unicuspid aortic valve is a rare congenital anomaly that can cause congenital aortic stenosis. It is seldom diagnosed pre-operatively but should be suspected in infants presenting with aortic stenosis.
Background
Cardiomyopathy is a known complication of organic acidemias but generally thought to be secondary to poor metabolic control.
Methods
Our patient was found through biochemical testing and ...Sanger sequencing to harbor an Icelandic founder mutation: NM_052845.4(MMAB):c.571C > T(p.Arg191Trp), leading to an early presentation (4 h after birth) of cblB‐type methylmalonic acidemia (MMA). Biochemical testing of this patient suggested B‐12‐responsiveness and thus the patient was treated with cyanocobalamin throughout life. Informed parental consent was obtained for this report.
Results
Our patient had three metabolic decompensations in her life (at birth, at 1 month, and at 5 months). The first decompensation was probably linked to stress of delivery, second to rhinovirus infection, and third by co‐infection of norovirus and enterovirus. At 3 months, the patient was noted to be tachypneic, although this was attributed to her underlying metabolic acidosis. At 5 months and 10 days, the patient was admitted with minor flu‐like symptoms but developed severe diarrhea in hospital and upon rehydration had cardiac decompensation and was found to have undiagnosed dilated cardiomyopathy. Although, patient was treated aggressively with dextrose, hemodialysis, levocarnitine, and vasoactive agents, there was limited response to medications to treat cardiac failure, and eventually the patient passed away before turning 6 months old.
Conclusions
Other than these three mild decompensations, patient had very good metabolic control, thus demonstrating that even without frequent metabolic decompensation, cardiomyopathy can be an observed phenotype in cblB‐type MMA even very early in life, suggesting that this phenotype may be independent of metabolic control.
Early heart failure in a patient with methylmalonic acidemia (MMA). The patient succumbed to heartfailure due to dilated cardiomyopathy despite regular control as recommended for MMA patients.
Background Long-QT syndrome (LQTS) is a cardiac repolarization abnormality that can lead to sudden cardiac death. The most common causes are rare coding variants in the genes
,
, and
. The data on ...LQTS epidemiology are limited, and information on expressivity and penetrance of pathogenic variants is sparse. Methods and Results We screened for rare coding variants associated with the corrected QT (QTc) interval in Iceland. We explored the frequency of the identified variants, their penetrance, and their association with severe events. Twelve variants were associated with the QTc interval. Five in
1, 3 in
, 2 in cardiomyopathy genes
and
, and 2 in genes where coding variants have not been associated with the QTc interval,
and
The combined carrier frequency of the 8 variants in the previously known LQTS genes was 530 per 100 000 individuals (1:190). p.Tyr315Cys and p.Leu273Phe in
were associated with having a mean QTc interval longer than 500 ms (
=4.2×10
; odds ratio OR, 38.6;
=8.4×10
, OR, 26.5; respectively), and p.Leu273Phe was associated with sudden cardiac death (
=0.0034; OR, 2.99). p.Val215Met in
was carried by 1 in 280 Icelanders, had a smaller effect on the QTc interval (
=1.8×10
; effect, 22.8 ms), and did not associate with severe clinical events. Conclusions The carrier frequency of associating variants in LQTS genes was higher than previous estimates of the prevalence of LQTS. The variants have variable effects on the QTc interval, and carriers of p.Tyr315Cys and p.Leu273Phe have a more severe disease than carriers of p.Val215Met. These data could lead to improved identification, risk stratification, and a more precise clinical approach to those with QTc prolongation.
Complications of endomyocardial biopsy in children Pophal, Stephen G; Sigfusson, Gunnlaugur; Booth, Karen L ...
Journal of the American College of Cardiology,
12/1999, Letnik:
34, Številka:
7
Journal Article
Recenzirano
Odprti dostop
OBJECTIVES
To evaluate the incidence of, and risk factors for, complications of endomyocardial biopsy in children.
BACKGROUND
Endomyocardial biopsy (EMB) is a low risk procedure in adults, but there ...is a paucity of data with regard to performing this procedure in children.
METHODS
Retrospective review of the morbidity and mortality of 1,000 consecutive EMB procedures.
RESULTS
One thousand EMB procedures (right ventricle 986, left ventricle 14) were performed on 194 patients from July 1987 through March 1996. Indications for EMB included heart transplant rejection surveillance (846) and the evaluation of cardiomyopathy or arrhythmia for possible myocarditis (154). Thirty-seven (4%) procedures were performed on patients receiving intravenous inotropic support. There was one biopsy related death, secondary to cardiac perforation, in a two-week-old infant with dilated cardiomyopathy. There were nine perforations of the right ventricle, eight occurring in patients with dilated cardiomyopathy and one in a transplant recipient. The transplant patient did not require immediate intervention; two patients required pericardiocentesis alone, and six underwent pericardiocentesis and surgical intervention. All nine perforations were from the femoral venous approach (p < 0.01). Multivariate analysis demonstrated that the greatest risk of perforation occurred in children being evaluated for possible myocarditis (p = 0.01) and in those requiring inotropic support (p < 0.01). Other complications included arrhythmia (5) and single cases of coronary-cardiac fistula, flail tricuspid leaflet, pneumothorax, hemothorax, endocardial stripping and seizure.
CONCLUSIONS
Risk of endomyocardial biopsy is highest in sick children with suspected myocarditis on inotropic support. However, EMB can be performed safely with very low morbidity in pediatric heart transplant recipients.
Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions-deletions (indels). We ...describe the density and frequency spectra of sequence variants in relation to their functional annotation, gene position, pathway and conservation score. We demonstrate an excess of homozygosity and rare protein-coding variants in Iceland. We imputed these variants into 104,220 individuals down to a minor allele frequency of 0.1% and found a recessive frameshift mutation in MYL4 that causes early-onset atrial fibrillation, several mutations in ABCB4 that increase risk of liver diseases and an intronic variant in GNAS associating with increased thyroid-stimulating hormone levels when maternally inherited. These data provide a study design that can be used to determine how variation in the sequence of the human genome gives rise to human diversity.
Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia in man, causing substantial morbidity and mortality with a major worldwide public health impact. It is increasingly recognized ...as a highly heritable condition. This study aimed to determine genetic risk factors for early-onset AF.
We sequenced the whole genomes of 8453 Icelanders and imputed genotypes of the 25.5 million sequence variants we discovered into 1799 Icelanders with early-onset AF (diagnosed before 60 years of age) and 337 453 controls. Each sequence variant was tested for association based on multiplicative and recessive inheritance models. We discovered a rare frameshift deletion in the myosin MYL4 gene (c.234delC) that associates with early-onset AF under a recessive mode of inheritance (allelic frequency = 0.58%). We found eight homozygous carriers of the mutation, all of whom had early-onset AF. Six of the homozygotes were diagnosed by the age of 30 and the remaining two in their 50s. Three of the homozygotes had received pacemaker implantations due to sick sinus syndrome, three had suffered an ischemic stroke, and one suffered sudden cardiac death.
Through a population approach we found a loss of function mutation in the myosin gene MYL4 that, in the homozygous state, is completely penetrant for early-onset AF. The finding may provide novel mechanistic insight into the pathophysiology of this complex arrhythmia.
Coarctation of the aorta (CoA) is a congenital narrowing of the aorta, distal to the origin of the left subclavian artery. Treatment consists of surgical excision but balloon angioplasty is also a ...treatment option for selected patients. The aim of this study was to evaluate surgical outcome in children operated for CoA in Iceland.
All Icelandic children (<18 yrs.) operated for CoA in Iceland between 1990 and 2006. Patients operated abroad (n=17) or managed conservatively (n=12) were excluded. Mean follow up period was 8.5 +/- 4.3 years.
Of 67 children diagnosed with CoA, 38 were operated on in Iceland (mean age 36 +/- 58 months, and 22 male and 16 female patients), 10 required immediate surgery for cardiac failure and eight were diagnosed incidentally. Extended end-to-end anastomosis was the most common procedure (n=31). Subclavian-flap aortoplasty was performed in seven patients. Average operation time was 134 min. and mean aortic closure time was 21 +/- 9 min. Hypertension (58%) and heart failure (11%) were the most common postoperative complications. Recoarctation developed 35 +/- 56 months after surgery in seven patients (18%) and was successfully treated with balloon angioplasty. There were no operative deaths and no patients developed paraplegia. One patient suffered an ischemic injury to the brachial plexus. Today all of the patients are alive, except for one patient that died four months after surgery from heart failure.
Majority of Icelandic patients with CoA are operated on in Iceland with excellent outcome, both regarding short term complications and long term survival.
Hyponatremia is the most common electrolyte abnormality in children and underlying causes are many. It is most often caused by excessive salt loss from the gut but is also associated with severe ...systemic disorders in which there is actual or apparent aldosterone deficiency, such as congenital adrenal hyperplasia (CAH), which is the most common inherited disorder of aldosterone synthesis, and pseudohypoaldosteronism (PHA). Abscent aldosterone activity also leads to hyperkalemia which is characteristic for PHA and can result in life threatening arrythmias. This is a case report about a boy presenting with life threatening electrolyte disturbances in conjunction with PHA resulting from pyelonephritis and vesicoureteral reflux.
The aim of the study was to evaluate the indications and outcomes of fetal echo (FE) and determine which indication has the highest detection rate for congenital heart disease (CHD).
The referral ...indications and results of FE performed in Iceland during 2003-2007 were reviewed. Information regarding gestational age at diagnosis, nuchal translucency, pregnancy outcome, autopsy results and postnatal diagnosis were obtained from medical records.
During the five year period 1187 FE were performed. Structural heart defect was diagnosed in 73 fetuses. The most common referral indication was family history of CHD (631;53.2%) which led to diagnosis of 18 heart defects prenatally (2.9%). The second most common referral indication was increased nuchal translucency (159) and abnormal cardiac findings were present in 16 cases (10.1%). A total of 30 women were referred for FE because of abnormal four chamber view (AFCV) which resulted in the diagnosis of 22 (73.3%) major heart defects, either incompatible with life or requiring immediate intervention after birth. Other indications led mostly to the diagnoses of minor defects.
AFCV is the most important predictor for diagnosis of structural heart defects. 2,5% were referred for FE due to AFCV which led to diagnosis of 30% of all heart defects, all of which were major. Key words: fetal echocardiography, indications, congenital heart disease.
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