Discrete subvalvular aortic stenosis is a relatively uncommon cause of the left ventricular outflow obstruction, requiring early intervention. Conventional transthoracic echocardiography may fail in some patients due to insufficient imaging quality. In particular, in patients with a discrete fibrous membrane close to the aortic valve without narrowing of the left ventricular outflow tract, the echocardiographic detection of the membrane may be difficult. Transesophageal echocardiography allows a clear visualization of the aortic valve and the left ventricular outflow tract in virtually all patients, it can be performed rapidly with almost no risk, and it may therfore be helpful in establishing the diagnosis of discrete subaortic stenosis, in particular in patients where the conventional transthoracic approach fails. We have experienced two cases of discrete subaortic stenosis. One case of them was combined with hypertrophic obstructive cardiomyopathy in this report we discussed the utility of multiplane transesophageal echocardiography in patients with discrete subvalvular aortic stenosis.
Aortic Stenosis, Subvalvular* ; Aortic Valve ; Cardiomyopathy, Hypertrophic ; Diagnosis ; Discrete Subaortic Stenosis ; Early Intervention (Education) ; Echocardiography* ; Echocardiography, Transesophageal ; Humans ; Membranes ; Ventricular Outflow Obstruction

BACKGROUND: Discrete subaortic stenosis is known to recur frequently even after surgical resection. We retrospectively reviewed the preoperative and postoperative changes in pressure gradient through left ventricular outflow tract, and the recurrence rate. MATERIAL AND METHOD: Between September 1984 and December 2004, 34 patients underwent surgical treatment. Mean age of patients was 17.1+/-15.2 years and 19 patients (55.9%) were male. 16 patients (47.1%) had previous operations and associated diseases were aortic regurgitation (11), coarctation of aorta (3), and others. RESULT: Immediate postoperative peak pressure gradient was significantly lower than preoperative peak pressure gradient (21.8 mmHg vs 75.8 mmHg, p<0.01). Peak pressure gradient measured after 50.3 months of follow up was 20.2 mmHg, which was also significantly lower than that of preoperative value but not significantly different from that of immediate postoperative value. There was no surgical mortality but one patient developed cerebral infarction. Mean follow up duration was 69.8+/-54.6 months. During this period, 5 patients (14.7%) had reoperation, 3 (8.8%) of whom were due to recurred subaortic stenosis. We found no risk factors for recurrence and survival for free from reoperation was 76.4%. CONCLUSION: Excision of subaortic membrane combined with or without myectomy in discrete subaortic stenosis showed sufficient relief of left ventricular outflow tract obstruction with low mortality and morbidity, but careful long term follow up is necessary for recurrence, since it is not predictable.
Aortic Coarctation ; Aortic Stenosis, Subvalvular ; Aortic Valve Insufficiency ; Cerebral Infarction ; Constriction, Pathologic ; Discrete Subaortic Stenosis* ; Follow-Up Studies ; Humans ; Male ; Membranes ; Mortality ; Recurrence ; Reoperation ; Retrospective Studies ; Risk Factors

Subvalvular aortic stenosis developed after patch closure of perimembranous VSD is rarely reported. A 18-month-old, 8 kg child with this complication after VSD closure 8 months ago in other hospital has been treated medically and was admitted to this hospital because of severe cardiomegaly and sign of heart failure. Cardiac catheterization revealed 55 mmHg of pressure gradient between aorta and LV cavity. We report one successful redo case of surgically relieved subvalvular aortic stenosis in a child after patch closure of perimembranous VSD.
Aorta ; Aortic Stenosis, Subvalvular* ; Cardiac Catheterization ; Cardiac Catheters ; Cardiomegaly ; Child* ; Heart Failure ; Humans ; Infant

Although hypertrophic cardiomyopathy (HCM) may cause heart failure, HCM and dilated cardiomyopathy (DCM) are generally recognized as separate diseases. This report describes two cases of maternally inherited familial HCM, which, after pregnancy, rapidly deteriorated to heart failure and cardiac chamber dilatation, resembling DCM. Some members of this family also suffered sudden cardiac death (SCD).
Cardiomyopathy, Dilated ; Cardiomyopathy, Hypertrophic ; Cardiomyopathy, Hypertrophic, Familial* ; Death, Sudden, Cardiac* ; Dilatation ; Heart Failure ; Humans ; Pregnancy*

Congenial mitral stenosis may be defined as a develpment abnormality of the mitral valve leaflets,commissures, interchordal spaces, papillary muscle,s annulus or immediate supravalvular area producing obstructionto left ventricular filling. Authors had experience of nine cases of congenital mitral stenosis confirmed by twodimenstional echocardiography, angiocardiography and surgery in recent 5 years since 1979, and analyzed them withemphasis on the angiographic findings. The results are as follows; 1. Among 9 cases, 6 patients were male and 3 were female. Age distribution was from 4 months to 11 years. 2. The types of congenital mitral stenosis were 1typical congenital mitral stenosis, 5 cases of parachute mitral valve and 3 cases of supramitral ring. 3. Angiographically typical congenital mitral stenosis showed narrowing of mitral valvular opening, parachute mitralvalve displayed single large papillary muscle with narrowed valvular opening and supramitral ring disclosedsemilunar shaped filling defect between left atrium and ventricle. 4. Associated cardiac and extracardiacanomalies of congenital mitral stenosis, as frequency wise, were ventricular septal defect, patent ductusarteriosus, coarctation of aorta, supra and subvalvular aortic stenosis, mitral regurgitation and double outletright ventricle. 5. Cardiac angiography is essential to diagnose congenital mitral stenosis, but the need of two dimensional echocardiography cannot be ignored.
Age Distribution ; Angiocardiography ; Angiography ; Aortic Coarctation ; Aortic Stenosis, Subvalvular ; Echocardiography ; Female ; Heart Atria ; Heart Septal Defects, Ventricular ; Humans ; Male ; Mitral Valve ; Mitral Valve Insufficiency ; Mitral Valve Stenosis ; Papillary Muscles

About half of all cases of hypertrophic cardiomyopathy(HCMP) have a positive family history. All first-degree relatives of patients with HCMP should be screened with echocardiography. The prenatal diagnosis of abnormal septal hypertrophy in fetuses of mothers with HCMP has not yet been documented. We report a prenatal diagnosis in a case of familial HCMP by ultrasonography which was confirmed by autopsy. Fetal echocardiography provides a valuable aid in diagnosis of familial HCMP.
Autopsy ; Cardiomyopathy, Hypertrophic, Familial* ; Diagnosis ; Echocardiography ; Fetus ; Humans ; Hypertrophy ; Mothers ; Prenatal Diagnosis* ; Ultrasonography ; Ultrasonography, Prenatal*

OBJECTIVETo explore the clinical characteristics of patients with inherited hypertrophic cardiomyopathy.

METHODSThe clinical characteristics, electrocardiogram, serum chemistry and diagnostic methods were retrospectively investigated in 5 patients with inherited hypertrophic cardiomyopathy.

RESULTSThe electrocardiograms of all patients were abnormal, with prominent left ventricular voltage and ST-T changes. One male patient with clinicopathological features of early onset, muscle weakness, ventricular preexcitation, elevations of two serum proteins and intracytoplasmic vacuoles containing autophagic material and glycogen in biceps brachial muscle cells was diagnosed Danon's disease. Mitochondrial cardiomyopathy was diagnosed in one male patient with early onset, short PR interval and biopsy findings of ragged-red fibers in biceps brachial muscle. Three patients were diagnosed as Fabry's disease with clinical characteristics including pain and acroparesthesias, angiokeratoma and decrease of alpha-galactosidase A activity.

CONCLUSIONSome of the rare inherited hypertrophic cardiomyopathy might easily be clinically misdiagnosed as hypertrophic cardiomyopathy, systemic and careful case history inquiring and specific relevant examinations would help to make the right diagnosis in these patients.

Adolescent ; Adult ; Cardiomyopathy, Hypertrophic, Familial ; diagnosis ; genetics ; Diagnosis, Differential ; Female ; Humans ; Male ; Middle Aged ; Young Adult

Asymmetric septal hypertrophy with systolic anterior motion of the mitral valve is frequently a phenotypic, but not pathognomonic, expression of genetic hypertrophic cardiomyopathy (HCM) with or without obstruction. It can, however, be associated nonspecifically with other forms of increased left ventricular (LV) afterload. We herein report the case of a young man with obesity cardiomyopathy and heart failure who presented with asymmetric septal hypertrophy and marked LV hypertrophy, and endomyocardial biopsy ruled out genetic HCM.
Adult ; Cardiomyopathy, Hypertrophic, Familial ; Diagnosis, Differential ; Echocardiography ; Humans ; Hypertrophy, Left Ventricular ; complications ; diagnosis ; Male ; Obesity, Morbid ; complications

BACKGROUNDHypertrophic cardiomyopathy (HCM) is a form of cardiomyopathy with an autosomal dominant inherited disease, which is caused by mutations in at least one of the sarcomeric protein genes. Mutations in the beta-myosin heavy chain (beta-MHC) are the most common cause of HCM. This study was to reveal the disease-causing gene mutations in Chinese population with HCM, and to analyze the correlation between the genotype and phenotype.

METHODSThe exons 3 to 26 of MYH7 were amplified by PCR, and the PCR products were sequenced in five non-kin HCM patients. A 17-year-old patient was detected to be an Arg723Gly mutation carrier. Then his family was gene-screened, and the correlation between genotype and phenotype was analyzed.

RESULTSThe mutation of Arg723Gly in a Chinese family with HCM was detected for the first time. With a C-G transversion in nucleotide 13,619 of the MYH7 gene, located at the essential light chain interacting region in S1, the replacement of arginine by glycine took place at amino acid residue 723. A two-dimensional echocardiogram showed moderate asymmetrical septal hypertrophy with left atria enlargement. There was no obstruction in the left ventricular outflow tract. In his family, a total of 13 individuals were diagnosed HCM and 5 of them were dead of congestive heart failure at a mean age of 66-year-old. Eight living members were all detected to carry the mutation, in which 3 developed progressive heart failure. Moreover, the heart function of the people evidently deteriorates when their age are older than 50. The mutation and the disease show co-separated.

CONCLUSIONThe Arg723Gly mutation is a malignant type. In Chinese the mutation has the similar characters to the former report but has low degree malignant.

Adolescent ; Adult ; Cardiomyopathy, Hypertrophic, Familial ; genetics ; Female ; Humans ; Male ; Middle Aged ; Mutation, Missense ; Myosin Heavy Chains ; genetics ; Ventricular Myosins ; genetics

Combined double chambered right ventricle(DCRV) and discrete subaortic stenosis(DSAS) is a rare entity on which only 12 cases have been reported in the literature. We presented a case of combined DCRV and DSAS in an 18 year old girl. She had type II(thin membranous type) DSAS and the peak systolic prssure gradient between aorta and left ventricle was 38 mmHg. Aberrant muscle bundle was found on the right ventriculography and the pressure gradient in the right ventricle was 35 mmHg. She also had aortic regurgitation, persistent left sided superior vena cava and extracardiac malformations such as kyphoscoliosis and congenital cloacal anomaly.
Adolescent ; Aorta ; Aortic Valve Insufficiency ; Discrete Subaortic Stenosis* ; Female ; Heart Ventricles* ; Humans ; Vena Cava, Superior