Noonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstruction

SummaryAccessory atrioventricular valvar tissue is uncommon and, on occasion, has been identified as a cause of ventricular outflow obstruction. Accessory tricuspid valvar tissue has been reported to cause subpulmonary obstruction but infrequently has accessory tissue arising from the mitral valve been associated with obstruction. This paper reports two cases of subvalvar obstruction; the first in association with a ventricular septal defect causing subaortic obstruction and the other in association with congenitally corrected transposition and a ventricular septal defect, causing subpulmonary obstruction.

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Relationship between auscultatory events and structural abnormalities in mitral valve prolapse: A two-dimensional echocardiographic evaluation

American Heart Journal ◽

10.1016/0002-8703(84)90757-9 ◽

1984 ◽

Vol 108 (5) ◽

pp. 1298-1306 ◽

Cited By ~ 3

Author(s):

Stephen Arvan ◽

Stephen Tunick

Keyword(s):

Mitral Valve ◽

Mitral Valve Prolapse ◽

Two Dimensional ◽

Echocardiographic Evaluation ◽

Structural Abnormalities

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Accessory mitral valve without subaortic obstruction of left ventricular outflow tract in a middle-aged male

BMJ Case Reports ◽

10.1136/bcr-2012-006949 ◽

2012 ◽

Vol 2012 (nov21 1) ◽

pp. bcr2012006949-bcr2012006949 ◽

Cited By ~ 3

Author(s):

C. Golias ◽

T. Bitsis ◽

D. Krikidis ◽

K. Charalabopoulos

Keyword(s):

Mitral Valve ◽

Left Ventricular Outflow Tract ◽

Ventricular Outflow Tract ◽

Left Ventricular ◽

Outflow Tract ◽

Middle Aged ◽

Left Ventricular Outflow ◽

Subaortic Obstruction ◽

Middle Aged Male

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Membranous septal aneurysm in a child with Noonan syndrome and hypertrophic cardiomyopathy

10.22541/au.161496450.06346078/v1 ◽

2021 ◽

Author(s):

PRIYADARSHINI ARUNAKUMAR ◽

Usha MK ◽

RAMYA S ◽

Jayaranganath M

Keyword(s):

Hypertrophic Cardiomyopathy ◽

Mitral Valve ◽

Noonan Syndrome ◽

Left Ventricular Outflow Tract ◽

Interventricular Septum ◽

Ventricular Outflow Tract ◽

Left Ventricular ◽

Outflow Tract ◽

Mitral Leaflet ◽

Left Ventricular Outflow

A four year old boy was diagnosed with hypertrophic cardiomyopathy with moderate degree of obstruction of the left ventricular outflow tract, secondary to asymmetric septal hypertrophy and no features of congestive heart failure, at the age of the 7 months. He was also found to have myxomatous mitral valve, systolic anterior motion of anterior mitral leaflet and moderate mitral regurgitation. There was no evidence of ventricular septal defect at this point in time.In view of phenotypic features suggestive of Noonan syndrome, he underwent genetic evaluation with target gene sequencing and was detected to have a novel heterozygous mutation in exon 13 of LZTR 1 (Leucine- zipper-like transcriptional regulator 1) gene. Echocardiogram on follow up showed increase in left ventricular outflow tract obstruction and appearance of an aneurysm in the membranous portion of interventricular septum. There were no features of right ventricular outflow obstruction, tricuspid regurgitation or aortic regurgitation. The appearance of the membranous septal aneurysm may be related to the direction of jet arising from the point of contact of the anterior mitral leaflet with the hypertrophied basal septum and hitting this part of the interventricular septum. It is an unusual mechanism for formation of membranous septal aneurysm, given its absence in the earlier echocardiograms and absence of any left to right shunt across the aneurysm. He has been initiated on beta blockers due to severe left ventricular outflow tract obstruction and is planned for septal myomectomy, resection of membranous septal aneurysm and mitral valve repair.

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Mitral valve prolapse in relation to sport

The ESC Textbook of Sports Cardiology ◽

10.1093/med/9780198779742.003.0026 ◽

2019 ◽

pp. 226-233

Author(s):

Christian Schmied ◽

Sanjay Sharma

Keyword(s):

Mitral Valve ◽

Athletic Training ◽

Mitral Valve Prolapse ◽

Cerebrovascular Accident ◽

Cardiac Death ◽

Comprehensive Evaluation ◽

Structural Abnormalities ◽

Definition Of ◽

And Function ◽

Myxoid Degeneration

Depending on the definition of the disease and diagnostic criteria mitral valve prolapse (MVP) is one of the commonest structural abnormalities of the heart. The condition is characterized by myxoid degeneration of the mitral valve and appears to be more common in females. Trans-thoracic echocardiography is the primary diagnostic tool for diagnosing MVP and provides information about the structure and function of the valve, but also allows comprehensive evaluation of the subvalvular complex. Additional trans-oesophageal echocardiography and 3D echocardiography provide excellent further assessment of the mitral valve complex. The vast majority of patients have a relatively benign natural history. However, a small proportion may develop severe mitral regurgitation due to degenerative disease or chordal rupture, infective endocarditis, embolic cerebrovascular accident, supraventricular and ventricular arrhythmias, and sudden cardiac death. Athletic training has the potential for expediting the degenerative process and a propensity for arrhythmias or even sudden death.

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Concomitant septal myectomy and mitral valve repair in a child with Noonan syndrome

Clinical Case Reports ◽

10.1002/ccr3.3531 ◽

2020 ◽

Author(s):

Toshio Doi ◽

Daisuke Toritsuka ◽

Akihiko Higashida ◽

Shigeki Yokoyama ◽

Kazuaki Fukahara ◽

...

Keyword(s):

Mitral Valve ◽

Mitral Valve Repair ◽

Noonan Syndrome ◽

Valve Repair ◽

Septal Myectomy

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Double orifice mitral valve associated with subaortic stenosis—echocardiographic and anatomic findings

Cardiology in the Young ◽

10.1017/s1047951100002134 ◽

1994 ◽

Vol 4 (2) ◽

pp. 168-171

Author(s):

Thomas B. Johnson ◽

Derek A. Fyfe ◽

Stephen J. Swanger

Keyword(s):

Mitral Valve ◽

Congenital Heart ◽

Surgical Repair ◽

Subaortic Stenosis ◽

Complex Congenital Heart Disease ◽

Surgical Results ◽

Intraoperative Transesophageal Echocardiography ◽

Hemodynamic Function ◽

Subaortic Obstruction ◽

Double Orifice

SummaryWe describe an infant with complex congenital heart disease, including double orifice of the mitral valve associated with complex subaortic stenosis. Transthoracic and intraoperative transesophageal echocardiography were used to define three distinct anatomic abnormalities, all potentially contributing to the subaortic obstruction. Stepwise surgical repair with transesophageal echocardiographic monitoring of hemodynamic function ensured optimal initial surgical results. Overwhelming postoperative complications ensued, however, and the patient died. Postmortem findings are also presented.

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